Pediatrics
Final Professional MBBS — Pediatrics. Complete question bank: Long Questions (10 marks) and Short Notes (5 marks) across all 15 systems, with clinical pearls, drug doses, staging tables, mnemonics and key-point recaps.
DEFINITION
A Ventricular Septal Defect (VSD) is an abnormal opening in the interventricular septum that allows communication between the two ventricles. It is the commonest congenital heart disease (~30% of all CHD) and is an acyanotic, left-to-right shunt lesion.
TYPES (by location)
- Perimembranous — the commonest type (~70%), in the membranous septum.
- Muscular — in the muscular septum; often multiple; many close spontaneously.
- Inlet (AV-canal type) and outlet (supracristal) defects.
HAEMODYNAMICS
Higher LV pressure → blood shunts L → R across the VSD → ↑ Pulmonary blood flow & volume overload of LA/LV → If large & long-standing → pulmonary arterial hypertension → Reversal to R → L shunt = Eisenmenger syndrome (cyanosis)
The size of the shunt depends on the size of the defect and the pulmonary vascular resistance (PVR). A small (restrictive) VSD has a big pressure drop and a small shunt; a large VSD equalises ventricular pressures and produces a large shunt once the neonatal PVR falls.
CLINICAL FEATURES
- Small VSD: usually asymptomatic; a loud, harsh pansystolic murmur at the left lower sternal border with a thrill (the 'maladie de Roger').
- Large VSD: presents at 6–8 weeks (as PVR falls) with heart failure — poor feeding, sweating, tachypnoea, recurrent chest infections and failure to thrive.
- Signs — pansystolic murmur, precordial thrill/heave, a loud P2 (pulmonary hypertension) and a mid-diastolic mitral flow murmur (large shunt).
- The softer the murmur becomes with a loud single S2, the more one should worry about developing pulmonary vascular disease.
INVESTIGATIONS
- Chest X-ray — cardiomegaly with increased pulmonary vascular markings (plethora) in large shunts; normal in small VSD.
- ECG — normal (small); left or biventricular hypertrophy (large); right ventricular hypertrophy suggests pulmonary hypertension.
- Echocardiography — the investigation of choice; confirms the site, size, shunt direction and haemodynamic effects.
- Cardiac catheterisation — to assess PVR and reversibility in advanced pulmonary hypertension.
MANAGEMENT
- Small VSD: conservative — most close spontaneously; reassurance, follow-up and maintaining good dental/oral hygiene.
- Large VSD with heart failure: anti-failure treatment — diuretics (furosemide), ACE inhibitors, and sometimes digoxin — plus nutritional support (high-calorie feeds) for catch-up growth.
- Definitive: surgical (or device) closure for a large shunt, failure to thrive despite medical therapy, or rising pulmonary pressures — done before irreversible pulmonary vascular disease develops.
- Treat and prevent chest infections; ensure immunisation.
COMPLICATIONS
- Congestive heart failure and recurrent respiratory infections in infancy.
- Pulmonary arterial hypertension → Eisenmenger syndrome (shunt reversal, cyanosis — then inoperable).
- Infective endocarditis; aortic regurgitation (with outlet defects); growth failure.
PROGNOSIS
Small VSDs have an excellent prognosis and often close on their own. Large defects, if corrected early, do well; if left untreated they lead to heart failure and, eventually, irreversible Eisenmenger physiology — hence the importance of timely diagnosis and surgery.
SPECTRUM BY SIZE
Small (restrictive) Moderate Large (non-restrictive) Shunt Small Moderate Large Symptoms None Mild Heart failure in infancy Murmur Loud, harsh Loud + thrill May be softer + loud P2 Course Often closes May close Needs closure DIFFERENTIAL DIAGNOSIS OF A PANSYSTOLIC MURMUR
- Mitral regurgitation (apical, radiating to axilla), tricuspid regurgitation.
- The VSD murmur is loudest at the left lower sternal border and is harsh.
ASSOCIATED CONDITIONS
VSD may be isolated or part of syndromes (e.g. Down syndrome — AV-canal type) and complex lesions (Tetralogy of Fallot, truncus arteriosus).
INFECTIVE ENDOCARDITIS PROPHYLAXIS
Good oral/dental hygiene is essential; antibiotic prophylaxis before certain procedures is reserved for high-risk situations as per current guidelines.
EISENMENGER SYNDROME (the feared end-stage)
A large, uncorrected VSD keeps the pulmonary arteries exposed to high pressure & flow, causing irreversible pulmonary vascular disease. Pulmonary pressure eventually exceeds systemic pressure and the shunt reverses to right-to-left — the child becomes cyanosed and inoperable. This is why large shunts must be closed early.
CLINICAL MONITORING
- Track growth, feeding, respiratory infections and signs of heart failure.
- Serial echocardiography for shunt size and pulmonary pressures; refer for closure before pulmonary vascular disease sets in.
💊KEY DRUG DOSES (viva)- Furosemide 1–2 mg/kg/dose; enalapril 0.1–0.5 mg/kg/day (afterload reduction).
- Digoxin 8–10 µg/kg/day (selected cases).
🔑KEY POINTS TO REMEMBER- VSD = commonest CHD; acyanotic left-to-right shunt.
- Small: loud pansystolic murmur, often closes; large: heart failure at 6–8 wk.
- Large shunt → pulmonary hypertension → Eisenmenger (shunt reversal, cyanosis, inoperable).
- Echo is diagnostic; small = observe, large = anti-failure + closure before pulmonary disease.
- IE risk — maintain oral hygiene.
📝CLINICAL / APPLIED POINTS- Commonest CHD; small VSD = loud murmur that often closes; large = infancy heart failure.
- Echo is diagnostic; treat heart failure and close large defects early.
