Cardiology - Academic Notes

University:
Stanford University
Course:
PEDS 282 | Pregnancy, Birth, and Infancy
Academic year:

2023
Views:

263

Pages:

65
Author:

Pierre B

Cardiology Almost 1% of all live born infants (10% of spontaneous abortions / miscarriage) If isolated defect then sibling recurrence risk is 3% If parent affected then 5-10% risk to child 10-20% of children with heart defects have other abnormalities BACKGROUND Circulation before birth 2 x umbilical arteries take blood from distal aorta (via hypogastric arteries) to placenta 1 x umbilical vein returns oxygenated blood (pO2 3035mmHg) through ductus venosus into upper IVC and then into RA Blood entering right atria from SVC = pO2 of 2628mmHg (because has mixed with blood from legs) IVC return is preferentially routed via eustacian valve (groove in lower right atrium) to foramen ovale à left atrium à left ventricle à cardiac vessels, head and neck SVC return has pO2 of 12-14mmHg and is mainly directed to right ventricle then via ductus arteriosus to body & placenta Only 15% of RV output enters lungs (rest passes through DA to descending aorta) Oxygen in lung tissue is low so maintains the pulmonary HTN Changes in circulation at birth Cord clamped and cut Lungs become aerated and pressure in pulmonary circulation drops Causes extra blood flow to lungs & returns to heart via LA Changes the relative pressures in R&L heart Causes foramen ovale to close Normal lung function cause sats to rise Causes DA to close (functionally within 10-15 hours) & structurally closes within 5-7 days (becomes ligamentum arteriosum) Pulmonary pressures continue to drop over 1st few months Ductus venosus becomes ligamentus teres and ligamentum venosum of liver Cardiac Physiology Cardiac Output = HR x Stroke volume Stroke volume depends on preload, afterload and contractility Preload – passive stretch prior to ventricular filling. Mainly influenced by vascular volume Afterload – resistance to ventricular contraction distal to ventricles. Influenced by systemic vascular resistance and viscosity of blood Contractility – metabolic state of heart muscle Adrenergic receptors A1 stimulation à arteriolar constriction (raise BP) B1 stimulation à increases contractility and rate B2 stimulation à increases pulmonary and systemic vasodilatation Dopaminergic stimulation à vasodilatation in kidney, brain & gut Blood Pressure = blood flow x peripheral resistance Neonatal MAP should be gestational age (weeks) + postnatal age (days) until day 4 Changes with Age At birth = small stroke volume but highest cardiac output per weight due to high heart rate In Infants = stroke volume is relatively fixed so demands on increased output require increase in rate and fluid boluses have little effect on output As child grows - stroke volume increases AND heart rate decreases As child grows - systemic vascular resistance increases = rises in BP (50th Centile) Systolic BP = 85 + (Age in years x 2) (5th Centile) Systolic BP = 65 + (Age in years x 2) Resuscitation CPR (15:2) if: • No signs of life • No pulse • HR < 60 AND poor perfusion Non Shockable rhythms Asystole Commonest arrest rhythm in children Response to prolonged severe hypoxia and acidosis is progressive bradycardia leading to asystole) PEA Absence of signs of life / palpable pulse despite presence on ECG of recognisable complexes which would normally result in perfusion Most commonly in children due to trauma (hypovolaemia, tension pneumothorax or pericardial tamponade). Also seen in hypothermia, electrolyte abnormalities (inc hypocalcaemia after calcium channel blocked OD). Rarely due to massive thromboembolus Management Establish effective CPR at 15:2 10 mcg / kg adrenaline IV / IO (0.1mls/kg of 1:10,000) – will cause alpha-adrenergic mediated vaso-constriction à improves aortic diastolic pressures à improved coronary perfusion pressure & oxygenation. Also stimulates spontaneous contractions Repeat adrenaline every 4 minutes Consider reversible causes Shockable rhythms VF / Pulseless VT - Can be seen in sudden collapse, hypothermia, TCA OD and cardiac disease Management Precordial thump if witnessed monitored arrest Immediate shock 4J / kg on recognition and immediately resume CPR Use paediatric paddles if under 10kg 2 mins CPR Reshock (4J/kg) 2 mins CPR Reshock (4J/kg) Then Adrenaline 10mcg/kg AND amiodarone 5mg/kg 2 x Shock and CPR Repeat Adrenaline and amidoarone Then adrenaline every 2 shocks Consider magnesium if torsades du point / proven hypomagnesiamia Emergency Cardiac Medications Heart Failure - Frusemide (emergency dose = 1mg/kg IV (repeated after 2 hours if no diuresis) followed by maintenance of 12mg/kg/day in 1-3 divided doses) Duct dependent lesions – Prostin 5nanograms/kg/min (can increase in 5ng amounts to 20ng/kg/min. Monitor / pre-empt any apnoeas) Poor BP not responding to fluid – Dobutamine 5-20mcg/kg/min Arrhythmias Bradycardia without shock – seek cardiology opinion Bradycardia (< 60bpm) + Shock Usually pre-terminal sign à Start CPR + fluid bolus Can be precipitated by vagal stimulation due to suctioning or in postop cardiac patients Can be seen in raised ICP Can be side effect of digoxin / beta blockers Management If vagal overactivity (e.g. recent airway intervention) then: Adequate ventilation Atropine 20mcg/kg (max 600mcg) Repeat after 5 mins if no improvement (to max total 1mg in child / 2mg in teen) If no vagal stimulation High concentration O2 + 20mls / kg fluid bolus If ineffective then 10mcg/kg adrenaline IV If ineffective then infusion of adrenaline 0.052mcg/kg/min IV SVT without shock Management Diving reflex (ice water to face) for 5 secs (causes increase in vagal tone) One sided carotid sinus massage Valsalva manoeuvre If ineffective - 100mcg/kg IV adenosine If ineffective after 2 mins – 200mcg/kg IV adenosine If ineffective after 2 mins – 300mcg/kg IV adenosine (max single dose 500mcg/kg / 300mcg/kg if under 1 month, max total dose 12mg) If ineffective then cardiology may advise: Amiodarone – for refractory atrial tyacycardia 5mg/kg over 30 mins Flecanise – 2mg/kg over 10 mins Digoxin - dosage depends on age Verapamil – NOT to use under 1 year. 100-300mcg/kg (max 5mg). Stop drug once sinus re-established even if whole dose not given Propranolol – 25-50 micrograms / kg slow IV ONLY if pacing available as may cause asystole. Or synchronised shock NEVER use verapamil and propranolol together (both are negative ionotropes) SVT + Shock Generally rate > 220 If collapse pre-terminal IV / IO Adenosine 100mcg/kg upto max 500mcg/kg IF can be given faster than synchronised shock (as in non shock pathway) Otherwise DC cardioversion 1J/kg à 2J/kg à 2J/kg Pulsed VT + without shock If haemodynamically stable then consult cardiology ASAP They may suggest Amiodarone 5mg/kg over 20 mins (30 mins in neonates) IV procainamide (15mg/kg over 30-60 minutes with BP and ECG monitoring) If caused by drugs then DC shock is safest treatment If Torsades du point then magnesium sulphate rapid IV infucion 25mg/kg (max 2g) Pulsed VT with shock Sedate if required. Synchronised Shocks of 1J / kg and 2J / kg If not responding then Amiodarone and repeat shocks EXAMINATION Inspection Dysmorphism, growth, cyanosis Clubbing (not seen until > 1yr – indicative of any chronic disase) Spliter haemorrhages – infective endocarditis JVP (useful after 4-5 years) Chest / spine deformity, resp Sx / noise Skin lesions (Kawasaki, RF, endocarditis, neurocutaneous syndromes, collagen disorders) Scars Sternotomy = bypass / open heart Lateral thoracotomy = great vessels Left Thoracotomy = PDA / pulmonary artery banding Palpation Pulses – compare brachial to femoral for coarctation PDA = bounding/collapsing AS = small vol & slow rising Suprasternal notch – thrill (if murmur > 4/6) = left ventricular outflow tract obstruction (usually AS) Precordium – apex, left parasternal heave (RVH), thrills Trachea, chest expansion Liver (measure just lateral to rectus mm & ? pulsatile) 1cm normal in new-born, increased size if hyperexpansion, right atrial enlargement (tricuspid atresia), heart failure AND non-cardiac causes Spleen – can be felt in many new-borns Oedema – ascites is rarely cardiac but can occur in failure / hydrops, dependent oedema is late sign Percussion – respiratory examination, liver size, ascites Auscultation Cranial – quiet systolic bruit over AF is normal in infants, if very loud may be AV malformation à failure Goitre Abdo / loin (renal bruits = rare in children) Resp – rhonchi / creps if in failure Cardiac – 4 areas with bell and diaphragm Compare left lower sternal edge (tricuspid) to right hand sternum. If right louder then ? dextrocardia à listen and palpate for apex over right nipple Murmurs - 1/6 = soft, 4/6 = palpable, 6/6 audible off chest BP – manually! Innocent murmurs Satisfy the 5 S criteria: Systolic Soft blowing (pulmonary area) Short buzzing (aortic area) Symptom free – healthy child Signs free – normal pulses, no heaves/thrills, no radiation, no failure Turbulent flow in normal system, otherwise normal – no thrills etc Still’s Murmur Frequently heard between 4-6 yrs = school entry check Often disappears by puberty, occasional persists into adulthood Physiology Due to left ventricular flow through relatively narrow chamber Easily heard due to minimal obstruction between heart & chest wall Examination Best heard over left sternal edge & apex Limited radiation Low pitched, musical / vibratory quality Short crescendo-decreshendo Mid systolic Grade 1-2 Usually postural variation – softer when stood up Louder when cardiac output increased “Pulmonary flow murmur” Uncommon in young children, Common in teens & girls Flow through roughened outflow tract. Ejection systolic, short in duration, soft quality, blowing, no radiation, localised to left sternal edge (pulmonary area). Creshendodecreshendo pattern More prominent when flow increases (illness, anaemia, after exercise), disappears with valsalva manoeuvre, More common if straight back posture May only be heard if cardiac output is high (post exercice / with fever / during pregnancy) Can be hard to distinguish from ASD / mild PS “Vibratory murmur” Short, quiet (buzzing of a bee), mid systolic, heard at left sternal edge / apex Less obvious on sitting up Disappears by puberty “Venous Hum” Usually first found in preschool age Turbulence in venous return from head & neck. Blowing, continual murmur (including diastole) usually heard under clavicle Disappear on lying flat & on turning head (Abolished by compression of the neck vessels) Loudest when stool up with neck extended Neck Bruits Uncommon in young children More common in adolescence Hard to distinguish from AS – but not heard well / at all in aortic area Maximum sound above clavicle – no click / thrill Subclavian artery compression will abolish the murmur Pulmonary murmur of the new-born Due to changes in pulmonary flow around birth Disappears by 6 months Short and harsh Heard at sternal borders Can be heard over the back CARDIAC INVESTIGATIONS ECG – see later notes Blood pressure Cuff should cover 2/3 of length of upper arm AND bladder encircle at least 80% of arm ALWAYS check against centile charts for age Tilt Table testing Used to assess sino-atrial node function if syncope / near syncope thought to be due to abnormal autonomic activity / abnormal sinus node response CXR Heart position - left, centre, right Apex side – left or right Bronchial and Abdominal situs – usual or inverted Aortic arch – left or right sided, contour of descending aorta Thymus shadow – if absent in neonate then ? Di-George Heart size and contour – Ratio of up to 60% in infants (50% in children) is normal Pulmonary vascular markings – increased / decreased Diaphragm position Pulmonary pathology – collapse / consolidation Skeletal anomalies – ribs and vertebra ECHO with doppler Gives information on structure and flow rates Colour Doppler – red = towards probe, blue = away) Cardiac catheterisation Gold standard for saturations and pressures Vascular access via umbilicus in neonates, and via femorals in others Saturations Sats in L side normal = > 90% Sats in R side normal = < 80% (can be down to 60%) Step up on right side = LàR shunt Step down on left side = RàL shunt If abnormal difference between SVC & IVC then ? TAPVD/PAPVD Pressures R 5g/dl of deoxygenated Hb = may be absent if severe anaemia Concern if persists beyond nitrogen washout test. 90% are TGA or ToF If Pink fingers but blue toes = shunting via DA Cyanosed Neonate in room air CXR Increased pulmonary markings ECG with RVH ToF, PS, Ebstein’s anomaly ECG with LVH Tricuspid atresia Pulmonary atresia with intact ventricular septum Decreased pulmonary markings Pulmonary venous congestion TGA ECG normal TAPVD Others Stridor / Wheeze – due to vascular ring / double aortic arch Hoarseness – dilated pulmonary arteries Chest pain – rare Sharp, left sided can be seen in mitral valve prolapse The Pink Neonate Murmurs Found as part of the new-born check Innocent Murmurs Most likely pulmonary artery bifurcation Asymptomatic, Pink baby – confirm with pulse-ox Strong synchronous femoral pulses No Tachypnoea Normal (not excessive) postnatal weight loss Murmur NOT radiating to or only heart between scapulae (coarctation) No difference between arm and leg sats and BP Normal ECG and CXR (NOT pulmonary plethora / cardiomegaly) Obstructive lesions Right or Left ventricular outflow tract obstruction (valvular, sub or supravalvular) Coarctation (esp. when duct closes) Regurgitation MR TR - common & harmless Shunt Lesions ASD – RARELY causes murmur in neonates VSD / PDA – may occur later when pressure drops) AVSD – murmur usually due to AV valve regurg rather than shunting Heart Failure Poor feeding, breathless, grunting, clammy, sweaty Excessive or unexplained weight gain despite poor feeding On examination – resp distress, tachycardia and hepatomegally, Gallop rhythm may be heard Causes Structural heart disease Left heart obstruction – hypoplastic left heart, interrupted aortic arch, coarctation, and severe aortic stenosis Left to right shunt lesions – RARELY cause failure except PDA in neonate Myocardial disease Myocarditis Cardiomyopathy – hypertrophic or dilated Rhythm disturbance SVT – AV re-entry or atrial flutter Complete heart block – with or without structural disease AV fistula Cerebral / hepatic Non cardiac Anaemia, fluid overload Acute Management Adequate oxygenation Prostaglandin if may be duct dependent lesion Diuretics for symptomatic relief Maintain BM Treat anaemia, metabolic disturbance and sepsis Consider cause Consider ionotropes Chronic management Restrict fluids only if essential Optimise nutrition Frusemide (emergency dose = 1mg/kg IV (repeated after 2 hours if no diuresis) followed by maintenance of 12mg/kg/day in 1-3 divided doses) Maintain normal K+ (with spironolactone or supplements) ACEi (can help) Digoxin (sometimes) Collapse Could be overt shock, heart failure, or severe hypoxaemia causing acidosis Causes Cardiac disease Arrhythmia Structural disease Duct dependent systemic circulation (ACYANOTIC) (Usually few days later as duct closes) Coarctation Hypoplastic left heart Aortic valve atresia Interrupted aortic arch Duct dependent pulmonary circulation (CYANOTIC) Pulmonary atresia with intact ventricular septum / VSD but no communicating arteries Critical pulmonary stenosis Tricuspid atresia (unless large VSD) Transposition – without large VSD Heart muscle disease (cardiomyopathy) Infection – sepsis Metabolic – inborn errors of metabolism Neurological – birth asphyxia / trauma Reduced circulating volume – blood loss / dehydration Respiratory disease – pneumothorax Investigations CXR – heart shape, lung fields Bloods to exclude other causes Management General treatment of sepsis, hypoxia, acidosis If suspected duct dependent then start prostaglandin (if is correct will improve sats within 30-60 minutes If dysrhythmia – treatment for particular rhythm The Blue Neonate Most problems are airway / respiratory problems Causes Respiratory disease – more likely in preterm infants with respiratoru distress. Improves with oxygen Cardiac disease – mostly term infants, may be otherwise well, may have other cardiovascular signs. Unlikely to be improved by oxygen Persistent pulmonary hypertension – may have been asphyxiated. Associated with resp, and less commonly cardiac disease. Cyanosis variable Methaemoglobinaemia – very rare. May have family history or history of maternal exposure to oxidising agents. Baby is well Cerebral disease / hypoglycaemia / hypocalcaemia – act via respiratory or pulmonary vascular derangement Investigations Nitrogen washout test – place in at least 85% O2 for 10 minutes – expect to see sats rise and pO2 to 20kPa if not cardiac BUT can get failure if PPHTN (Will get some increase in cardiac babies) Cyanotic heart disease (not in failure) Right to left shunts Tricuspid atresia } cyanosis Pulmonary atresia with intact ventricular septum } worsens Critical pulmonary stenosis } as duct shuts Tetralogy of Fallot (minority blue in neonatal period) Common mixing TAPVD – often only mildly cyanosed. More if pulmonary veins obstructed Double inlet ventricle – degree of cyanosis depends on degree of pulmonary stenosis Truncus arteriosus Transposition – degree of cyanosis depends on number / size of shunt lesions and on if pulmonary stenosis Heart failure causing cyanotic lesions NB: only occurs if gross failure TGA – with large VSD & PDA or with coarctation Truncus arteriosus Double inlet ventricle Tricuspid atresia (with coarc and TGA OR with large VSD) Hypoplastic left heart TAPVD General Management Optimise infant (nutrition, glucose, electrolytes etc) Ensure adequate respiration Decide if prostaglandin is required (will improve oxygenation and prevent deterioration if duct dependent Side effects of Prostin: circulation) Apnoeas PaO2 < 3.6 (sats 70% or below) Jitteriness / convulsions Pyrexia, fever & flushing Diarrhoea Those becoming increasingly blue Those with metabolic acidosis Those who are shocked Consider in those with oligaemic lung fields on CXR NB can cause apnoeas in high dose. Assess infant for syndrome / other anomalies Blood culture and antibiotic to cover for infection Transfer to cardiac centre DON’T forget parents Persistent Pulmonary Hypertension of the Newborn a.k.a persistent fetal circulation Failure of pulmonary resistance to fall means fetal shunts stay in place causing cyanosis Presentation Similar to cyanotic structural lesions Will persist on nitrogen washout (due to shunting) Causes Primary (idiopathic) = abnormality of pulmonary arterioles with thick walls and narrow lumens Secondary to acute neonatal disease e.g. pneumonia, meconium aspiration, TTN, RDS Secondary to maladaptation at birth e.g. metabolic acidosis & hypoxia, hypothermia, hypoglycaemia, polycythaemia, fetal exposure to aspirin Investigations ECHO to exclude cardiac disease Then investigate for cause Sats in hand more than 4% greater than sats in foot = suggests right to left shunting (due to HTN) BUT can also occur in cardiac lesions such as interrupted aortic arch and severe coarctation Management Normalise blood sugar, calcium etc Correct polycythaemia Hyperventilate in high O2 to produce respiratory alkalosis (pH 7.5) Support BP if required with ionotropes and colloid Nitric Oxide will help reduce pulmonary vascular resistance . Oxygen and ventilation a. 100% O2 Always start with 100% oxygen and reduce the FiO2, rather than starting on 25% and increasing. In the short term there is no risk to a term baby using such measures. b. Normo-ventilation i.e. pO2 7-12 kpa is acceptable if baby stable c. pCO2 5-7 kpa if this can be achieved d. Use of HFOV, particularly in combination with inhaled Nitric Oxide, has been shown to reduce the need for ECMO. 2. Normotension a. Myocardial function is frequently poor, despite reasonable blood pressures. b. Aim to keep the mean arterial pressures above 50mm Hg in term infants c. Use volume (initially normal saline) and dopamine -starting with 5-10 mcg/kg/min and/or dobutamine 5-10 mcg/kg/min if systemic pressure raises and pulmonary pressure stays the same, R-L shunt will diminish . d. Adrenaline infusions may be indicated if there is severe myocardial dysfunction 3. Avoid polycythaemia a. Aim to keep the PCV between 0.40 and 0.45. 4. Alkalosis a. Establish the critical pH- preferably 7.45 but may be higher. If there is no dramatic improvement in PaO2 at a pH >7.6, the infant can be deemed to be "pH unresponsive". b. Use small boluses of bicarbonate (1-2 mmol/kg) or a continuous infusion (0.5mmol/kg/hour initially). Liberal bicarbonate use may result in hypernatraemia and hypokalaemia. 5. Sedation a. Many babies are very unstable. b. Consider early use of narcotic infusions. 6. Muscle Relaxation a. This may be necessary to gain initial control in very vigorous babies who are not adequately sedated with narcotics and are fighting the ventilator to their detriment. b. Use pancuronium 100micrograms/kg/dose PRN preferably for 24 hours or less. 7. Pulmonary vasodilators a. Inhaled nitric oxide (iNO) is the vasodilator of choice. iNO should be started at 20ppm and reduced to 5ppm as able, according to response and to stability. Methaemoglobin levels should be monitored (these are measured automatically on blood gases). Nitrogen dioxide (NO2) levels should be monitored and kept below 1ppm. b. Magnesium sulphate may be used in refractory cases. The use of MgSO4 is controversial but may be indicated in selected instances. c. Prostacyclin may also be used in severe and refractory cases, although it is difficult to obtain and its use is controversial. d. Tolazoline is no longer used at NWH. It is a non-registered medication. It has an unpredictable effect and frequently results in systemic hypotension and collapse. 8. Hyperventilation a. Inducing alkalosis by hyperventilation often creates as many problems as it solves and is best avoided. There can be an improvement in PO2. 9. ECMO a. This is essentially prolonged cardio-pulmonary bypass and is provided via PICU at Starship Hospital. b. Usual criteria are infants who have an Oxygenation Index (OI) >40 but it may be appropriate to discuss infants who may potentially require ECMO with the PICU specialist early rather than when ECMO or death are imminent. This will be done specialist-to-specialist. The neurological status of the infant may be an important factor in determining if ECMO is offered. OI = MAP x100 PaO2 (mmHg) x FiO2 Click here to open the OI calculator where MAP is Mean Airway Pressure, PaO2 is the arterial oxygen tension in mmHg (1kPa = 7.5mmHg), and FiO2 is the fraction of inspired oxygen (100% = 1.0, air = 0.21) The Older Infant Blue infant Respiratory disease is usually rapid onset and easily recognised with signs of respiratory distress. Sometimes can decompensate if episode of infection Causes Right to left shunt Tetralogy of Fallot Commonly sub-valvular right ventricular outflow obstruction is minimal at birth but progressive so present later with cyanotic spells Less common with pulmonary atresia and major aorto-pulmonary flow as mild cyanosis – these can continuous murmurs on both sides of chest Pulmonary AV malformations Very rare and usually found later in childhood Common Mixing Truncus Arteriosus – often mild and may not be obvious Double inlet left ventricle – degree of pulmonary stenosis determines level of cyanosis Unobstructed TAPVD Transposition With large VSD and without pulmonary obstruction means good mixing of blood Management Avoid iron deficiency – microcytic anaemia decreases deformability meaning increased blood viscosity Avoid dehydration – likely to be polycythaemic even when well hydrated (increased viscosity) Ensure good weight gain Endocarditis risk – inform family Influenza risk – immunise Other infection risk – Di-George syndrome, asplenism in right isomerism Recurrence risk – counsel parents Identify if at risk of hypercyanotic spells (conditions with muscular pulmonary outflow obstruction) – first aid advice Hypercyanotic spells Often occur on waking from sleep Rare in newborn period – but if going to develop are usually present by end of infancy Starts to cry and looks bluer than usual When crying stops colour does not return to normal and infant looks drowsy and even unresponsive with deep acidotic respiration Thought to be due to sudden increased in subvalvular right ventricular outflow obstruction (infundibular spasm) Management Intermittent knees to chest for blocks of 2 mins (increases systemic vascular resistance to help reduce left to right shunt) Propranolol – reduces infundibular spasm Phenylephrine – increases peripheral resistance & systemic BP à reduces shunting Morphine - for analgesia and sedation Heart Failure Typically shunt lesions do not cause failure until 2-3 months Secundum ASD rarely cause failure Primum ASDs (partial AVSD) may cause failure in infancy AVSD, VSD and PDA can all cause failure - If they don’t then it’s for 2 of 3 reasons: • Pulmonary vascular resistance falls insufficiently to allow great increase in lung blood flow = not recognised • Lesions are small (never assume this) • Pulmonary outflow obstruction is present Management Diuretic, Digoxin, ACEi Avoid sodium supplements by controlling sodium levels with diuretic dose adjustments Ensure adequate calorie intake (may need overnight feeds) The young adult with CHD Drugs and Alcohol Discourage smoking Avoid alcohol especially if anti-coagulated Higher risk of endocarditis from IV drug usage Water overload post ecstasy use can cause failure Amphetamine abuse can cause arrhythmias Pregnancy Absolute contraindication – Eisenmenger’s syndrome Strong contraindications – Fontan circulation, cyanotic disease, severe outflow obstruction and Marfan’s with dilated aortic root 50% risk of fetal death if maternal sats are < 85% Also counsel on recurrence risk in offspring & ECHO screening options Contraception Oestrogen containing contraceptive are contraindicated in cyanotic lesions, Eisenmenger’s syndrome & Fontan circulation due to increased risk of thrombosis POP is acceptable Intra-uterine devices are best avoided (endocarditis risk) Endocarditis risks High risks with body piercing and tattoos and IV drug use Travel Inform airlines in advance May need supplemental O2 on flights if cyanotic, failure or pulmonary hypertension OK to have driving licence unless syncopal episodes Polycythaemia Related to degree of cyanosis Monitor PCV and Hb May require venesection Arrhythmias Complication of surgery – esp. atrial surgery / conditions causing atrial dilatation Can occur post Fallot’s repair Some evidence for 24 hour tapes as part of FU in outpatients Eisenmenger’s syndrome Reversal of a left-to-right shunt due to increasing pulmonary varcular resistance causing a right-to-left shunt with cyanosis. High risk if large defect and esp. high in AVSD Often prevented now due to earlier surgery Surgery Mainly re-operations or due to a progressive condition which did not previously require intervention (e.g. valve stenosis) Can be technically difficult due to scaring and altered anatomy Regular investigations ECG – to exclude heart block and ventricular strain Ambulatory ECG – if concerns about paroxysmal arrhythmias ECHO – transthoracic echo becomes less useful and may require TOE (but that may need sedation) Lab investigations – HB, PCV, electrolytes if on diuretics, plasma protein levels if high venous pressure, anti-coagulation monitoring Exercise testing – may be required CARDIOLOGY INTERVENTIONS Interventions can be divided: o Palliative o Corrective o Anatomically corrective (e.g. obliterating a shunt lesion) o Physiologically corrective (e.g. correcting flow without correcting anatomy e.g. Fontan procedure) Endoscopic Balloon Septostomy (aka Rashkind procedure) Performed as emergency procedure Can be carried out under ultrasound (so doesn’t need transfer to cath lab) Is usually sufficient to allow mixing of blood to prevent / reverse metabolic acidosis Uses Used for mainly for transposition Can also be used if outlet from either atria is severely impaired e.g. mitral atresia with double outlet RV, or pulmonary atresia with small tricuspid valve Procedure Pass balloon catheter through foramen ovale into LA Then inflate balloon and pull back with short sharp jerk into RA = tear & enlarge foramen ovale Balloon dilatation Used for stenosis e.g. pulmonary valve stenosis, re-coarctation Occlusion of shunts Uses – for closing PDA, now also for closing ASD Options Umbrella device inserted into shunt & deployed Endovascular coiling Surgical clipping / ligation Pros and Cons Endovascular = shorter stay but radiation Stenting Used wither as primary procedure or in conjunction with balloon dilatation in pulmonary artery stenosis (usually post fallots repair) Ablation To remove foci of arrhythmia and interruption of accessory pathways Done using catheter technique & fadiofrequency ablation Conventional Surgery Lateral thoracotomy (closed) PDA ligation / clip Coarctation repair Blalock shunt (systemic to pulmonary anastomosis) Disconnection of Subclavian artery and reconnect to pulmonary trunk Relies on collateral circulation to supply blood to arm: contralateral vertebral artery / carotid artery à basilar artery à circle of willis à retrograde down other vertebral artery to subclavian distal to occulusion Can result in Subclavian Steal Syndrome = on exercising arm (or in some cases moving neck) à vertigo / visual loss / neuro sx such as ataxia, diplopia, paraesthesia, arm cladication, syncope Pulmonary artery banding Median sternotomy (sternum repaired with radio-opaque wires) Closed - Central systemic to pulmonary (e.g. asc aorta to pulmonary artery) anastomosis Open - Intracardiac procedures CXR clues to surgery Median sternotomy is closed with radio-opaque wires Temporary pacing wires are usually removed a few days post op, but may be cut at skin leaving visible on CXR Blood vessels occluded with metal clips Wires / Clips are NOT contraindication to MRI (but may affect image quality) Open heart surgery Requires heart to be stopped (using cold electrolyte solution – “cardioplegia solution”) Circulation maintained using bypass machine Longer time on bypass means longer hypothermic arrest = more cerebral, pulmonary and renal dysfunction likely to occur post op In some cases post op care involves ventilation and dialysis Complications of cardiac surgery Recurrent laryngeal nerve damage causing hoarse cry (usually recovers, occasionally permanent) Phrenic nerve damage causing problems with diaphragm & ventilator dependence in infants, less of a problem in older children (can take 3-6 months to recover). Can treat with plication (surgical tightening) Chylothorax – usually responds spontaneously. Low fat diet can help by reducing volume of chyle produced. TPN and pleurodesis may be required. Excessive chyle loss can cause hypoalbuminaemia with compromised immune function due to loss of lymphocytes Pleural effusions – if high systemic venous pressure, esp in fontan type circulation. Some may develop protein losing entetopathy and malabsorption due to pressure effect on GI tract Horners syndrome – common, usually transient, can occur post coarctation repair and Blalock type systemic to pulmonary anastomoses Pericardial effusions – can be post op or weeks / months later (post pericardotomy syndrome) Cardiac Tamponade – can occur early post op or as post pericardotomy syndrome, onset may be rapid and may require urgent aspiration or drainage Transplantation Most commonly due to dilated cardiomyopathy Acute failure of transplanted organ due to: o Poor preservation of myocardium o Hyperacute rejection – high dose immunosupression given, can cause severe infections o Underestimation of pulmonary vascular resistance (new ventricle unable to cope with pressure) Medium failure due to o Infection o High grade rejection o Chronic low grade rejection causing problems with coronary arteries Long term problems o Increased risk of lymphoma & other malignancies due to immunosupression schedule o Growth failure due to steroid therapy o Chronic hypertension due to cyclosporine (also causes hirsuitism) FETAL DIAGNOSIS Indications for scanning o 1st degree relative with CHD o Family history of single gene disorder with known cardiac involvement o Exposure to teratogens in pregnancy o Maternal diabetes / SLE o Other fetal anomaly seen on US o Known fetal chromosome disorder o Fetal arrhythmias By echocardiography from 18-20 weeks by detailed scan Standard 4 chamber view Will detect hypoplastic left heart, hypoplastic right heart (pulmonary atresia without VSD, tricuspid atresia and severe Ebstein’s anomly) and double inlet (single) ventricle But will miss transposition, fallots, double outlet RV & truncus arteriosus As foramen ovale is part of the normal fetal circulation ASDs and PDAs will not be detected on antenatal scan. Coarctation is difficult to detect Fetal heart failure Results in pericardial and pleural effusions, ascites and generalised oedema (hydrops) Non immume hydrops can be due to complete heart block, tachyarrhythmias and structural disease e.g. severe AS & hypoplastic right heart Management of pre-natally diagnosed heart disease Parents offered counselling and termination if poor outcome expected Fetal Arrhythmias Complete heart block Demonstrate by different rates of atrial and ventricular contraction by echo. Usually due to passage of anti-Ro antibodies across placenta. Can also be due to congenitally corrected transposition Usually tolerated well by fetus, may develop hydrops if rate < 60 If severe concerns aim to deliver baby at centre where pacing is available Irregular beats Atrial ectopics are usually benign and usually settle early in pregnancy. Can lead to atrial tachycardia Ventricular ectopics are also benign SVT Either due to atrial flutter or re-entry tachycardia If atrail flutter > 400/min with 2:1 block - treat with maternal digoxin (blocks AV node & slows ventricular rate to prevent failure BUT doesn’t guarantee return to sinus – usually revert spontaneously) If re-entrant tachycardia then usually 220-300/min with atrial rate same as ventricles - Treat with digoxin to break reentrant loop and restore sinus VT Fetal VT is rare and only usually occurs if cardiac rhabdomyomas due to TS CARDIOLOGY GENETICS Some conditions although of minimal significance are surprisingly common. E.g bicuspid aortic valve = 1/80 Although there are some single gene defects many cases appear to be multifactorial Chromosomal Downs Syndrome 5% of all congenital heart disease 1/700 births 40% of these children will have heart disease 40% AVSD (including ASD Primum) 30% VSD 10% ASD (secundum) 5% Fallots 5% PDA Recurrence If caused by non dysjunction then subsequent risk of affected pregnancy is 1-2% If mosaicism or translocation then recurrence risk is variable Most boys with Downs are infertile. From the few cases of female downs pregnancies recurrence is approx 50% Edwards (T18) and Patau (T13) Syndrome Mainly VSD Also ASD and PDA are common Edwards – clenched fists, rocker bottom feet, micrognathia Patau – cleft lip, polydactyl, holoprosencephally As outcome is limited then cardiac surgery is rarely of benefit (survival limited by neurological and respiratory problems) Turners Syndrome Only just over half are pure XO, others being mosaic or other large X deletions High spontaneous abortion risk Lymphoedema, Short stature and gonadal dysgenesis Broad chest (shield) with wide spaced nipples, neck webbing (50%), cubitus valgus, renal anomalies in >60%, normal intelligence 10-20% will have cardiac problems (mainly coarctation, others AS, or aortic root dilatation and dissection) Contiguous gene defects Beckwith-Wiedemann Syndrome Duplication of 11p15 Hyperplasia and dysplastic viscera, abdo wall defects, embryonal cell tumours, cardiac hypertrophy and congenital heart disease Di-George Syndrome (aka velocardiofacial syndrome) 22q11 deletion – AD inheritance. 90% are spontaneous mutations CATCH 22 Cardiac – conotruncal anomalies – (conus = outflow tract). Most frequently truncus arteriosus, interrupted aortic arch or fallots with pulmonary atresia. Others include VSD, absent pulmonary valve syndrome, anomalous origin of pulmonary artery from aorta (hemitruncus), right sided aortic arch, vascular ring and coarctation As 20-30% of truncus arteriosus / interrupted aortic arch are 22q11 then at surgery all should be assumed to be if tests not complete (use irradiated blood) Abnormal facies – prominent nose, small chin, hypertelorism, micrognathia, short philtrum with fish-mouth appearance, antimongoloid slant, and telecanthus with short palpebral fissures Thymic hypoplasia / aplasia – blood products should be irradiated to prevent GvHD & avoid live vaccines until immune evaluation completed Cleft palate – overt or submucous Hypocalcaemia – most severe as neonate. Improved through childhood. Due to hypoparathyroidism Common – facial features & developmental delay (usually mild with IQ between 50-100) Common but not universal – conotruncal cardiac lesions, thymic aplasia Rare – upper limb anomaly, myelomeningocele, cerebellar atrophy, renal anomalies Williams Syndrome Elastin gene on Chr 7 Facial features – “elfin features”, broad lips & nose with anteverted nostrils and long philtrum, prominent periorbital fullness & depressed nasal bridge, short palpebral fissures with stelate pattern to iris. Often not evident until midlate childhood Cardiac lesions – progressive supravalvular aortic stenosis with flask shaped aortic root, enlarged aortic sinuses & narrow ascending aorta. Can be severe peripheral pulmonary artery stenosis which improves with time. Can also get AS/PS, septal defectsm coarctation, hypoplastic aorta, RAS (causing HTN) Short stature Hypercalcaemia in infancy, improves with time. Can be intermittent Feeding difficulties in babies Mental retardation but good language skills, IQ around 50 Cocktail party personality, Cheerful, ease with strangers Single Gene defects Noonans Syndrome Chr 12. AD – most cases sporadic. M=F. Approx 1/1000 Triad of short stature, cardiac lesions and typical facial features Cardiac – hypertrophic cardiomyopathy / pulmonary stenosis in 50% (difficult to treat with balloon valvuloplasty as valve is thickened and immobile, surgery often needed). 10% have VSD Facial Features – hypertelorism, low set posteriorly rotated ears, ptosis & squint. Low posterior hairline with neck webbing, Rotated ears with thick helix (90%), deep philtrum (90%) Cryptorchidism is common in boys Skeletal – short stature, shield chest with pectus excavatum / carinatum, Renal and clotting anomalies can be seen Hair often curly with multiple pigmented lesions Developmental delay is MILD – present in 1/3 of cases. if severe look for other diagnosis Antenatally – cardiac lesion, polyhydramnios, cystic hygroma Postnatal – feeding difficulties & severe GORD Marfans Syndrome Deficiency of fibrillin (15q) – AD inheritance Tall stature (above 97th centile) Cardiac Aortic root dilatation which progressively enlarges & increasing tendency to aortic dissection once over 5cm (although uncommon in childhood) which can lead to sudden death. Can be prevents with elective root replacement Mitral valve prolapse à MR is common, and AR occurs with enlarged aortic root (stretched valve) B-blocker thought to reduce risk of dissection Should avoid contact sports and stenous exercise as can ppt disection Long fingers (Steinberg sign), increased arm span and reduced upper:lower body ratio Lax joints with scoliosis / kyphoscoliosis High arched palate with retrognathia Myopia (severe) in over 50%, also lens dislocation (up and out) & retinal detachments Inguinal hernias, pneumothoraces Holt-Oram Syndrome AD – 12q2 Secundum ASD (Occasionally VSD / other cardiac lesions) Associated with upper limb abnormalities Never lower limb Can be asymmetrical and more commonly affects radial side Can be mild cclinodacyly or severe deformity Increasing severity with progressive generations Other AD lesions Familial ASD – can occur but most ASD’s are not familial Familial TAPVD – low penetrance, linked to CHr 4 Familial PDA – can be AD, AR or multifactorial HOCM Aperts syndrome – PS / VSD with craniosynostosis with syndactly and deafness Myotonic dystrophy – conduction defect on ECG, myotonia, facial features, cataracts, ptosis, frontal balding Cri-du-chat - VSD, ASD, PDA Freidreich’s ataxia – hypertrophic cardiomyopathy AR lesions Carpenters Syndrome – craniosynostosis, polydactyl, various cardiac lesions (septal defects, pulmonary stenosis and PDA) Ellis-van Creveld Syndrome – polydactyl, short limbs, sparse hair, abnormal teeth and nails, cardiac disease (septal defects in 50%) Homocysteinuria – due to cystathionine synthetase deficiency. Marfenoid appearance, lens dislocation (down and in), increased tendency to vascular thrombosis Kartageners syndrome – dextrocardia (although usually structurally normal, situs invertus & ciliary dyskinesia with tendency to recurrent chest infections & bronchiectasis Pompes disease Isomerism – duplication of right or left sided structures. Left isomerism - both atria have morphology of LA as do both lungs, polyspenisa & azygous vein connects to SVC (IVC does not drain to the heart). Can also be dextrocardia. Usually normal but increased risk of CHD Right isomerism – both atria and both lungs are right sided appearance, TAVPD, AVSD, double outlet right ventricle, pulmonary atresia. Also asplenic. Will require complex surgery to reconnect Ehlers Danlos – can be AR / AD. Hyperextensible skin which bruises easily. Aortic dissection & aneurysm, ASD, mitral valve prolapse Jervell and Lange Nielson – long QT and congenital hearing loss. AR inheritance Others – some cases of hypoplasic left heart, pulmonary atresia and Ebsteins anomaly X-Linked Duchenne MD – cardiomyopathy Dextrocardia with structural heart disease Left sided valve disease Sporadic Syndromes Alagille’s Syndrome Cholestatsis – syndromic bile duct paucity Cardiac disease – typically peripheral pulmonary stenosis, can also be tetralogy Skeletal anomalies – in 1/3 cases Abnormal facies – and posterior embryotoxin on eyes AV malformations can develop in lungs Pentalogy of Cantrell Cardiac – tetralogy of fallot Defect of chest and abdominal wall - bifid / short sternum, gastroschisis and absent diaphragm CHARGE syndrome Coloboma of irus / retina Heart defect – wide varienty inc VSD, AVSD, ToF, double outlet right vetricle Atresia of choanae Retardation – of growth +/- developmental delay Genitalia – small in boys Ear deformities – can be large / floppy / cup shaped with associated deafness Cornelia De Lange Syndrome Usually septal defects Also severe mental retardation, abnormal bushy eyebrows, hirsuitism, microcephaly and short stature Goldenhar Syndrome Cardiac – VSD, Fallots Others – epibulbar dermoid, pre-auricular skin tags, colobomata, cleft palate, vertebral anomalies amd hemifacial microsomia Kabuki Syndrome Cardiac – VSD, double outlet right ventricle Facies – tentd eyebrows, abnormal lips, eyes and ears Klippel-Feil Syndrome Short neck Septal defects VACTERL Vertebral anomalies Anal Atresia Cardiac Defects – usually VSD / ToF Tracheo-oEsophageal Fistula Renal Anomalies Limb Defects Rubenstein Taybi Syndrome VSD / PDA in 1/3 of patients Broad thumbs and toes, short stature, facial dysmorphism, IQ < 100 Teratogens Alcohol (high doses), amphetamines and cocaine à septal defects TGA Phenytoin à AS / PS, coarctation, PDA Warfarin à various defects Lithium à Ebsteins anomaly Carbemazepine à ASD / PDA Trimethodione (anticonvulsant) à Transposition / tetralogy Valproate à tetralogy, VSD, coarctation, Left herat hypoplasia Thalidomide à tetralogy, septal defects Methotrexate, cyclophosphamide, daunorubicin à tetralogy, dextrocardia Isoretinoin – conotruncal abnormalities Viruses (rubella mainly) à PDA, peripheral PS, septal defects Maternal Diseases Rubella – peripheral pulmonary stenosis & PDA Diabetes à transposition, septal defects, coarctation, ventricular hypertrophy PKU à tetralogy SLE à congenital heart block LEFT TO RIGHT SHUNTS Atrial Septal Defects Usually asymptomatic in children (as shunting is small) Usually found incidentally Patent Foramen Ovale (PFO) Is not considered abnormal even if it persists throughout life Usually closes spontaneously Gives increased risk of paradoxical emboli and the ‘bends’ Ostium Secundum ASD 5-10% if congenital heart disease Lesion in region of foramen