- Beware the softening murmur + loud P2 → developing pulmonary hypertension.
- Eisenmenger (shunt reversal, cyanosis) makes it inoperable — so close in time.
- Maintain oral hygiene for endocarditis prevention.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; IAP cardiology guidelines.DEFINITION
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart disease beyond infancy. It is a right-to-left shunt lesion resulting from a single developmental abnormality — anterior deviation of the infundibular septum — that produces four components.
THE FOUR COMPONENTS
- Ventricular Septal Defect (VSD) — large.
- Overriding of the aorta — the aorta sits over the VSD.
- Pulmonary stenosis / RV outflow obstruction — this determines the severity.
- Right Ventricular Hypertrophy (RVH) — a consequence of the outflow obstruction.
💡CLINICAL PEARL: The degree of pulmonary (RV outflow) stenosis is the key determinant of cyanosis. Severe stenosis → more right-to-left shunting → earlier and deeper cyanosis; mild stenosis → 'pink Fallot'.HAEMODYNAMICS
RV outflow obstruction raises RV pressure → Deoxygenated blood shunts R → L across the VSD into the aorta → Reduced pulmonary blood flow + systemic desaturation → Cyanosis, clubbing and polycythaemia
CLINICAL FEATURES
- Central cyanosis — onset and severity depend on the degree of pulmonary stenosis (often after the neonatal period).
- Clubbing of the fingers and toes; dyspnoea on exertion; failure to thrive.
- Squatting after exertion (increases systemic vascular resistance → reduces the right-to-left shunt → improves pulmonary flow).
- Hypercyanotic ('Tet') spells — paroxysmal deep cyanosis with hyperpnoea.
- Signs — an ejection systolic murmur of pulmonary stenosis at the left upper sternal border, and a single second heart sound.
INVESTIGATIONS
- Chest X-ray — a 'boot-shaped' heart (coeur en sabot) with an uplifted apex and a concave pulmonary bay; oligaemic (dark) lung fields; a right-sided aortic arch in ~25%.
- ECG — right ventricular hypertrophy and right axis deviation.
- Echocardiography — diagnostic; defines all four components and the RV outflow anatomy.
- Investigations for polycythaemia (raised haematocrit) and its effects.
MANAGEMENT — Hypercyanotic Spell (acute)
- Knee-chest position (or hold the infant with knees to chest) — increases systemic resistance and venous return.
- Oxygen; morphine (calms hyperpnoea); IV fluids (volume).
- Beta-blocker (propranolol/esmolol) to relax the infundibular spasm; phenylephrine to raise systemic resistance; sodium bicarbonate for acidosis.
MANAGEMENT — Definitive & Preventive
- Oral propranolol prophylaxis to reduce the frequency of spells while awaiting surgery.
- Maintain hydration; treat anaemia (iron) as relative anaemia worsens spells.
- Surgery: a palliative Blalock-Taussig shunt in very small/symptomatic infants, and total intracardiac correction (VSD closure + relief of RV outflow obstruction) as the definitive treatment.
COMPLICATIONS
- Hypercyanotic spells; cerebral thrombosis (from polycythaemia) and brain abscess.
- Infective endocarditis; growth failure; and complications of chronic hypoxia.
SPECTRUM OF SEVERITY
- 'Pink' TOF — mild pulmonary stenosis, minimal right-to-left shunt, little/no cyanosis (behaves like a VSD).
- Classic cyanotic TOF — moderate–severe stenosis with cyanosis.
- TOF with pulmonary atresia — the most severe, duct-dependent form.
DIFFERENTIAL DIAGNOSIS OF A CYANOTIC NEWBORN/CHILD (the '5 Ts')
- Tetralogy of Fallot, Transposition of great arteries, Truncus arteriosus.
- Tricuspid atresia, Total anomalous pulmonary venous connection.
- TOF is distinguished by the boot-shaped heart, oligaemic lungs and the ejection systolic murmur.
WHY SQUATTING HELPS
Squatting kinks the femoral arteries and raises systemic vascular resistance, which reduces the right-to-left shunt and forces more blood through the lungs — relieving cyanosis. It is a characteristic self-protective manoeuvre in older children with TOF.
PROGNOSIS
Untreated TOF carries significant mortality from spells, hypoxia and complications. With modern surgery (total correction, usually in infancy) the outlook is excellent, though lifelong cardiology follow-up is needed for residual lesions and arrhythmias.
ASSOCIATED ANOMALIES
- A right-sided aortic arch (~25%); atrial septal defect ('pentalogy of Fallot').
- Association with 22q11 deletion (DiGeorge) syndrome — screen for it.
PRINCIPLES OF CHRONIC CARE
- Maintain hydration and treat anaemia (iron) — a relatively low haemoglobin worsens tissue hypoxia and spells.
- Prevent dehydration (fever, diarrhoea) which increases the risk of spells and cerebral thrombosis; ensure good dental hygiene.
💊KEY DRUG DOSES (viva)- Spell: morphine 0.1–0.2 mg/kg; propranolol 0.01–0.1 mg/kg IV / esmolol; phenylephrine; NaHCO₃ for acidosis.
- Prophylaxis: oral propranolol 1–2 mg/kg/day.
🔑KEY POINTS TO REMEMBER- TOF = commonest cyanotic CHD; VSD + overriding aorta + pulmonary stenosis + RVH.
- Degree of pulmonary stenosis determines cyanosis.
- 'Boot-shaped' heart, oligaemic lungs; ejection systolic murmur + single S2.
- Squatting & knee-chest raise systemic resistance and reduce the shunt.
- Spell: knee-chest, O2, morphine, fluids, beta-blocker; definitive = total correction.