ovale Commonly associates with more complex lesions. Can have PAPVD Progression Spontaneous closure can occur up to 2-3 years. Childhood symptoms are rare In adults can cause atrial arrhythmias (due to dilataion), paradoxical emboli, right heart failuire and pulmonary vascular disease Life expectancy is normal if closure during childhood Physiology Left to right shunt but low volumes due to low pressures FIXED SPLIT - because 2 atria = 1 chamber (once hole) therefore respiration affects both equally …of 2nd SOUND - Aortic then Pulmonary - takes longer for RV to empty as more volume = delays pulmonary valve closure …over PULMONARY area Can get ej systolic murmur (pulmonary area) due to extra flow through normal valve but often missed RV heave due to increased blood vol Investigation ECG – RAD, RVH & RBBB (all due to excess strain on RHS) CXR = pulmonary plethora with enlarged heart Confirm by ECHO Sinus Venosus ASD 10% of ASDs. Occurs more commonly in upper part of AV septum adjacent to SVC but can be close to IVC. Strong association with PAPVD Spontaneous closure does not occur. Can cause similar problems to secundum ASD Ostium primum ASD = part of the spectrum of AVSD Clinical features S2 wide and fixed (does not vary with respiration) Pulmonary outflow mid systolic murmur and often mid-diastolic murmur at left lower sternal edge (due to increased tricuspid flow) Investigations ECG – rSR in V1, can have Right axis deviation in QRS Secundum = RAD CXR – mild cardiomegaly, prominent pulmonary artery, Primum = LAD pulmonary plethora ECHO – diagnostic Treatment If detected early then aim to close by 3-4 years If found later then close ASAP once found Atrio-Ventricular Septal Defects (AVSD) Partial AVSD (also known as ostium primum ASD) 1-2% of all congenital heart disease Physiology Hole low in atrial septum Failure of septum primum in fetal life = mild end of spectrum which includes AVSD Defect just above AV valves & usually extends into insertion of anterior leaflet of mitral valve à cleft and incompetent Heart failure earlier in infancy & high mortality without surgery Severe pulmonary HTN is common Can be Pansystolic murmur = Mitral regurg Can have left to right ventricular shunting Progression May develop heart failure & FTT in infancy (esp. if AV regurgitation is marked) Pulmonary vascular disease develops in adult life Small defects may cause minimal symptoms Signs are similar to ASD or get a pansystolic murmur of AV regurgitation Investigations ECG – Right atrial enlargement, may be prolonged PR, QRS is -30 to -60 (LAD), rSR in V1 (RBBB) with RVH CXR – cardiomegaly with prominent PA and pulmonary plethora ECHO – diagnostic Treatment Aggressive management of heart failure Surgical closure (by 2-4 years if well, sooner if symptomatic) Complete AVSD 2% of congenital heart disease Strong association with T21 (80% of of AVSD = downs, 40% of downs have AVSD) Occasionally assoc with Fallots / Coarctation Often found if dextroisomerism Physiology ASD + VSD + Single AV valve Atrial and ventricular shunting occur AND AV valve regurgitation Progression Very likely to develop failure in infancy. Pulmonary vascular disease is universal and may be irreversible by 1-2 years Signs. Fixed S2, loud P2, loud pansystolic murmer at left lower sternal edge (from VSD) or apex (from AV regurgitation). May have mid systolic murmur in pulmonary area and mid diastolic murmur at lower left sternal edge. May have NO murmurs Investigations ECG – right atrial enlargement, long PR, QRS +180 to +270 (north west), RVH CXR – cardiomegaly with prominent PA and pulmonary plethora ECHO - diagnostic Treatment Aggressive management of heart failure Surgical closure in infancy, otherwise pulmonary vascular disease Ventricular Septal Defect 32% of structural heart disease Natural History 65% close spontaneously Others reduce in size but do not completely close If large with left to right shunt can progress to pulmonary vascular disease Progression Small defects are usually asymptomatic Large defects typically develop into heart failure at 24 months old If untreated and pulmonary resistance rises then complete failure by 2-3 years followed by Eisenmenger’s Physiology Defects can be in various locations. Any adjacent to central fibrous body = perimembranous Usually single defect in membranous portion adjacent to tricuspid valve or below aortic valve Early in life (before pul pressures drop = no shunt = not detected). As pul artery pressures drop à shunting à increased pulmonary flow with pul HTN & oedema. Turbulence across the defect causes pansystolic murmur Small VSD Usually found incidentally Impressive murmur in well child, = “maladie de Roger” with “Bruit de Roger” = harsh high pitched Pansystolic murmur 75% will close by 10 years (majority by 2 years) Risk of bacterial endocarditis Rarely develop failure Medium VSD Symptoms in infancy (poor feeding, slow weight gain), often ppt by check infection As child grows defect becomes less significant Closure often occurs Large VSD Symptoms in 1st week of life Heart failure difficult to control, NG feeds required Most will need surgery Persistent high flow to lungs à pulmonary HTN à shunt reversal = eisenmengers syndrome NB: will symptomatically improve before shunt reversal as pressure become equal and shunting reduces Clinical Features Loud P2 if pulmonary pressure is high Usually 3/6 or more murmur at left lower sternal edge (3rd-4th left IC Spaces) Often not heard in immediate newborn period (or later when pressures equalise before shunt reversal) Small defects can cause thrill and louder murmurs due to higher turbulence If pulmonary blood flow is over 2x systolic then mid diastolic murmur at apex due to increased mitral flow Investigations ECG small defect = normal moderate = LVH large = R & LVH CXR small = normal moderate / large = cardiomegaly and pulmonary plethora pulmonary vascular disease = large central pulmonary arteries with peripheral vascular pruning ECHO – diagnostic Cardiac catheter – if concerns over pressures Treatment Treat failure if present Tend to self-resolve, few require surgery Surgical closure: In infancy if FTT or rising pulmonary pressures In older children if rising pressures, defect not getting smaller, aortic regurgitation or developing subvalvular pulmonary stenosis If endocarditis – BUT only once infection fully treated Consider pulmonary artery banding if complex anatomy Patent Ductus Arteriosus 12% of structural congenital heart disease More common in girls, prems and congenital rubella Physiology In fetus Only 7% of ventricular output passes through lungs Patency of duct is maintained by locally produced prostaglandins in utero As pregnancy progresses becomes less sensitive to prostaglandin and more to oxygen concentrations At Birth Increased pulmonary oxygen concentration results in duct closure Left atrial pressure rises causing closure of PFO Preterm infants Have a duct less sensitive to oxygen and are often subject to hypoxia and acidosis due to respiratory disease Also have higher levels of natural prostaglandin Natural history In preterm infants (as previously mentioned) Heart failure may develop in infancy Spontaneous closure after new-born period in term infants is rare Eisenmenger’s develops in 2nd decade if large lesion Endocarditis common in small lesions Clinical features In neonate Not improving respiratory state / ventilator dependent Apnoeas NEC Poor peripheral perfusion with grumbling metabolic acidosis Wide pulse pressure (systolic > 2x diastolic) Active precordium, bounding pulses, hypercapnia, murmur (may be continuous or systolic, can be intermittent) In Child Full pulses Active precordium Continuous murmur under left clavicle May have signs of heart failure In some cases murmur may only be systolic If evolving pulmonary vascular disease then will develop signs of RVH (heave) and can then become cyanotic due to shunt reversal Physiology Continuous machinery murmur (like venous hum but louder and NO change with position). AND diastolic murmur at apex (high flow through mitral valve) Left to right shunt – Pressures are always higher therefore always shunting. causes increase flow through lungs Can cause heart failure And grumbling metabolic acidosis due to Steal Syndrome Can also contribute to endocarditis Investigations ECG Small = normal Moderate = LVH Large = R & LVH Pulmonary vascular disease = RVH & strain CXR Small = normal Mod / large = cardiomegally, pulmonary plethora, large pulmonary artery Pulmonary vascular disease = normal / large heart, peripheral pulmonary vessel pruning, large central pulmonary vessels ECHO = diagnostic Treatment Antenatal steroids before delivery reduce incidence Cautious initial fluids also help with reducing incidence NO benefit to prophylactic indomethacin (due to cost implications) Many asymptomatic ducts will close spontaneously up to 3 months after birth In Neonate Optimise oxygenation Fluid restrict and diuretic If no contra-indication give indomethacin / ibuprofen (up to 4/52) Contraindications – renal failure, bleeding, thrombocytopenia (<70), NEC / GI bleed, on hydrocortisone for BP (can cause perf) Side effects – transient oliguria & hyponatraemia, GI bleed / perforation, transient hypertension if given too fast If drug treatment fails / contraindicated then surgery In Children Treat failure if present Closure if clear risk of developing pulmonary vascular disease Surgical ligation / catheterisation and using umbrella device In older children if untreated will eventually cause pul HTN & lead to shunt reversal IF already irreversible pulmonary vascular disease then closure is contraindicated Aorto-pulmonary window Rare abnormality Ascending aorta has opening into main pulmonary artery Allows shunting AND high aortic pressure to be transmitted to pulmonary circulation Can exist with PDA / VSD or coarctation / interrupted aortic arch History – heart failure in infancy, pulmonary vascular disease if survives Clinical signs – bounding pulses, loud P2, continuous / pansystolic murmur and mid / lower left sternal edge. Large defects may not have murmur Investigations ECH – R & LVH CXR – cardiomegally and pulmonary plethora ECHO – diagnostic Treatment – surgical correction on diagnosis Systemic Arterio-Venous Fistula Can be single or multiple within a patient Can occur in cerebral, coronary or hepatic circulation History – large defects cause failure in infancy, small defects may cause local effects such as ischaemia, fits, hydrocephalu. Small coronary AV shunts are high risk for endocarditis and MI Clinical Features – heart failure with bounding pulses. Can have continuous bruit over affected area Investigations ECG – Right atrial enlargement, R & LVH CXR – cardiomegally +/- pulmonary plethora ECHO – volume loaded right heart Treatment – treat failure if present, catheter occlusion of shunt OBSTRUCTIVE LESIONS Aortic stenosis 5% of congenital heart disease Can be Valvular (most common) Sub-valvular – can be discrete or diffuse Supra-valvular (least common) – assoc. with Williams syndrome Bicuspid aortic valve often occurs with / without stenosis Natural history At any site can be progressive & assoc. with regurgitation Infants with severe AS develop failure If critical AS / aortic atresia (with hypoplastic left heart) then is duct dependent circulation In older children may have syncope or chest pain on exertion Will become more severe in adults as valve calcifies & stenosis worsens Physiology Obstruction to LV outflow à increased pressure + hypertrophy Ejection systolic murmur in aortic area and radiates to neck Can also produce click (additional sound after S1 & before murmur) Can transmit to neck. Often overlying thrill (suprasternal notch & over right carotid artery) Can be early diastolic murmur also due to regurg (left sternal edge, child sat forwards and in expiration) If severe then can get delayed aortic valve closure = paradoxical splitting with respiration ECG shows LVH hypertrophy Same pattern seen in supra-valvular aortic stenosis (William’s syndrome) and in sub-valvular aortic stenosis (HOCM) Clinical Features Heart failure if critical / severe Weak pulses OR stronger in right arm then others (due to directional flow) Suprasternal thrill is common and can have forceful apex Valvular AS is associated with ejection click, harsh mid systolic murmur at left sternal edge, aortic area and radiating into neck. Paradoxical (reverse) splitting = S2 louder in expiration than inspiration = delay in aortic valve closure May also be aortic regurgitation audible If critical Presents in 1st week of life with heart failure If not recognised then 50% will die If severe Then can have syncope and dizziness + risk of sudden death in 1%. Stressful exercise can cause angina & should be avoided Investigations ECG Mild – moderate = normal Severe = LVH with strain CXR – often normal. Can have pulmonary venous engorgement, cardiomegaly, and prominent ascending aorta ECHO – diagnostic. Severity assessed by pressure gradient across valve (using Doppler) Treatment Endocarditis prophylaxis important Intervention is indicated at any age if symptoms are present Timing of treatment influenced by age and symptoms Childhood surgery is balloon dilatation aiming to delay replacement until teen/ adult Valvular lesions often treated with balloon dilatation Can re-stenose require repeat procedure Coarctation 10% of congenital heart disease More common in males (and in XO females). If occurs in female then should karyotype even if no other features present 2/3 will also have bicuspid aortic valve 40% assoc. with VSD, but can also occur with other lesions e.g. TGA, double inlet left ventricle and AVSD Natural History Can be critical reduction in flow with DA closes = present with collapse In less severe cases then gradual onset failure Many cases are undiagnosed until hypertensive in 2nd / 3rd decade Can lead to LV failure if left untreated If severe Until duct closure blood flows from PDA to lower half of body by passing coarc When duct closes present with failure of R&LV Grey collapsed baby on duct closure with hepatomegally. Poor leg pulses and lower BPs in legs No murmur if severe defect Treat with Prostaglandin E2 to reopen duct Then repair coarc and ligate duct ECG = LVH CXR – normal or rib notching if chronic If minor Gradually develop collateral circulation Hypertension in neck and arms Without surgery would die in 30-40s Delayed slightly weak femoral pulses with BP difference and systolic murmur best heard between shoulder blades Aim to treat surgically as soon as diagnosis made Clinical features If severe then collapse as duct closes Weak femoral pulses, radio-femoral delay Systolic bruit between scapulae In older children can have bruits from collaterals Subclavian flap repair Can have different BPs – but not always reliable Investigations ECG – collapsed neonate = normal or RVH, older child = normal / LVH. LV strain (T wave inversion in V6) CXR – cardiomegaly is symptomatic. Rib notching after 810 years ECHO – diagnostic Treatment Resuscitation – with prostaglandin then surgery if severe Surgery in older children Left subclavian flap is younger children. ** leaves Left arm with no palpable pulse - uses proximal part of left subclavian to widen aorta (subclavian flap aortoplasty) End to end anastomosis in older children (high risk of recurrence) Complications include ischaemia of spinal cord (due to prolonged clamping during op), renarrowing (or incomplete resection) and systemic hypertension (resolves over longer term) May develop post op stenosis (soon or years later). Balloon dilatation is preferred treatment Interrupted aortic arch Multiple possible locations but ALL collapse when DA closes Almost always co-exist with intra-cardiac lesions e.g. VSD, subvalvular left ventricle outflow obstruction, mitral stenosis and truncus arteriosus Strong assoc. with Di-George syndrome Natural History Survival beyond early infancy is rare If DA remains widely open then heart failure and FTT with rapidly progressive pulmonary vascular disease Clinical Features Collapse with gross heart failure IF examined before collapse then have pulse difference around arch (right arm, right neck, left neck, left arm, femorals. May be signs due to co-existing lesions Investigations ECG – RVH CXR – cardiomegaly, pulmonary plethora, absent thymus if Di-George ECHO – diagnostic Immune function – must be tested Treatment Maintain open duct Corrective surgery Ensure use of irradiated blood products until immune status known Hypoplastic left heart syndrome 3% of all congenital heart disease Anatomy Most commonly small LA, atretic mitral valve, small left ventricle with thick walls and small cavity and atretic aortic valve Pulmonary venous return passed through foramen ovale to RA. Supply to systemic circulation is via patent ductus arteriosus Frequently have either coarctation or TAPVD Mitral atresia can occur without aortic atresia (if double outlet right ventricle) and can occur vice versa. Both usually have large VSD and 2 normal sized ventricles LV has to generate pressure to pump systemic as well as pulmonary Natural history Usually diagnosed prenatally – therefore prophylactic PGE to keep duct open prior to surgery HLHS and Aortic atresia with mitral atresia are fatal on duct closure Mitral atresia without aortic atresia can have longer survival Clinical features Babies with HLHS are rarely entirely well with feeding difficulties from birth BUT well enough for discharge, then collapse on duct closure Before duct closure femoral pulses may feel stronger than upper limb As duct closes develop tachypnoea with massive hepatomegaly and impalpable peripheral pulses and gallop rhythm Investigations ECG – RA enlargement, RAD, RVH CXR – cardiomegaly, pulmonary venous engorgement, massive hepatomegaly ECHO – diagnostic Treatment Resuscitate with prostaglandin and ventilator support Options then are: Heart transplant – problems from long term immunosuppression and difficulty finding organ Palliative procedures – via Norwood and Fontan. Mainly buys time for transplant Either transplant or series of 3 palliative procedures to buy time for transplant Norwood procedure at diagnosis – right ventricle to pump to systemic circulation, with shunt to pass blood to lungs (e.g. subclavian artery to pulmonary = Blalock-Taussig Shunt) or direct from RV to pulmonary (sano shunt). Patch to aorta to improve flow rates. Venous mixing in RV = cyanotic AND high pressure to lungs à pulmonary HTN Glenn procedure (hemi-Fontan) 3-6m. Ligate SVC & connect to pulmonary ciculation AND block Blalock Taussig Shunt. Blood now flows RV à body à SVC à Lungs à RA however mixing still occurs from IVC return therefore still (although less) cyanotic. Improves Sx as less cyanotic & decreases pressure to lungs Fontan procedure 3-5y. Concept is to redirect IVC return to pulmonary artery (either through passage in myocardium or external passage). Now no longer cyanotic. Prognosis: If transplanted / 3 ops à 60% 5 yr survival. 50% of those will have developmental delay (25% severe) No active treatment Pulmonary Stenosis 8% of congenital heart disease Valvular – due to thin but fused valve cusps or thickened dysplasic cusps (as in Noonan’s) Sub-valvular – often assoc. with VSD e.g. Fallot’s Supra-valvular - can be at the main vessel or branches e.g. Williams syndrome, congenital rubella, alagilles syndrome, or can occur post cardiac surgery All types can be part of complex lesion e.g. TGA, tricuspid atresia or double outlet right ventricle Natural history If valvular progression may occur (but not always) Branch pulmonary artery stenosis can improve as the child grows à Right ventricle hypertrophy (if septum hypertrophies can worsen obstruction) Physiology Usually present mid childhood. Loud Ej Sys murmur Heard in pulmonary area & radiates to lungs (back) Can be thrill Right ventricular heave Wide splitting of S2 (NOT FIXED) RV hypertrophies à muscle thickening à further narrowing of outflow Can be cyanotic if severe due to shunting though PFO Clinical features Critical – presents with cyanosis as new-born Severe – may cause heart failure or exercise related syncope / dizziness Mild – mod is asymptomatic in childhood Can have RVH and thrill in pulmonary area (due to pressure drop). Ejection systolic murmur left upper chest & radiating to back Can also get Pansystolic murmur of tricuspid regurg. if severe If valvular then will have ejection click UNTIL severe and mid systolic murmur in pulmonary area and also heard over left lung based Pulmonary artery branch stenosis causes murmur on affected side Investigations ECG – mild = normal, mod / severe = progressive RVH CXR – mild = normal, mode / severe = dilatation of main pulmonary artery ECHO = diagnostic Treatment Balloon dilatation is treatment of choice for valvular and pulmonary artery stenosis Sub-valvular usually requires surgery Mitral Stenosis Rare Usually accompanies other obstructive lesions / ASD / VSD Can develop post rheumatic fever (usually late childhood / adult life) Natural history – mainly due to other lesions. Can develop right heart failure and pulmonary hypertension Clinical features – rumbling mid-diastolic murmur at apex is typical Investigations ECG – Left atrial enlargement, RVH CXR – large left atrium ECHO – usually diagnostic Treatment If congenital then usually surgery If post rheumatic fever then often balloon dilatation Tricuspid stenosis Accompanies other lesions Rarely occurs alone (when does appears as tricuspid atresia) Can occur in Ebstein’s Anomaly REGURGITATNT LESIONS Aortic Regurgitation If as congenital heart disease is usually due to a bicuspid aortic valve. May progress over time Can also be due to endocarditis vegetations, valve distortion due to being drawn into a peri-membranous VSD, post balloon treatment of aortic stenosis, inflammation (e.g. rheumatic fever, collagen disorders) or due to marfan’s syndrome with aortic root dilatation Symptomatic AR in infants is more likely to be due to a aortico-left ventricular tunnel rather than valve problem Cause - Can be 2o to ankylosing spondylitis, Rheumatic fever, congenital bicuspid valve, HTN, Marfan’s, SLE, SBE, Degeneration, Trauma, OI etc Natural history Structural = likely to progress Acute non infective, inflammatory causes may improve if process resolves Infective causes can be rapidly fatal Clinical Features Bicuspid aortic valve and mild AR have no symptoms Severe AR can have breathlessness and heart failure with chest pain Bicuspid aortic valve can have an ejection click at the left lower sternal edge and base AR causes collapsing pulses, dynamic precordium. A blowing diastolic murmur with best heard at mid-left lower sternal edge, heard louder on sitting forward. Can also get a rumbling mid-diastolic murmur heard at apex due to vibration of anterior mitral valve leaflet in the reguritatant jet = Austin Flint Murmur Investigations ECG Bicuspid aortic valve / mild = normal Moderate / severe = LVH with strain CXR – severe AR = cardiomegaly with prominent ascending aorta ECHO – diagnostic Treatment Treat any underlying disease process Treat for failure if present If symptomatic / ECHO evidence of deteriorating function then usually require surgery = valve replacement (either with synthetic valve or by transplanting patients own pulmonary valve into aorta = Ross operation = lasts longer and don’t need anticoagulation Mitral Regurgitation If congenital regurg then valve usually has clefts or holes in leaflets, of leaflets don’t oppose correctly Mitral valve prolapse usually doesn’t causes symptoms until teens (can occur in ASD and Marfan’s) Mitral regurg seen in AVSD or can be secondary to any dilatation Common in acute rheumatic fever (often resolved but can recur) Natural history - Progression can occur but rate is variable and may take decades Clinical Features In childhood are rare. Severe MR causes breathlessness with dynamic precordium and pansystolic murmur (can also have thrill) at apex Valve prolapse is assoc. with arrhythmias and mid-late systolic click, possibly with late systolic murmur at apex Investigations ECG Mild / mod = normal Severe = LVH with strain CXR Mild / mod = normal Severe = large left atrium ECHO – diagnostic Treatment Treat any arrhythmias and underlying disease Surgery if breathless or progressive dilatation of left heart. If valve replacement is required then ALWAYS need prosthetic valve with anticoagulation Mitral Valve Prolapse Extremely common although incidence varies, more common in teens Assoc. with Marfan’s, Elhers-Danlos and many other congenital lesions Can progress to arrhythmias and sudden cardiac death (usually due to ventricular arrhythmias) Anatomy – valve edges fail to oppose and mitral valve billows into left atrium. (Different to flail valve when chordae tendinae rupture after infarct) Clinical features – mid systolic click and late systolic murmur heard best at apex (both change with posture, louder standing, quieter squatting) Diagnosis – with ECHO Tricuspid Regurgutation Usually due to ebstein’s malformation of tricuspid valve (septal leaflet displaced towards apex). Can become stenosed but most commonly regurg. Ebstein’s malformation commonly accompanies severe PS, or pulmonary atresia with intact ventricular septum Can also been secondary to RV dysfunction after perinatal stress and can occur if any pulmonary hypertension Natural History Perinatal TR in structurally normal heart will resolve If due to other causes then prognosis of other lesion is more important Mild cases of Ebsteins are often asymptomatic Severe cases of Ebsteins have huge RA with poor prognosis Clinical features If Ebsteins – shunting right to left at atrial level with hepatomegally (can be pulsatile). Widely split S1 with loud tricuspid component, systolic murmur of varying length & intensity. Commonly have supraventricular arrhythmias TR due to other causes can be silent of cause a mid-pansystolic murmur at lower left sternal edge Investigations ECG Ebsteins – right atrial enlargement, pre-excitation, RAD, small RV voltages Secondary TR – abnormality based on underlying cause CXR - Ebsteins – RA prominence with huge heart if severe ECHO – diagnostic Treatment Treat arrhythmias if present If due to birth asphyxia or high RV pressures then needs no specific treatment Ebsteins may require tricuspid repair or replacement for severe TR and right heart failure Ebstein’s Anomaly 1/25,000 Assoc with lithium in 1st trimester & found in / causes WPW Typically also have abnormalities to valve leaflets 50% will also have ASD / PFO 50% will show WPW on ECG (due to atrialised RV tissue) Physiology Tricuspid valve opening is part way through RV = enlarged RA & small RV Obstruction to outflow of RV Reduced pulmonary blood flow Tricuspid valve often regurges à right atrial enlargement, cardiomegaly and congestive failure in utero Investigations CXR – very large heart, oligaemic lung fields ECG – complete bundle branch blocks & RAH (tall P waves) Treatment – decrease pulmonary resistance with PGE infusion & inhaled NO 30% can develop WPW / SVT Procainamide (AV node slowing would accentuate problem therefore avoid B blockers, Ca channel blockers, Digoxin etc If AF give procainamide / flecainide etc. as will slow accessory pathway. Can use IV amiodarone Pulmonary Valve Incompetence Can occur in pulmonary hypertension from any cause Can follow surgical intervention for RV outflow obstruction Can also be idiopathic in teenagers (with pulmonary regurgitation) Natural History In some cases will deteriorate If post op cause may require valve replacement Clinical Features Due to underlying cause mainly Idiopathic PI can cause breathlessness , reduced exercise tolerance and hepatomegaly If abnormal valve or large pulmonary artery may be an ejection click Can be quiet mid systolic murmur in pulmonary area, or early-mid diastolic murmur in left sternal edge If pulmonary hypertension then PI may be mistaken for mitral stenosis (Graham Steell murmur) Investigations ECG – severe PI = RVH CXR – may show large central pulmonary artery ECHO – diagnostic Treatment – if severe then may need valve replacement CYANOTIC LESIONS 3 main categories • TGA • Right to left lesions • Common mixing situations Transposition of the Great Arteries Aorta arising from right ventricle and pulmonary artery from left ventricle Congenitally corrected TGA VERY rare Atria are also connected incorrectly… Pulmonary venous return passes through (morphological) tricuspid valve into right ventricle and vice versa = DOES NOT CAUSE CYANOSIS unless other coexisting lesion. Often associated with Ebstein’s anomaly of tricuspid valve = right ventricle to left atrial regurgitation = same problems as mitral regurg in normal heart Increased tendency to SVT and complete heart block Clinically – RVH, single S2 and murmurs only if valve disease also present Investigations ECG – right ventricular hypertrophy and strain with Q waves in right chest leads and absent Q waves in V4-6 CXR – broad mediastinum due to unusual connections Treatment – co-existing lesions will need repair Simple TGA More common type of TGA 5% of all congenital heart disease Commonly assoc wirth ASD, VSD and PDA If no connecting lesions then complete collapse on duct closure Physiology To be compatible with life there must be a connection – VSD / ASD / PDA Presents acutely when duct closes May not be a murmur (murmur is due to PDA / VSD / ASD) BUT 2nd sound is very loud as transposed aorta lies anterior, close to chest wall Natural History TGA without VSD present with cyanosis & acidosis at duct closure If sub-valvular pulmonary stenosis then early intense cyanosis Most cases have VSD meaning less marked cyanosis and can present later. Pulmonary vascular disease develops eatly in these cases Clinical Features – early cyanosis with unimpressive murmurs Investigations ECG – RVH, LVH also if severe left ventricular outflow obstruction CXR – cardiomegally with narrow superior mediastinum (due to vessels in front of each other) = egg shaped heart, pulmonary plethora unless pulmonary stenosis (then oligaemia) ECHO – diagnostic Treatment Correct metabolic acidosis with bicarb Resus by opening duct with prostaglandin Balloon septostomy to allow mixing = Rashkind procedure Surgery to reverse wiring (arterial switch) usually done shortly after diagnosis If delayed presentation then left ventricle may not have force to sustain systemic pressures = mustard procedure = atrial switch Right to Left Shunts Occur if obstruction to flow through right heart with natural foramen between right and left e.g. patent foramen ovale Degree of shunting depends on relative pressures Fallot’s (Pulmonary stenosis with VSD) 1. VSD (usually large and high up in septum) 2. + overriding aorta 3. R ventricular outflow tract obstruction (valve or infundibulum) (can be complete = Pulmonary Atresia with VSD) 4. causes RV hypertrophy May also have right sided aortic arch, or additional VSDs Can occur with 22q11 or T21 Natural History A minority of cases have very severe RV outflow obstruction OR complete pulmonary atresia Majority are pink in newborn period. Stenosis progresses through infancy leading to cyanosis by 1 year Physiology Causes increasing R to L shunt = cyanosis More severe PS = earlier presentation. Usually present at approx. 