📝CLINICAL / APPLIED POINTS- 4 components; the degree of pulmonary stenosis governs cyanosis.
- Boot-shaped heart, oligaemic lungs, ejection systolic murmur, single S2.
- Squatting/knee-chest raise SVR and reduce the right-to-left shunt.
- Manage a spell: knee-chest, O2, morphine, fluids, beta-blocker, phenylephrine.
- Definitive = total surgical correction; propranolol prevents spells meanwhile.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; IAP cardiology guidelines.DEFINITION
Acute Rheumatic Fever is a delayed, immune-mediated, multisystem inflammatory disease that follows an untreated Group A streptococcal (GAS) throat infection. It affects the heart, joints, brain, skin and subcutaneous tissue, and is the commonest cause of acquired heart disease in children (age 5–15 years) in developing countries.
PATHOGENESIS
- It follows GAS pharyngitis (not skin infection) after a latent period of ~2–3 weeks.
- Molecular mimicry — antibodies against streptococcal M-protein cross-react with the body's own tissues (heart, joints, brain), causing inflammation.
- The heart shows a pancarditis with characteristic Aschoff bodies on histology.
MODIFIED JONES CRITERIA (2015) FOR DIAGNOSIS
Diagnosis needs evidence of a preceding GAS infection PLUS either 2 major, OR 1 major + 2 minor criteria.
MAJOR criteria (mnemonic — JONES / CASES) MINOR criteria Carditis (clinical & subclinical/echo) Fever Arthritis (migratory polyarthritis of large joints) Arthralgia Subcutaneous nodules Raised ESR / CRP Erythema marginatum Prolonged PR interval on ECG Sydenham chorea — Evidence of preceding GAS: raised or rising ASO / anti-DNase B titre, a positive throat culture / rapid antigen test, or recent scarlet fever.
KEY CLINICAL FEATURES
- Carditis — the most serious feature; a pancarditis, with the mitral valve most affected (then aortic) → new murmurs (mitral/aortic regurgitation), cardiomegaly, heart failure.
- Arthritis — migratory, asymmetric polyarthritis of large joints; dramatically responsive to aspirin.
- Sydenham chorea — involuntary, purposeless movements, emotional lability (a late feature).
- Erythema marginatum — a transient, non-itchy rash with serpiginous margins on the trunk.
- Subcutaneous nodules — painless, firm nodules over extensor surfaces (associated with severe carditis).
INVESTIGATIONS
- Evidence of GAS — ASO titre, anti-DNase B, throat swab.
- Acute-phase reactants — raised ESR and CRP; leukocytosis.
- ECG — prolonged PR interval (first-degree heart block).
- Echocardiography — detects valvular regurgitation (including subclinical carditis) and pericardial effusion.
MANAGEMENT
- Eradicate the streptococcus — a single dose of IM benzathine penicillin (or a 10-day oral penicillin course); erythromycin if allergic.
- Anti-inflammatory — aspirin for arthritis/mild carditis; corticosteroids (prednisolone) for severe carditis with heart failure.
- Sydenham chorea — rest, a calm environment, and haloperidol/sodium valproate/carbamazepine if severe.
- Bed rest and treatment of heart failure as needed.
PREVENTION
- Primary prevention — prompt treatment of streptococcal sore throat with penicillin.
- Secondary prophylaxis — benzathine penicillin IM every 3–4 weeks to prevent recurrences; the duration depends on the presence and severity of carditis (from 5 years/up to 21 years of age, up to lifelong with valve damage).
EPIDEMIOLOGY
- Peak age 5–15 years; associated with poverty, overcrowding and untreated streptococcal throat infections.
- Still common in developing countries; the leading cause of acquired heart disease in the young.
DETAILED FEATURES OF ARTHRITIS & CHOREA
- Arthritis — flitting/migratory, affecting large joints (knees, ankles, elbows, wrists) one after another; each joint is inflamed for a few days; it is very responsive to salicylates and leaves no deformity.
- Sydenham chorea — appears late (months after the sore throat); purposeless movements, muscular incoordination, emotional lability and 'milkmaid's grip'; may occur alone.
DIFFERENTIAL DIAGNOSIS
- Juvenile idiopathic arthritis, septic/reactive arthritis, and other connective-tissue diseases (for the arthritis).
- Viral myocarditis and congenital/other acquired heart disease (for the carditis).
COMPLICATIONS & PROGNOSIS
The joints, skin and brain features resolve completely, but carditis can cause permanent valve damage (RHD). Recurrences (each risking more valve damage) are prevented by secondary prophylaxis — hence its lifelong importance in those with carditis.
SUPPORTIVE CARE & FOLLOW-UP
- Bed rest during the acute phase, graded as carditis improves; treat heart failure.
- Regular follow-up to monitor for evolving valve disease and to ensure adherence to secondary prophylaxis.
ROLE OF ECHOCARDIOGRAPHY
Echocardiography detects subclinical carditis (valvular regurgitation not audible clinically), which is now accepted as a major criterion — it is essential in every suspected case.
💊KEY DRUG DOSES (viva)- Benzathine penicillin 6 lakh U (<27 kg) / 12 lakh U (≥27 kg) IM single dose.
- Aspirin 50–75 mg/kg/day (arthritis/mild carditis); prednisolone 2 mg/kg/day (severe carditis).
- Chorea: haloperidol / sodium valproate.
🔑KEY POINTS TO REMEMBER- ARF follows GAS pharyngitis (2–3 wk later) via molecular mimicry.
- Modified Jones: 2 major, or 1 major + 2 minor, + evidence of GAS.
- Major (JONES/CASES): carditis, arthritis, chorea, erythema marginatum, nodules.
- Carditis is most serious (mitral > aortic); Aschoff bodies on histology.