3-6/12. Tett spells – cries in pain, sudden SOB with possible LOC Child squats to increase pulmonary flow (not seen now as detected earlier) Cyanosis and clubbing (due to chronic hypoxia) Clinical Features Clubbing becomes apparent after infancy Hypercyanotic spells can occur during infancy After infancy may observe squatting after exercise Fallot spells – hyperventilation à infundibular spasm à sudden increase in RV obstruction à reverse shunt à restless & cyanosed à reduced blood to lungs à gasp à syncope. During spell murmur is quieter as decreased right ventricular outflow May be thrill in pulmonary area with parasternal heave Systolic murmur at LUSE (due to narrowed outflow tract) Often NO MURMUR as pressures in ventricles are similar and therefore no shunting across VSD Rough systolic murmur at left upper sternal edge which becomes shorter as obstruction progresses Ejection click from aortic valve may be present due to increased flow Risk of – MI, CVA, endocarditis, embolus and cerebral abscess Investigations ECG – RVH CXR – prominent right ventricle, small central pulmonary arteries, pulmonary oligaemia, right aortic arch in 20% ECHO – diagnostic Treatment Tett spells – Knees to chest, O2, beta blockers and analgesia Surgery to close VSD + dilatation of outflow tract – ideally within 1 year If severe then earlier temporary surgery to make anastomosis between subclavian artery and pulmonary artery to increase pulmonary blood flow = modified Blalock procedure = creates artificial DA If pulmonary atresia or pulmonary artery anomalies they may need palliative procedure Critical Pulmonary stenosis with PFO or VSD Severe PS in new-born results in tricuspid regurgitation & R to L shunt through foramen ovale Ductal closure may precipitate deterioration Natural History – early death from profound hypoxia when duct closes OR from early heart failure Clinical Features – cyanosis, hepatomegaly. May have pulmonary outflow murmur, or harsh murmur from lower left sternal edge due to TR Investigations ECG – RVH CXR – RV enlargement, pulmonary oligaemia ECHO – diagnostic Treatment – cardiac catheter balloon valvuloplasty is possible. Pulmonary atresia with intact ventricular septum Pulmonary valve does not open at all Cyanosis in early newborn period which becomes rapidly worse as duct closes ECG – LAD, LVH ECHO – diagnosis Treatment aims to open pulmonary outflow or aim for fontan cirulation Pulmonary atresia with VSD If only have PDA to send blood to lungs then appear as severe ToF If have VSD + PDA + other AortoPulmonary communications then circulation can be very complex with continuous murmurs across chest, ECG shows RVH and LVH, CXR with cardiomegaly. Angiography is required to map the collateral flow & plan surgery Tricuspid Atresia Absence / atresia means only exit from RA is via ASD / foramen ovale Almost always have VSD lesion as well to allow blood to pulmonary circulation. Can be assoc. with pulmonary stenosis Natural History If severe PS / coarctation may be dependent on PDA and therefore collapse on closure Those with transposition and large VSD will develop heart failure with high pulmonary flow after the new-born period If no transposition and small VSD then pulmonary oligaemia With all cases survival beyond infancy is rare without intervention Clinical Features Cyanosis is readily apparent even if high lung flow Single S2 Can have murmur due to VSD or due to PS Investigations ECG – RA enlargement, LAD (approx. -30), LVH CXR – cardiomegaly, LVH, pulmonary vascular markings reduced / increased depending on circulation ECHO – diagnostic Treatment Resus with prostaglandin if required If pulmonary oligaemia then blalock shunt required If low blood flow is high then pulmonary artery banding to protect against pulmonary vascular disease Long term aim is to establish a Fontan type circulation Common Mixing Situations TAPVD Drainage of the pulmonary veins can be • Supra-cardiac (to SVC or tributary) • Cardiac – to RA or coronary sinus • Infra-cardiac – to portal vein or IVC • Mixed – combination of the above Almost always have ASD Can also have VSD / PDA, coarctation or hypoplastic left heart Pulmonary veins can be obstructed at a number of sites, and are always obstructed if infra-diaphragmatic. If obstructed will cause increased cyanosis Natural History – survival beyond infancy does not occur if obstructed, but otherwise can in some cases Clinical Features Cyanosis may not be detected until after the new-born period or can be intense and early If obstructed will appear as recurrent chestiness and FTT TAPVD to portal vein is assoc. with severe obstruction once ductus venosus closes Loud P2 and wide split S2 in unobstructed If obstructed may have no murmur Investigations ECG – RA enlargement, RAD, RVH CXR – cardiomegaly and pulmonary plethora (if high flow). Supra-cardiac will have broad upper mediastinum = cottage loaf heart. If obstructed will have small heart and opaque lung fields. (can be mistaken for RDS) ECHO – usually diagnostic Treatment - Obstructed TAPVD is surgical emergency Truncus Arteriosus Single arterial trunk leaving the heart which then gives rise to aorta, pulmonary and coronary arteries. The truncus usually overrides a large VSD Pulmonary artery attachments to the trunk may vary Can occasionally get interrupted aortic arch Abnormal truncal valve which can be stenosed or regurgitant Strong association with 22q11 Natural history – death in infancy is common. In survivors without surgery pulmonary vascular disease is inevitable Clinical Features Heart failure with cyanosis may not become apparent until a few weeks old Bounding pulses (due to run off from aorta into pulmonary vessels) RVH with ejection click and single S2 VSD rarely causes murmur but may hear murmur due to outlet valve disease Investigations ECG – RAD, RVH +/- LVH CXR – cardiomegaly, pulmonary plethora, may have right sided aortic arch ECHO – diagnostic Treatment – corrective surgery via conduit or patch in early infancy. Give irradiated blood products until proven not to be Di-george Univentricular AV connection Previously / also known as double inlet ventricle / single ventricle Usually VSD to 2nd rudimentary ventricle Usually main ventricle = left ventricle Can also have transposition Natural History – usually poor survival Clinical features – may present early if duct dependent. Otherwise present with heart failure Investigations ECG – rarely normal CXR – rarely normal – cardiomegaly and pulmonary plethora id high flow, otherwise oligaemia ECHO – diagnostic Treatment – corrective surgery to normal circulation is rarely possible. Palliative procedures may help survival Double outlet ventricle Both great vessels arising from one ventricle (right more common than left) DORV can be assoc with mitral atresia – vascular connections and positions determine clinical picture Natural history – depends on presence / absence of VSD & if pulmonary stenosis or atresia is present. Most infants will be symptomatic at an early stage. Clinical features – depending on antomy can mimic Fallots, transposition or VSD Investigations ECG – rarely normal other than in newborn period CXR – cardiomgaly with plethora / normal heart with oligaemia ECHO – diagnostic Treatment – surgical repair / palliation CARDIOMYOPATHY Dilated Cardiomyopathy Dilated left or both ventricles on ECHO AND reduced contractility Commonest cardiomyopathy in children AND commonest reason for new onset post infancy cardiac failure AND commonest indication for cardiac transplant in children Causes Mostly idiopathic Infection – coxsackie B, adenovirium, some bacteria, fungi and parasites Neuromuscular – DMD, congenital myopathies and myotonic dystrophy Metabolic – carnitine deficiency, aminoacidaemias and mucopolysaccharidoses Drugs – anthracyclines (adriamycin) Cardiac lesions – anomalous left coronary artery, Kawasaki, chronic SVT Physiology Impaired contraction of LV à congestive cardiac failure As ventricle enlarges mitral valve is stretched à regurg Presentation with cardiac failure Signs Heart failure Tachycardia, tachypnoea, elevated JVP Gallop rhythm is common May have MR murmur Investigation CXR – cardiomegaly and pulmonary oedema ECG – broadening of QRS & ventricular strain (T wave changes), Left ventricular voltages increase 24 hour ECG – to exclude persistent tachycardia as cause ECHO – assess left ventricular output fraction and dimensions Endocardial fibroelastosis – focal thickening of endocardium of left ventricle, left atrium and left sided valves. Can also get outflow tract obstruction to aorta / narrowing of aorta. ECHO shows “bright” endocardium Myocarditis difficult to differentiate from dilated cardiomyopathy and manage the same Myocarditis (depending on cause) may spontaneously recover if cause is removed (therefore if possible wait before considering for transplant) Very difficult to diagnose Often recent history of viral infection and raised viral titres (coxsackie, ECHO virus, influenza, parainfluenza, HIV, Mumps, Rubella, Measles) Can occasionally be due to bacterial / fungi / paracites Myocardial biopsy is gold standard to indentify inflammatory changes (but changes are patchy and can be missed) NB: biopsy can risk damage to myocardium Management ACEi – prolong survival Avoid hypotension Diuretics if in failure Anticoagulation to avoid embolism Monitor for arrhythmias Prognosis 60% 5 year survival Transplant may be necessary if not resolving BUT many children die while waiting for donor heart (50% of deaths occur in 1st 3 months post onset) so early diagnosis is vital Hypertrophic Cardiomyopathy Unexplained ventricular hypertrophy Most children are asymptomatic on diagnosis and are referred due to a murmur, or due to a family history Signs – vary with degree on left ventricular outflow obstruction Can have double impulse apex beat Fast rising pulse Murmur can sound innocent or resemble MR or AS Obstruction is increased by valsalva manoeuvre and by standing Investigations ECG – ventricular hypertrophy, abnormal Q waves and abnormal ST segments / T waves ECHO – ventricular hypertrophy typically asymmetrical, can be purely apical. Systolic anterior motion of mitral valve (contributes to obstruction) Ambulatory ECG – increased risk of sudden death if episodes of VT Causes Assoc with freidrich’s ataxia, Pompes & familial lentiginosis Noonans 1/3 of all HOCM is due to Noonans, 20% of Noonans have cardiomyopathy. Can present in infancy with severe failure – if does = poor prognosis Infant Hypertrophic Cardiomyopathy Most commonly ventricular hypertrophy due to maternal DM (increased insulin acts as growth factor) Can also occur with Neisidioblastosis and BeckwithWiedemann Syndrome Do resolve to some extend once excess insulin reduces If presents with failure as infant then prognosis is poor Familial hypertrophic cardiomyopathy Usually AD, can be sporadic ,incomplete penetrance (more penetrance in males) Often doesn’t develop until late childhood or adolescence First presentation may be sudden death / CVS collapse Young adolescents are at highest risk of sudden death Treatment Surgery can help to relieve outflow tract obstruction BUT doesn’t always reduce risk of death Propranolol can help Avoid competitive sport Restrictive Cardiomyopathy Rare in children Reduced ventricular compliance with normal systolic function and no ventricular hypertrophy It can be difficult to differentiate from constrictive pericarditis Causes Can be some overlap with hypertrophic cardiomyopathy and some cases of Noonans can have restrictive cardiomyopathy Can occur secondary to amyloid, sarcoid, fabrys in adults but very rarely in children Pseudoanthoma elasticum – rare cause of restrictive cardiomyopathy Loeffler’s disease – hypereosinophilic infiltration (also seen in parasite infections, drug reactions and polyarteritis nodosa) Physiology Can affect one or both ventricles and may have valve involvement If right ventricle involved can have ascites or pericardial effusions Investigations ECHO shows ventricular cavities reduced in size BUT atria can enlarge making CXR show cardiomegaly Complications - Emboli are common as are atrial arrhythmias Prognosis – uncertain due to rare nature of disease Arrhythmogenic right ventricle Abnormal area if dysplasia (fibro-fatty) in free wall of right ventricle which can cause arrhythmias Symptoms worsen with age & sudden death can occur Investigation ECG – the VTs and ectopics have LBBB pattern as arise from dysplastic areas. T wave inversion in V1-4 ECHO – may be normal Treatment – with antiarrhythmic drugs and ablation in some cases Secondary causes of myocardial disease Connective tissue diseases e.g. SLE with maternal anti-Ro antibodies can cause congenital complete heart block and may progress to dilated cardiomyopathy Skeletal myopathies e.g. DMD, BMD will both initially cause hypertrophy, then later dilated cardiomyopathy. There is an X-linked form which only affects myocardium e.g. Barth’s Syndrome - abnormal skeletal muscles, intermittent neutropenia and abnormal mitochondria e.g. Limb Girdle MD can cause atrial arrhythmias and atrial stand-still e.g. Juvenile SMA, Facioscapulohumeral