- Treat: penicillin + anti-inflammatory; secondary prophylaxis prevents recurrence.
📝CLINICAL / APPLIED POINTS- Follows GAS pharyngitis; diagnose by modified Jones criteria + evidence of GAS.
- Carditis (mitral > aortic) is the most serious feature.
- Migratory large-joint arthritis responds dramatically to aspirin.
- Eradicate strep + anti-inflammatory + treat heart failure/chorea.
- Secondary prophylaxis (benzathine penicillin) prevents recurrences and RHD.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; WHO/AHA revised Jones criteria (2015).DEFINITION
Congestive cardiac failure (CCF) is a clinical syndrome in which the heart is unable to pump enough blood to meet the body's metabolic demands, or can do so only at the cost of raised filling pressures. In children its presentation and causes differ significantly from adults.
CAUSES (by age — a useful framework)
- Neonate: duct-dependent lesions — hypoplastic left heart, critical coarctation of the aorta, critical aortic stenosis, TGA; also birth asphyxia and severe anaemia.
- Infant: large left-to-right shunts — large VSD, PDA, AV canal defect (as PVR falls); supraventricular tachycardia.
- Older child: rheumatic heart disease, myocarditis, cardiomyopathy, infective endocarditis, arrhythmias, and cor pulmonale.
- Non-cardiac — severe anaemia, sepsis, acute nephritis (fluid overload), thyrotoxicosis.
CLINICAL FEATURES
The three groups of signs — of impaired myocardial performance, pulmonary congestion (left heart) and systemic congestion (right heart):
- Impaired performance / adrenergic: tachycardia, gallop rhythm, sweating, poor feeding, cold peripheries, cardiomegaly and failure to thrive.
- Pulmonary congestion (left heart): tachypnoea, respiratory distress, feeding difficulty, recurrent chest infections and basal crepitations/wheeze.
- Systemic congestion (right heart): tender hepatomegaly (the most reliable sign in infants), raised JVP (hard to see in infants), and periorbital/facial puffiness (dependent oedema is uncommon in infants).
💡CLINICAL PEARL: In infants, feeding is the equivalent of exercise — breathlessness, sweating and tiring during feeds is an early sign of heart failure. Tender hepatomegaly is the most reliable sign of systemic congestion (not ankle oedema).INVESTIGATIONS
- Chest X-ray — cardiomegaly (cardiothoracic ratio > 0.55–0.6 in infants) and pulmonary venous congestion.
- ECG — chamber hypertrophy, arrhythmia, or ischaemic/myocarditic changes.
- Echocardiography — identifies the structural cause and assesses ventricular function.
- Supportive — CBC (anaemia), electrolytes, renal & thyroid function, and blood gas.
MANAGEMENT — General measures
- Nurse propped up; ensure rest; give oxygen for distress/hypoxia.
- Salt and judicious fluid restriction; correct anaemia, infection and electrolyte disturbances.
- Nutritional support — energy-dense feeds (small, frequent; NG feeds if tiring).
MANAGEMENT — Drug therapy
- Diuretics — furosemide (± spironolactone) to relieve congestion (first-line).
- ACE inhibitors — enalapril/captopril reduce afterload (especially for left-to-right shunts and cardiomyopathy).
- Digoxin — improves contractility in selected cases.
- Beta-blockers (carvedilol) in chronic cardiomyopathy once stable; inotropes (dopamine/dobutamine/milrinone) in decompensated/acute failure.
TREATING THE CAUSE
Definitive treatment addresses the underlying problem — surgical/device closure of shunts, valve treatment for RHD, correction of arrhythmias, and treatment of anaemia or nephritis. Medical therapy controls symptoms while the cause is addressed.
COMPENSATORY MECHANISMS (and why they eventually fail)
- Sympathetic activation → tachycardia and vasoconstriction (maintains BP but increases cardiac workload).
- Renin-angiotensin-aldosterone activation → salt & water retention (raises preload but causes congestion).
- Ventricular hypertrophy/dilatation → initially helps, later worsens function.
- These mechanisms account for the clinical signs and are the targets of drug therapy (diuretics, ACE inhibitors, beta-blockers).
GRADING — Modified Ross Classification (infants)
- Class I: asymptomatic.
- Class II: mild tachypnoea/sweating with feeds.
- Class III: marked tachypnoea/sweating with feeds; prolonged feeding time; failure to thrive.
- Class IV: symptoms (tachypnoea, retractions, grunting) at rest.
DIFFERENTIAL DIAGNOSIS
Respiratory causes of tachypnoea (pneumonia, bronchiolitis), sepsis, and metabolic acidosis can mimic heart failure — the presence of cardiomegaly and hepatomegaly and an abnormal echocardiogram point to a cardiac cause.
MONITORING & PROGNOSIS
Monitor weight, feeding, respiratory rate, liver size and urine output. Prognosis depends on the underlying cause — excellent when a correctable lesion (shunt, arrhythmia, anaemia) is treated, guarded in cardiomyopathy.
ACUTE DECOMPENSATED HEART FAILURE
- Oxygen, prop-up position, and IV furosemide for congestion.
- IV inotropes (dopamine/dobutamine/milrinone) for poor perfusion; correct acidosis, arrhythmia and precipitating factors.
- Ventilatory support if in respiratory failure; urgent treatment of the reversible cause.
PREVENTION
Early detection and correction of congenital lesions, prevention of rheumatic fever, prompt treatment of anaemia and infections, and immunisation all reduce the burden of childhood heart failure.
💊KEY DRUG DOSES (viva)- Furosemide 1–2 mg/kg/dose ± spironolactone 1–2 mg/kg/day.
- Enalapril 0.1–0.5 mg/kg/day; digoxin 8–10 µg/kg/day; carvedilol (chronic).
- Inotropes (dopamine/dobutamine 5–10 µg/kg/min) for decompensation.
🔑KEY POINTS TO REMEMBER- CHF causes by age: neonate (duct-dependent), infant (large shunts), older (RHD/myocarditis).
- Feeding is the infant's 'exercise'; tender hepatomegaly is the key congestion sign.
- Cardiomegaly + hepatomegaly + abnormal echo point to a cardiac cause.
- Treat: diuretics, ACE inhibitors, digoxin (± beta-blockers), and the underlying cause.
- Ross classification grades severity in infants.
📝CLINICAL / APPLIED POINTS- Framework causes by age (neonate/infant/older child) to find the cause.
- Feeding is the infant's exercise; tender hepatomegaly signals congestion.
- Cardiomegaly + hepatomegaly + abnormal echo point to a cardiac cause.
- Diuretics + ACE inhibitors ± digoxin; inotropes for decompensation.
- Always treat the underlying cause (shunt, arrhythmia, anaemia, nephritis).
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; IAP cardiology guidelines.DEFINITION
Kawasaki disease is an acute, self-limiting medium-vessel vasculitis of young children (usually < 5 years), of unknown cause. Its importance lies in its predilection for the coronary arteries — it is a leading cause of acquired heart disease in children in developed countries.
ETIOLOGY & PATHOGENESIS
- The cause is unknown; an abnormal immune response to an infectious trigger in a genetically predisposed child is proposed.
- There is a generalised vasculitis of medium-sized arteries, with a special tendency to involve the coronary arteries → aneurysm formation.
DIAGNOSTIC CRITERIA (clinical)
Diagnosis requires fever for ≥ 5 days PLUS at least 4 of the following 5 features (mnemonic — CRASH and burn):
Feature Description C — Conjunctivitis Bilateral, bulbar, non-exudative R — Rash Polymorphous (any type), truncal A — Adenopathy Cervical lymphadenopathy, usually unilateral, > 1.5 cm S — Strawberry tongue Red, cracked lips; strawberry tongue; oral mucosal erythema H — Hands & feet Erythema/oedema acutely; periungual desquamation (peeling) later + burn = high, persistent fever ≥ 5 days 💡CLINICAL PEARL: The peeling (desquamation) of the finger/toe tips is a late (2nd week) sign — do not wait for it to make the diagnosis, as treatment must be given within the first 10 days to prevent coronary damage. 'Incomplete Kawasaki' (fewer criteria) is common in infants.CLINICAL COURSE (phases)
- Acute (1–2 weeks): high fever and the diagnostic features; the child is very irritable.
- Subacute (2–4 weeks): fever settles; desquamation, thrombocytosis and the peak risk of coronary artery aneurysms.
- Convalescent: clinical recovery; inflammatory markers normalise.
INVESTIGATIONS
- Raised inflammatory markers — high ESR and CRP; neutrophilic leukocytosis.
- Thrombocytosis (a very high platelet count) in the second week (characteristic).
- Anaemia; sterile pyuria; raised transaminases; hyponatraemia.
- Echocardiography — at diagnosis and follow-up, to detect coronary artery aneurysms (the key complication).
MANAGEMENT
- Intravenous immunoglobulin (IVIG) 2 g/kg as a single infusion — given within the first 10 days; it markedly reduces the risk of coronary aneurysms.
- Aspirin — high (anti-inflammatory) dose in the acute phase, then low (anti-platelet) dose until inflammation and platelets normalise.
- IVIG-resistant cases — a second dose of IVIG, corticosteroids, or infliximab.
- Long-term cardiology follow-up (with antiplatelet/anticoagulation) if aneurysms develop.
COMPLICATIONS
- Coronary artery aneurysms — the major complication (→ thrombosis, myocardial infarction, sudden death).
- Myocarditis, pericarditis, arrhythmias; and (rarely) arterial aneurysms elsewhere.
⚠️DANGER / REMEMBER: Kawasaki disease should be suspected in any young child with an unexplained fever for ≥ 5 days — early IVIG (within 10 days) is the single most important step to prevent lifelong coronary disease.DIFFERENTIAL DIAGNOSIS
- Viral exanthems (measles, adenovirus), scarlet fever, and drug reactions (Stevens-Johnson).
- Toxic shock syndrome, juvenile idiopathic arthritis (systemic), and staphylococcal scalded skin syndrome.
- The persistent high fever + coronary risk distinguish Kawasaki and mandate prompt treatment.
INCOMPLETE (ATYPICAL) KAWASAKI DISEASE
Some children — especially infants < 6 months — have prolonged fever with fewer than 4 features. Because they are at high risk of coronary aneurysms, the diagnosis is supported by raised inflammatory markers and echocardiographic changes, and they are treated even without the full criteria.
RISK FACTORS FOR CORONARY INVOLVEMENT
- Young age (< 1 year); prolonged fever; delayed or no IVIG treatment; and IVIG resistance.
- Persistently high inflammatory markers.
FOLLOW-UP & PROGNOSIS
With timely IVIG the great majority recover fully. Children who develop coronary aneurysms need long-term cardiology follow-up with antiplatelet/anticoagulant therapy and surveillance for ischaemia.
ASPIRIN — CAUTIONS
- High-dose aspirin is used despite the usual paediatric caution (Reye syndrome risk), because the benefit in Kawasaki outweighs the risk.
- Watch for and avoid concurrent varicella/influenza; continue low-dose aspirin until inflammation and platelets normalise (or long-term if aneurysms persist).
KEY LEARNING POINTS
- Suspect Kawasaki in any child with fever ≥ 5 days and mucocutaneous signs.
- IVIG within 10 days is the single most important step to protect the coronaries; always do an echocardiogram.