dystrophy and other myopathies can also affect the heart Mitochondrial myopathies May show unusual ragged-red fibres and abnormal mitochondria on muscle biopsy Usually hypertrophic cardiomyopathy e.g. Carnitine deficiency, Acyl-CoA dehydrogenase deficiency, cytochrome c oxidase deficiency e.g. Kearn-Sayre syndrome – external opthalmoplegia, pigmentary retinopathy and heart block Glycogen storage diseases e.g. GSD-IIa (Pompe’s) - AR acid-maltase deficiency with deposition of glycogen in heart, skeletal muscle and liver. ECG shows short PR with increased ventricular voltages. Death in infancy usually due to cardio-respiratory failure e.g. GSD-III (Cori’s) – some ventricular hypertrophy but not severe until late childhood e.g. GSD-IV (Anderson’s) – may present in infancy or later with heart failure due to dilated cardiomyopathy Mucopolysaccharidoses and Mucolipidoses e.g. MPS-I (Hurler’s) and MPS-II (Hunters) have accumulation of polysaccharide in valves (esp mitral and aortic) causing severe regurg and heart failure. Coronary artery narrowing can result in angina and infarction. Dilatation and severe failure result e.g. mucolipidoses including I-cell disease – have symmetrical hypertrophy of heart and may involve valves Glycoproteinoses e.g. In Mannosidosis – short PR on ECG e.g. fusosidosis / sialidosis – variable ventricular hypertrophy / dilatation Lipidoses e.g. Gaucher’s – restrictive cardiomyopathy e.g. multiple sulphatase deficiency – ventricular hypertrophy e.g. Farber’s disease – subcutaneous nodules, cardiomegaly and intracardiac nodules e.g. Fabry’s disease – ventricular hypertrophy (more common in adults) Gangliosidoses e.g. GM1 and GM2 can cause myocardial hypertrophy / dilatation and left sided valve involvement Cardiotoxins e.g. Haemachromatosis – dilated and hypertropies with reduced ventricular function and restricted filling. Can be primary, or secondary to thalassaemia / sickle e.g. Wilsons – dilated cardiomyopathy e.g. Chloroquine and hydroxychloroqine can be cardiotoxic e.g. chemotherapy – anthracycline, cyclophosphamide and cisplatinum e.g. mediastinal radiation And the rest… e.g. Refsum’s disease – peroxisomal disorder with mainly neuro but also cardiomyopathy with heart block e.g. Thyroid disease, hypocalcaemia, hypophosphataemia, chronic anaemia, malnutrition, beri-beri and selenium deficiency (Keshan disease) ACQUIRED HEART DISEASE Infective Endocarditis In developed countries is mostly due to congenital heart disease (most commonly bicuspid / stenotic aortic valves and unoperated VSDs) Mortality of approx 20% Need to consider risk of surgery v. risk of endocarditis Physiology Greater turbulence around a valve = area = greater risk Turbulence disrupts endothelium causing deposition of fibrin and platelets, which then becomes infected Greatest risk is small VSDs, PDAs, mitral / aortic regurgitation, severe outflow tract obstructions and aorto-pulmonary shunts e.g. (Blalock). Also risk with prosthetic valves Large vegetations are at high risk for embolisations Vegetations can take a long time post treatment to be reabsorbed Organisms Streptococci Viridans (alpha-haemolytic) – usually low grade, can be more fulminant if milleri subspecies Staph Aureus – quire fulminant Staph epidermidis – often hospital acquired and immunocompromised post lines / cardiac surgery Candida – also in immunocompromised. Can have large vegetations with poor prognosis Signs Usually insidious onset with malaise, anorexia, arthralgia and fever Signs consistent with underlying cardiac lesion – although can change if valve becomes regurgitant New of changing murmur “Traditional signs” (Oslers nodes, Janeways lesions, Roths spots) are rare in children Investigation Take 3x sets of cultures an hour apart unless overtly septic Causative organism only found in approx. 10% of cases ESR usually elevated (but can be only mildly) Anaemia of chronic disease in 50% Microscopic haematuria in almost 100% ECHO – for valvular vegetations. Treatment IV antibiotics If Viridans - Ben-Pen and gent for 2 weeks, then amoxicillin for 4 If Staph Aureus then Fluclox with gent / fuscidic acid If penicillin allergic use vanc as single agent Monitor response with ESR and cultures Surgery - Usually reserved for heart failure due to valve disruption or if large friable vegetations Complications Death is usually due to infective endocarditis due to severe heart failure If left sided then can embolise to cerebral / renal vessels (can cause mycotic aneurysms / abscesses) Prevention Antibiotics prophylaxis as required CHECK CURRENT NICE GUIDELINES Pericarditis Purulent pericarditis is rare in children & usually secondary to another collection. Can be due to S.Aureus, H.Influ or Str.Pneumoniae. If occurs after cardiac surgery is usually staph Viral pericarditis can occur – esp. with coxsackie group Post Pericardotomy Syndrome Systemic symptoms AND evidence of pericardial effusion Occurs during convalescent period from cardiac surgery (rarely less than a week) If mild High fever with malaise, and sometimes chest pain ECHO shows effusion (can also have asymptomatic effusions post op) Treatment with anti-inflammatory drugs Monitor fluid amounts by ECHO If effusion becomes large then can cause tamponade Elevated venous pressure, hepatomegaly, Small pulse volume with marked pulse volume reduction on inspiration (paradoxus) Soft heart sounds CXR shows globular heart without increased pulmonary vascular markings ECG has low voltage complexes Most patients have ST elevation and widespread T-wave inversion Management – pericardiocentesis with ECG monitoring / ECHO guidance. If recurs may need drain inserted / pleuro-pericardial window so fluid drains into pleural space If continues to recur then consider chyle leak (chylopericardium) – milky white fluid if on normal diet (can be normal if only on IV fluids). Can send for white counts and triglyceride analysis Rheumatic Fever Most common cause of acquired heart disease Peak 5-15 yrs Increased risk if +ve FH (? Genetic susceptibility) and overcrowding Abnormal response to strep infection (strep pyogenes – lancefield group A) Typically begins a week after sore throat (can be upto 5 & longer for sydenham’s chorea) Pathology 2-3 wk latent period between UTRI & RF Initial inflammatory changes Then proliferation with Aschoff’s Nodules (= perivarcular infiltrates of large cells with polymorphic nuclei & basophilic cytoplasm arranged in a rosette around an avascular fibrinoid centre à scarring around Aschoff bodies) and cells with Owl’s eye nuclei Acute stage = pancarditis & friction rub Pericardium = effusion Myocardium = reduced contractility – and often 1st degree heart block, tachycardia, enlargement and arrhythmias Endocardium = valves and chordae tendineae (more on left side, mitral > aortic) à systolic and diastolic murmurs Other system involvement Migratory polyarthritis of large joints (without chronic changes) Subcutaneous nodules and erythema marginatum Chorea – sydenhams chorea / St Vitus’ Dance – insidious onset with mild initial symptoms. Haloperidol and benzos can help symptoms Diagnosis – Duckett-Jones criteria Need 2 major OR 1 major and 2 minor AND evidence of recent strep infection (raised ASOT (over 500) / +ve throat swab / recent scarlet fever) Major criteria Migratory polyarthritis (75%) – occurs 3-4 weeks later Carditis (40-50%) – CCF, SOB, Pericarditis / new murmur (most commonly MR / AR) Subcutaneous nodules (5-10%) – wrists, elbows, knees over tendon/bone. Painless & firm Erythema marginatum (<5%): macular rash (never on face), spreads to form snake like ring (clears in middle). Worse with heat Sydenham's chorea (15%) (St. Vitus' dance / Rheumatic Chorea): rapid movements of the face and arms (including darting tongue and milkmaid’s grasp) = Late sign. Unilateral signs, with muscle weakness. Movements cease / reduce during sleep. Rx with diazepam Minor criteria Fever Arthralgia: Joint pain without swelling Raised ESR / CRP Raised WCC 1st degree heart block on ECG Lab evidence of strep (ASO (>200 U/ml) / DNAaseB) Previous episode of rheumatic fever or inactive heart disease Rheumatic carditis Usually mitral (or aortic) valve – tricuspid/pulmonary are rare Valve lesions start as verrucae of fibrin + blood cells on valve borders Then thickening and shortening of chordae-tendinae Leads to persistent inflammation & fibrosis with calcification End result is chronic MR & LA dilatation à increased risk of AF & endocarditis NB: Rheumatic carditis ONLY needs evidence of carditis = mitral / aortic incompetence (pan sys murmur) / pericardial rub Treatment Mostly preventative (housing conditions etc) Eradicate strep infection (penicillin) Bed-rest during carditis Anti-inflammatories (high dose aspirin = symptomatic relief but no effect on rheumatic process) Steroids (prednisolone) IF acute carditis Heart failure – treat as usual Prophylactic antibiotics to prevent recurrence Prognosis – 75% of those with CCF @ initial phase à valve disease – MOST COMMONLY MITRAL STENOSIS after 10 yrs Connective tissue disease Pericarditis can be seen in JIA and SLE - Usually mild and drainage is only diagnostic (to exclude infection) Myocarditis – can occur more rarely in JIA & SLE Kawasaki’s disease Most common in Japanese population. M>F Rare over age of 10 Diagnosis Fever for 5 days AND 4 out of 5 criteria: • Bilateral conjunctival infection • Changes in mucosa – strawberry tongue, cracked lips, injected pharynx • Extremity changes – oedema, erythema, desquamation • Polymorphous rash • Cervical lymphadenopathy Other signs / symptoms Reddening / crusting around previously healed BCG, arthralgia, arthritis, irritability, aseptic meningitis, hepatic dysfunction, diarrhoea, pneumonitis, otitis media, uveitis, urethritis, thrombocytosis (after 1st week) Cardiac Problems Mortality mainly from myocardial infarction Can be gallop rhythm in initial phase ECG – PR & QT prolongation and altered ST segments (arrhythmias are rare) Can get myocarditis, pericarditis and valve regurgitation ECHO – dilatation of coronary arteries common from 2nd week Aneurysms occur in 20% of untreated children (can occasionally rupture) ½ will resolve over 2 years Resolution can result in stenosis which causes ischaemia Differentials Staph and strep infections (esp. scarlet fever – tend to peel everywhere, not just hands) Steven’s-Johnson syndrome Drug reactions JIA Myoplasma Viral exanthems Rickettsial disease / leptospirosis Treatment Initial High dose aspirin IV Ig (NB – will affect response if MMR vaccine given in next 6 months) Subsequent (after 14 days) - Continue aspirin at lower dose Hypertension Rare BUT can cause visual loss, stroke or cardiac failure Severe hypertension = 8mmHg above 95th Centile for age Hypertension = BP above 95th centile for age Borderline hypertension = 90th-95th centile Causes Essential – often +ve FH, common in teens, rare in younger children Renal parenchymal disease – any type Renovascular disease – stenosis, emboli, vein thrombosis Cardivascular – coarctation, PDA, Aortic regurgitation Endocrine – excess catecholamines, steroids or thyroxine Neurological – raised intracranial pressure, autonomic dysfunction Drugs – including steroids and cyclosporine Investigation History and examination Urinalysis, microscopy and culture Blood haematology, urea and creatinine Renal ultrasound If severe then screen for organ damage Eyes – retinal changes Heart – LVH Kidney – proteinuria and haematuria Treatment Mild hypertension – lifestyle changes Severe essential HTN – drugs (unless obese, then try diet first) MISCELLANEOUS CARDIAC / CARDIO-RESPIRATORY DISORDERS Cardiac tumours Are rare in children. Rhabdomyosarcoma – Most paediatric cardiac tumours Assoc. with tuberous sclerosis Diagnosis often made during fetal life due to rapid growth Some tumours will regress during infancy therefore watch and wait unless significant symptoms Can irritate myocardium and cause arrhythmias e.g VT or act as accessory pathway for STV Teratomas – occasionally seen. Usually intra-pericardial and attach to arteries at base of heart Fibromas – can be difficult to resect Vascular Rings Vascular compression of the trachea can cause stridor in infancy Usually expiratory and present from early neonatal period Assoc. cardiac anomalies in approx.. 10% - usually VSD / cono-truncal (Fallot’s, Truncus arteriosus, Pul atresia with VSD) Majority are caused by double aortic arch, then pulmonary artery sling (left PA arises from right PA) or right aortic arch with aberrant L.subclavian Most can be repaired / ligated via left thoracotomy except left aortic arch with right descending aorta and right PDA / ligament Occasionally can be iatrogenic due to modified blalock shunt Investigation – barium swallow followed by Doppler / angiography / MRI Cor-Pulmonale Cardiac disease induced by respiratory problem Chronic hypoxia causes pulmonary hypertension which causes RVH, dilatation or failure Can also be worsened by compensatory polycythaemia Common causes include severe obstructive sleep apnoea (esp in T21, PierreRobin and macroglossia) or due to Chronic lung disease, neuromuscular disease or scoliosis Treatment aims to reduce pulmonary hypertension Scimitar Syndrome Dextrocardia due to hypoplasia of right lung & right pulmonary artery, anomalous pulmonary venous drainage of right sided veins, to IVC = sword like shape on CXR. Can be assoc. heart disease Absent pulmonary valve syndrome Pulmonary outlet is free to regurgitate, may also have severe stenosis and VSD Gross dilatation of pulmonary arteries causes trachea-bronchial compression and leads to respiratory symptoms. Pulmonary AV malformation Often asymptomatic until present with haemoptysis or progressive cyanosis Demonstrate via pulmonary angiography Multiple lesions are seen with hereditary haemorrhagic telangectasia, some may be assoc. with structural lesions (such as isomerism) or may develop post-surgery (e.g. if Fontan circulation is created) Treatment – transcatheter embolization Pulmonary hypertension Primary pulmonary hypertension is rare in children Can be familial Onset presents with rapid developing right heart failure leading to death. Treatment is difficult (Ca channel blockers can be helpful) Eventually need heart heart-lung transplant Kartageners Syndrome Dextrocardia with situs invertus AND ciliary dyskinesia = AR inheritance Sudden cardiac death in childhood Can be due to myocarditis, HOCM, AS, prolonged QT syndrome, Kawasaki (late complication due to coronary artery aneurysms) or idiopathic (sudden adult death syndrome) If HOCM / prolonged QT then screen family ECG Standard recording 0.04s 25mm/s Means 1 small square = 10mm per mV Means 1 small square = 0.1mV Method of interpretation Changes with Age At birth LV = RV BY 2 months RV:LV = 0.5 meaning emerging left ventricle dominance As heart grows