💊KEY DRUG DOSES (viva)- IVIG 2 g/kg single infusion within 10 days (key coronary protection).
- Aspirin high-dose 30–50 mg/kg/day (acute) → low-dose 3–5 mg/kg/day (until inflammation/platelets settle).
🔑KEY POINTS TO REMEMBER- Kawasaki = medium-vessel vasculitis of children < 5 yr; risks coronary aneurysms.
- Fever ≥ 5 days + 4/5 of CRASH (Conjunctivitis, Rash, Adenopathy, Strawberry tongue, Hands/feet).
- Thrombocytosis in week 2; echo for coronary aneurysms.
- IVIG 2 g/kg within 10 days + aspirin — the key to preventing coronary disease.
- Suspect incomplete Kawasaki in febrile infants.
📝CLINICAL / APPLIED POINTS- Fever ≥ 5 days + 4/5 CRASH features; suspect incomplete forms in infants.
- Thrombocytosis in week 2; echo to look for coronary aneurysms.
- IVIG 2 g/kg within 10 days is the key coronary-protective step.
- High- then low-dose aspirin; second-line IVIG/steroids if resistant.
- Long-term cardiology follow-up if aneurysms develop.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; AHA Kawasaki disease guidelines.DEFINITION
Patent Ductus Arteriosus (PDA) is the persistence, after birth, of the fetal ductus arteriosus — the vessel connecting the pulmonary artery to the aorta. Failure of its normal closure results in an acyanotic, left-to-right shunt (aorta → pulmonary artery).
NORMAL CLOSURE & RISK FACTORS
- The ductus normally closes functionally within 1–3 days and anatomically by 2–3 weeks (rising oxygen and falling prostaglandins cause closure).
- PDA is common in preterm infants, in congenital rubella syndrome, and at high altitude.
CLINICAL FEATURES
- A continuous 'machinery' murmur (systolic + diastolic) at the left infraclavicular / upper sternal area.
- Wide pulse pressure with bounding ('collapsing') peripheral pulses.
- A large PDA → heart failure, failure to thrive and recurrent chest infections; a small one is asymptomatic.
INVESTIGATIONS
- Echocardiography — diagnostic (shows the duct and shunt).
- Chest X-ray — cardiomegaly and pulmonary plethora in large shunts; ECG — LV/biventricular hypertrophy.
MANAGEMENT
- Preterm: fluid restriction and a prostaglandin inhibitor — indomethacin or ibuprofen — to close the duct; paracetamol is an alternative.
- Term / persistent PDA: device (catheter) closure or surgical ligation.
- Treat associated heart failure medically in the interim.
⚠️DANGER / REMEMBER: In duct-dependent congenital heart lesions the opposite is required — prostaglandin E1 is given to KEEP the duct OPEN until surgery. Context decides whether the duct must be closed or kept patent.COMPLICATIONS OF A LARGE PDA
- Heart failure and failure to thrive; recurrent chest infections.
- Pulmonary arterial hypertension → Eisenmenger syndrome if untreated.
- Infective endocarditis (endarteritis).
KEY EXAM POINT
The murmur of PDA is continuous ('machinery'), unlike the systolic murmurs of VSD/ASD — and the pulses are bounding with a wide pulse pressure.
💊KEY DRUG DOSES (viva)- Indomethacin 0.2 mg/kg/dose × 3 (12-hourly), or ibuprofen 10 mg/kg then 5 mg/kg × 2 — to close a preterm PDA.
- Paracetamol 15 mg/kg/dose 6-hourly is an alternative.
- Prostaglandin E1 0.01–0.05 µg/kg/min to KEEP the duct open in duct-dependent lesions.
🔑KEY POINTS TO REMEMBER- PDA = persistent ductus → aorta-to-pulmonary (left-to-right) shunt.
- Continuous 'machinery' murmur, bounding pulses, wide pulse pressure.
- Preterm: close with indomethacin/ibuprofen; term: device/surgical closure.
- In duct-dependent lesions, prostaglandin E1 keeps the duct OPEN.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics.DEFINITION
An Atrial Septal Defect (ASD) is an opening in the interatrial septum causing an acyanotic, left-to-right shunt at the atrial level. It is a common CHD, more frequent in girls.
TYPES
- Ostium secundum — the commonest (in the region of the fossa ovalis).
- Ostium primum — low defect, part of AV-septal defects (associated with Down syndrome).
- Sinus venosus — near the entry of the SVC/IVC (with anomalous pulmonary venous drainage).
HAEMODYNAMICS & CLINICAL FEATURES
- Left-to-right shunt → right heart volume overload and increased pulmonary flow.
- Often asymptomatic in childhood (a large shunt may cause exertional dyspnoea, recurrent chest infections, failure to thrive).
- Signs — a wide, fixed splitting of the second heart sound (the hallmark) with an ejection systolic murmur in the pulmonary area (increased flow across the pulmonary valve).
INVESTIGATIONS
- ECG — right axis deviation and incomplete right bundle branch block (RBBB); left-axis in ostium primum.
- Chest X-ray — cardiomegaly with pulmonary plethora; echocardiography is diagnostic.
MANAGEMENT & COMPLICATIONS
- Small ASDs may close spontaneously; a significant shunt is closed by a device (catheter) or surgery, usually in early childhood.
- If untreated over decades → pulmonary hypertension, atrial arrhythmias, and paradoxical embolism.
PARADOXICAL EMBOLISM & LATE RISKS
- An ASD allows a venous clot to cross to the systemic circulation (paradoxical embolism → stroke).
- Long-standing large shunts cause pulmonary hypertension and atrial arrhythmias in adulthood.
KEY EXAM POINT
The hallmark of ASD is a wide, FIXED splitting of S2 — it does not vary with respiration, unlike normal physiological splitting.
TIMING OF CLOSURE
A haemodynamically significant ASD (right heart enlargement) is usually closed electively in early childhood (around 3–5 years) — most often by a transcatheter device for secundum defects — to prevent long-term pulmonary hypertension and arrhythmia.
🔑KEY POINTS TO REMEMBER- ASD = atrial-level left-to-right shunt (ostium secundum commonest).
- Hallmark: wide, FIXED splitting of S2 + pulmonary ejection systolic murmur.
- Often asymptomatic; ECG shows RAD + incomplete RBBB.
- Device/surgical closure in early childhood; risk of paradoxical embolism.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics.DEFINITION
In Transposition of the Great Arteries (TGA), the aorta arises from the right ventricle and the pulmonary artery from the left ventricle (ventriculo-arterial discordance). It is the commonest cyanotic CHD to present in the newborn period.
HAEMODYNAMICS
- Two parallel circulations are set up — deoxygenated blood recirculates to the body and oxygenated blood to the lungs.
- Survival depends on mixing between the two circuits through a PDA, ASD or VSD.
- As the ductus closes, cyanosis worsens dramatically.
CLINICAL FEATURES
- Severe central cyanosis from birth / the first days of life, often without much respiratory distress ('happy blue baby').
- Cyanosis is unresponsive to oxygen; a murmur may be absent unless there is an associated VSD.
- Progressive hypoxia, acidosis and heart failure if mixing is inadequate.
INVESTIGATIONS
- Chest X-ray — an 'egg-on-side' (egg-on-a-string) cardiac silhouette with a narrow pedicle.
- Echocardiography — diagnostic; defines the anatomy and mixing sites.
MANAGEMENT
- Prostaglandin E1 infusion — to keep the ductus arteriosus open and maintain mixing (immediate life-saving step).
- Balloon atrial septostomy (Rashkind procedure) — to improve atrial-level mixing.
- Arterial switch operation — the definitive surgical correction, done in the neonatal period.
WHY IT IS AN EMERGENCY
In simple TGA the two circulations run in parallel and are incompatible with life unless the deoxygenated and oxygenated blood can mix. As the ductus closes, cyanosis and acidosis worsen rapidly — hence the immediate need for prostaglandin and, often, balloon atrial septostomy.
PROGNOSIS
Untreated TGA has very high early mortality; with prompt stabilisation and the arterial switch operation, long-term outcomes are now excellent.
CLINICAL CLUE
Suspect TGA in a newborn with severe cyanosis that does not improve with oxygen and with relatively little respiratory distress. The chest X-ray shows an 'egg-on-side' heart; urgent echocardiography confirms it and prostaglandin is started immediately.
🔑KEY POINTS TO REMEMBER- TGA = aorta from RV, PA from LV; commonest cyanotic CHD in the newborn.
- Parallel circulations — survival needs mixing (PDA/ASD/VSD).
- Severe cyanosis from birth, unresponsive to oxygen; 'egg-on-side' heart.
- Prostaglandin E1 + balloon septostomy → arterial switch operation.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics.DEFINITION
Rheumatic Heart Disease (RHD) is the chronic valvular damage that results from one or more attacks of acute rheumatic fever. It is a major cause of acquired heart disease and cardiac morbidity in children and young adults in developing countries.
VALVES AFFECTED
- The mitral valve is most commonly involved, followed by the aortic valve; the right-sided valves are rarely affected.
- Mitral regurgitation predominates in the acute/early stage; mitral stenosis develops later after recurrent attacks.
CLINICAL FEATURES
- Depend on the valve lesion — exertional dyspnoea, palpitations, fatigue, and features of heart failure.
- Characteristic murmurs — a pansystolic murmur (mitral regurgitation) or a mid-diastolic murmur with a loud S1 (mitral stenosis).
- Complications — heart failure, atrial fibrillation, infective endocarditis, and systemic embolism.
DIAGNOSIS
- Echocardiography is the key investigation (defines the valve lesion and severity); ECG and chest X-ray support it.
SECONDARY PROPHYLAXIS (the cornerstone of prevention)
- Benzathine penicillin G, IM every 3–4 weeks — to prevent recurrent rheumatic fever and further valve damage (oral penicillin/erythromycin if injections are refused/allergic).
- Duration: ARF without carditis → 5 years or until age 21 (whichever is longer); with carditis but no residual disease → 10 years or until 21; with residual valve disease → up to 10 years after the last attack or until age 40, often lifelong.
MANAGEMENT OF ESTABLISHED RHD
- Treat heart failure; anticoagulation for atrial fibrillation; infective-endocarditis awareness.
- Balloon valvotomy or valve surgery for significant stenosis/regurgitation.
PRIMARY vs SECONDARY PREVENTION
- Primary prevention — prompt penicillin treatment of streptococcal sore throat to prevent the first attack of ARF.
- Secondary prevention — regular benzathine penicillin to prevent recurrences in a child who has already had ARF/RHD.
KEY EXAM POINT
The mitral valve is affected first and most often; mitral regurgitation dominates early disease and mitral stenosis is a late sequel of recurrent attacks.
💊KEY DRUG DOSES (viva)- Secondary prophylaxis — benzathine penicillin 6/12 lakh U IM every 3–4 weeks.
- Oral penicillin V 250 mg BD or erythromycin if injection refused/allergic.
🔑KEY POINTS TO REMEMBER- RHD = chronic valve damage after ARF; mitral valve most affected.
- Mitral regurgitation early; mitral stenosis late (after recurrences).
- Echo is the key investigation.