the P and QRS magnitudes increase and durations increase Measurements Heart Rate (300 / RR interval in large squares) PR Interval – start of P to start of QRS QRS duration – start of Q to end of S QT Interval – start of Q to end of T QRS axis (frontal plane) – average direction of ventricular depolarisation Plot net RS deflection from I & aVF 4 - 90o AD R 3 ve o 180 - ve - +ve aVF - 9 + +ve Lead I 0 Normal Axis + 90o Left axis deviation = -30 to -90 = LVH Right axis deviation = + 90 to + 150 = RVH Rhythm Consider relationship of P & QRS complexes Comment on extrasystoles o AD L 13 + Complete heart block – no associations Conduction analysis AV heart block 1st degree – long PR 2nd degree – mobitz II / wenckebach 3rd degree – complete block Intraventricular Block Delay in depolarisation causes widening of QRS complex with NORMAL PR, (if abnormal PR then consider if ventricular rhythm) Septum should depolarise left to right RBBB = M (RSR’) in V1, W (QRS) in V6 MaRRow LBBB = W in V1, m in V6 WiLLiam Abnormal excitation WPW with J wave Wave form description Analysis of individual components of wave (P, QRS etc) P Wave Should have axis of 0 to +90o – if not then ? not sinus, ?heart in wrong place, ? atria not in correct spatial relationship to each other, ? leads ECG of 3 year old with restrictive cardiomyopathy and wrong way around! severe right and left atrial enlargement. Tall (>2.5 mm), wide P Should be less than 2.5mm waves are clearly seen in lead II, and P wave in V1 is markedly high – is bigger = RA biphasic enlargement Should be less than 120ms duration (3 small squares) = LA enlargement PR Interval Start of P to start of QRS complex – value varies with age Interval decreases from birth to 1 year Then gradually increases through childhood If too short = pre-excitation, also seen in Pompe’s disease and DMD If too long = 1st degree heart block. Can be due to drugs (digoxin), intercurrent illness (including RF, diphtheria and Lyme disease), may be familial, or due to structural defects e.g. ASD. Can also occur post op. If isolated then likely benign QRS complex Duration – varies with age. If too long = BBB or pre-excitation (slurring of upstroke) Axis – varies with age At Birth - axis lies between +60 and +160, R waves prominent in right precordium and S waves prominent in left By 1 year gradually changes to +10 to +100 Right axis deviation = RVH Left axis deviation = may be left anterior hemiblock (can occur post-op), or seen in ostium primum ASD, tricuspid atresia & pulmonary stenosis in Noonans syndrome Axis in north west = likely AVSD or complex cardiac anomaly Q Waves Q waves are NOT normal in right chest leads = severe RVH, conduction problem OR surgically corrected TGA Abnormally deep Q waves in II, III, or V4-6 = septal or left ventricular hypertrophy Abnormally large voltages = ventricular hypertrophy Ventricular Hypertrophy Right qR or rSR’ in V1 Upright T in right precordial leads (7d-7y) Marked RAD (esp if RA enlargement) Reversal of adult precordial R & S pattern Left Deep Q in left precordial leads Or lateral ST depression and T wave inversion ECG from 13y with transposition of great arteries and previous Mustard's procedure. The RV is the systemic ventricle and the trace shows right ventricular hypertrophy with marked right axis deviation and a dominant R wave in the right precordial leads 11 y - LVH secondary to systemic hypertension. There are tall voltages in the left precordial and limb leads with secondary ST depression and T wave inversion ST Segments Depression – ischaemia, digoxin therapy Elevation – Pericarditis, reciprocal ischaemic changes (posterior leads), can also be seen in normal teenagers T Waves At birth RV = larger than LV By 1 month LV = bigger than RV By 6 months = ratio of RV:LV = similar to adult à RAD, large R precordial R waves & upright T waves = NORMAL in neonate T wave in V1 inverts by 7d and stays until at least 7 years Upright T wave in right precordial leads (V1-3) between 7d & 7y = usually indicate RVH Inversion – ischaemia, infarction, myocarditis Abnormal axis – conduction disturbance Peaked – hyperkalaemia (then developing to broad QRS and bradycardia with flattened P) Flattened – hypothyroid, hypokalaemia, myocarditism, pericardial effusion (also has small QRS) QT interval Varies with heart rate If > 0.45s then prolonged (check tables for exact variances) Can correct for heart rate by calculating QTc QTc = QT / route of preceding RR Long QTc – drugs (quinidine, procainamide, amiodarone, sotalol), hypocalcaemia, bundle branch block, myocarditis, hypothermia, cerebral injury Prolonged QT syndromes Usually familial Also has notching of T waves, abnormal U waves, relative bradycardia for age and T wave 3y - long QT syndrome alternans. At risk of Prolongation of QT interval in association with T wave alternans (note alternating upright and inverted T waves) ventricular aryhthmia and sudden cardiac death Rate and Rhythm Sinus rhythm Arises in Sinus node P waves with frontal axis of 0-90degrees Sinus Arrhythmia Increase in heart rate on inspiration NORMAL in all children Speed Sin 9y - marked sinus arrhythmia u s tachy can be as fast as 240 in babies and infants Bradycardia can be due to hypoxia, sepsis, acidosis and intracranial lesions Narrow complex tachycardia – usually AV re-entry tachycardia due to accessory pathway If pathway is only anterograde then normal sinus If retrograde conduction then WPW Extrasystole Atrial asystole - very common, rarely assoc with disease Ventricular asystole – also common, if structurally normal heart then almost always benign Typically BOTH disappear with exercise Ventricular extrasystoles Not uncommon and of no significance If symptomatic then investigate and treat ARRHYTHMIAS Age Groups Infants Usually detected by chance or due to causing cardiac failure Transient bradycardia is common with intercurrent illness SVT can rapidly lead to decompensation Childhood Irregular Pulse – common. Usually due to premature atrial / ventricular contraction Palpitations – perceived abnormality of rhythm. Most commonly will be SVT (or VT) Syncope – most commonly vaso-vagal, or due to reflex anoxic event / orthostatic hypotension. May be due to AS, HOCM, Pul HTN or Fallots or arrhythmias Heart failure – uncommon as presenting feature in children Sinus Node Dysfunction (aka sick sinus syndrome) Causes Idiopathic Familial Congenital heart disease (e.g. ASD, AVSD) Cardiomyopathy Inflammation (RF) Ischaemic (kawasakis) Drugs (anti-arrhythmics, vagotonic agents) Endocrine / metabolic (hypoxia, hypothyroid) Increased vagal tone (idiopathic (reflex anoxic), sleep, breath holding, raised ICP, drugs) Surgical (atrial operations) Rhythms can be slow, fast or irregular Brady rhythms due to sinus brady, sinus pause / arrest, or SA node block (delay in conduction from sinus node to atria) Tachy rhythms due to sinus node and atrial muscle re-entry Presentation - Mostly asymptomatic. Sx due to fatigue, exercise intolerance, dizziness or syncope Treatment Short term – atropine / isoprenaline Longer term – may require pacemaker Atrioventricular block First degree heart block Abnormally long PR interval for age (should be < 160ms in infants and < 180 in teens) Assoc with RF, hypothermia, electrolyte disturbance, CHD and some muscular dystrophies Usually benign but may be progressive in some familial cases Second Degree Heart Block Mobitz 1 (Wenckeback Phenomenon) PR Progressively increases until non conducted P wave Seen in normal individuals during sleep Usually asymptomatic and stable with no treatment required Mobitz 2 Intermittent non-conduction of P waves with no variation of PR interval. Usually follows regular pattern e.g. 2:1, 3;1 etc Commonly seen post-surgery in children Can progress into complete heart block Complete Heart Block Atrial impulse cannot propagate Can be congenital (assoc. with anti-Ro Ab, maternal connective tissue disease or long QT syndrome) or occur post-surgery, HOCM, myotonic dystrophy, infective (myocarditis, RF, Lyme disease) Can cause stillbirth Symptoms vary from none to exercise intolerance, syncope, congestive heart failure and sudden death Some have Stokes-Adams attacks – fall to ground and lose conscious Treatment In emergency situation atropine / isoprenaline can help Treat failure as appropriate Pacing is main successful treatment (usually if rate <55bpm) 6y - congenital heart block secondary to maternal antiphospholipid antibodies; there is complete atrioventricular dissociation, and the ventricular escape rate is about 50 beats/min Bundle Branch Block Abnormal depolarisation through bundle of His Causes wide QRS complexes due to delayed depolarisation RBBB in children is most commonly due to surgical ventriculotomy LBBB is rarer and can be due to cardiomyopathy and severe LV outflow tract obstruction Atrial Arrhythmias Premature atrial contraction can be found in upto 20% of normal children. If isolated finding then needs no treatment Chaotic atrial rhythms are occasionally seen in infants = 3+ different morphology P waves. Usually asymptomatic Atrial Flutter Saw tooth P waves on ECG Probably due to atrial re-entry pathway Can be congenital or due to surgery (esp atrial surgery) In the fetus can have a 1:1 conduction causing rates of 300+ leading to hydrops. Treat the mother with digoxin and consider early delivery. Postnatally treat with synchronised cardioversion / further digoxin In older child treat with synchronised cardioversion (relapses common). Digoxin / other Atrial “flutter” in 14y with congenital heart disease and previous atrial surgery (in neonates with atrial flutter, 1:1 atrioventricular conduction is more common, which may make P waves and diagnosis less evident) antiarhythmics may be required. Overdrive pacing frequently works Atrial Fibrilation Rare in children. Check for hyperthyroid (but rarely will be found) Exclude structural / heart muscle disease May be familial in paroxysmal or sustained forms Consider anti-coagulation for several weeks before cardioversion SVT Commonest symptomatic rhythm in children Usually originates proximal to bifurcation of bundle of His Narrow complex tachycardia (often >230) SVT Rate 180-300 Due to impulses from AV node re-entering atria either via AV node or via accessory pathway à premature excitation Can occur in utero à treat the mother Infants – acutely ill, collapsed, grey Rate > 250 ECG – P waves may be present, abnormal or absent, QRS complexes are normal Ectopic Focus Atrial Ectopic Focus Accounts for a considerable number of paediatric STV Treatment of SVT with drugs is rarely successful, but can be slowed with digoxin or beta-blockers Ventricular ectopic focus Rare and ONLY seen in children (never in adults) Most commonly seen post op Focus in AV node / Bundle of His Narrow complex tachycardia with AV dissociation (sinus P waves) Do not usually respond to drugs. May respond to overdrive pacing Re-entry circuits via accessory pathway AV node refractory period is shorter than accessory pathway If atrial ectopic occurs soon after SA depolarisation then travels through AV node which accessory path is refractory Once ventricular depolarisation reaches accessory pathway retrograde conduction occurs stimulating atria and passing through AV node again As ventricle is stimulated via AV node then NORMAL QRS complexes Treatment If well tolerated can allow to revert spontaneously If needs to be terminated then can use vagal maneouvers or ice water, or adenosine if not responding If compromised and adenosine fails then cardioversion Transcatheter ablation may be considered Wolff-Parkinson-White syndrome Short PR interval due to rapid anterograde AV conduction and Broad QRS due to premature activation of ventricle by accessory pathway, then normal depolarisation from AV node Usually structurally normal heart, occasionally ebstein’s anomaly Treatment O2 Vagal stimulation – valsalva / ice water / carotid sinus massage / eyeball pressure Adenosine = AV node blocker. VERY short acting (give as rapid IV bolus) DC shock may be required Recurrent attacks may require digoxin, B blocker or antiarhythmic agents Lown-Ganong-Levine Syndrome Accessory pathway runs from atria direct into bundle of His bypassing AV node Short PR interval with normal QRS complex Permanent junctional reciprocating tachycardia Accessory pathway is via posterior septum. Narrow QRS Re-entry circuits without a bypass tract AV node re-entry tachycardia Second most common cause of paediatric SVT (commonest in adults) Most frequently presents around puberty Antegrade limb through AV node, retrograde through para-AV node fibres ECG shows narrow QRS and can have P waves after QRS Usually responds well to valsalva manoeuvres, almost 100% will respond to adenosine. If recurring problem the digoxin prophylaxis / ablation Sinus Node re-entry tachy and Atrial muscle re-entry tachy Rare Can be difficult to differentiate from atrial ectopic focus Normal QRS but often abnormal P axis Ventricular arrhythmias Start distal to bundle of His Causes – idiopathic, metabolic (hypoxia, acidosis, electrolyte imbalance), congenital (long QT syndrome, congenital heart disease), Acquired (cardiomyopathies, cardiac tumours, Kawasaki), Iatrogenic (post op), Infective (myocarditis, RF) Premature Ventricular Contractions Aka. Extrasystoles, ventricular ectopics, premature beats Occur earlier than expected with abnormal QRS and no preceeding P wave Can be uniform or have varying morphology If occur regularly = bigeminy / trigeminy etc Couplets = 2x PVC without normal in between Normal and need no treatment if: otherwise normal ecg, astmptomatic child, CVS exam normal, disappear with exertion, no FH of note Ventricular Tachycardia 3 or more consecutive beats originating from distal to bundle of His VT is RARE - But wide complex tachy = VT until proven otherwise Rate usually > 120 Can be asymptomatic / syncope / without pulse Polymorphic ventricular tachycardia in 5 year old girl Adenosine will have no effect on VT, but will slow / revert SVT) Can occur in normal heart, but also assoc with mitral valve prolapse, Ebsteins, Fallots and tumours (rhabdomycosarcoma), post op, due to poisoning (esp digoxin and TCA) Ventricular fibrillation Rare in children Uncoordinated ventricular depolarisation with no cardiac output Rapid low amplitude irregular depolarisation with no identifiable QRS Treat with Defibrilation / CPR Long QT syndromes Rare congenital disorder assoc with arrhythmias (most commonly torsades du point – in children is almost always due to long QT) 25-30% cases are sporadic Otherwise inherited as Romano-Ward syndrome (AS) or Jervell LangeNeilsen syndrome (AR with congenital deafness) Often provoked by stress / sudden shock Calculate the QTc interval = QT (start of Q to end of T) / square route of preceeding RR inverval Should be less than 0.44