- Secondary prophylaxis (benzathine penicillin every 3–4 wk) is the cornerstone.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; WHO RHD guidelines.DEFINITION
Infective endocarditis (IE) is a microbial infection of the endocardium — usually the heart valves — leading to the formation of vegetations (masses of platelets, fibrin and organisms). It usually occurs on a previously abnormal heart.
PREDISPOSING FACTORS & ORGANISMS
- Underlying congenital heart disease (VSD, PDA, TOF) or rheumatic valve disease; prosthetic valves; indwelling catheters.
- Commonest organisms — Streptococcus viridans (subacute, after dental procedures) and Staphylococcus aureus (acute, virulent).
CLINICAL FEATURES
- Persistent fever with malaise, weight loss, and a changing / new heart murmur.
- Splenomegaly; peripheral stigmata — petechiae, splinter haemorrhages, Osler nodes (tender), Janeway lesions (painless), and Roth spots (retina).
- Embolic and immune-complex phenomena (haematuria, arthralgia).
DIAGNOSIS (Modified Duke Criteria)
- Major: positive blood cultures (typical organisms) and echocardiographic evidence of vegetations.
- Minor: predisposing heart condition, fever, vascular/immunologic phenomena, and suggestive microbiology.
- Blood cultures (3 sets) and echocardiography are the key investigations.
MANAGEMENT & PREVENTION
- Prolonged IV bactericidal antibiotics (4–6 weeks), guided by culture and sensitivity; surgery for heart failure, large vegetations or failed therapy.
- Prophylactic antibiotics before dental/surgical procedures in high-risk children (prosthetic valves, previous IE, certain CHD), plus good oral hygiene.
KEY PERIPHERAL SIGNS (mnemonic)
- Osler nodes — tender nodules on finger pulps (immune).
- Janeway lesions — painless macules on palms/soles (embolic).
- Roth spots — retinal haemorrhages with pale centres; splinter haemorrhages.
KEY EXAM POINT
Suspect IE in any child with congenital/rheumatic heart disease who has a persistent fever with a changing murmur — send three blood cultures before antibiotics and do an echocardiogram.
MODIFIED DUKE CRITERIA — DIAGNOSTIC RULE
- Definite IE = 2 major, OR 1 major + 3 minor, OR 5 minor criteria.
- Major: typical organism in 2 blood cultures; echo evidence of vegetation/new regurgitation.
- Minor: predisposing heart lesion, fever, vascular phenomena (Janeway), immune phenomena (Osler/Roth), single positive culture.
💊KEY DRUG DOSES (viva)- Empirical: penicillin/ampicillin + gentamicin, or vancomycin + gentamicin, IV for 4–6 weeks.
- Directed by culture & sensitivity; add ceftriaxone as indicated.
🔑KEY POINTS TO REMEMBER- IE = infection of endocardium/valves on abnormal hearts (CHD/RHD).
- Strep viridans (subacute), Staph aureus (acute).
- Fever + changing murmur + Osler nodes/Janeway lesions/Roth spots.
- 3 blood cultures + echo (vegetations); Duke criteria; prolonged IV antibiotics.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics; Modified Duke criteria; AHA IE prophylaxis.DEFINITION
A hypercyanotic (or 'Tet') spell is a paroxysmal episode of acutely worsening cyanosis with hyperpnoea, occurring most classically in Tetralogy of Fallot. It is a medical emergency that can lead to syncope, seizures and death.
PRECIPITATING FACTORS
- Typically occur in the morning on waking, and are triggered by crying, feeding, defecation, or exertion.
- Anything that reduces systemic vascular resistance or increases infundibular spasm.
MECHANISM
Trigger → infundibular (RV outflow) spasm + fall in systemic resistance → Increased right-to-left shunt across the VSD → Sudden fall in pulmonary blood flow → severe hypoxaemia → Hyperpnoea (worsens the cycle) → deep cyanosis, limpness
CLINICAL FEATURES
- Sudden deep cyanosis, rapid deep breathing (hyperpnoea), irritability and inconsolable crying.
- The murmur becomes softer/disappears during a spell (less flow across the pulmonary outflow).
- Severe spells → limpness, syncope, convulsions.
MANAGEMENT (stepwise)
- Knee-chest position (or hold the infant with knees flexed onto the chest) — the first and simplest step.
- Oxygen; calm the child; morphine (reduces hyperpnoea and infundibular spasm).
- IV fluids (volume); beta-blocker (propranolol/esmolol) to relieve infundibular spasm.
- Phenylephrine (or squatting/knee-chest) to raise systemic resistance; sodium bicarbonate for acidosis.
PREVENTION
- Oral propranolol prophylaxis; maintain hydration; correct anaemia; and early surgical correction of the underlying TOF.
KEY DIFFERENCE FROM RESPIRATORY CAUSES
Unlike respiratory cyanosis, a Tet spell is not relieved by oxygen alone and is dramatically helped by the knee-chest position, which raises systemic resistance and reduces the right-to-left shunt.
KEY EXAM POINT
During a spell the ejection systolic murmur softens or disappears (less blood crosses the obstructed RV outflow) — a paradoxical but important sign that the spell is severe.
💊KEY DRUG DOSES (viva)- Knee-chest position; O₂; morphine 0.1–0.2 mg/kg; IV fluids 10–20 mL/kg.
- Propranolol/esmolol, phenylephrine; NaHCO₃ for acidosis; prevent with oral propranolol 1–2 mg/kg/day.
🔑KEY POINTS TO REMEMBER- Tet spell = paroxysmal cyanosis + hyperpnoea in TOF.
- Trigger → infundibular spasm/↓ SVR → ↑ right-to-left shunt.
- Murmur softens during a spell (less flow across the outflow).
- Knee-chest, O2, morphine, fluids, beta-blocker, phenylephrine; not relieved by O2 alone.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics.DEFINITION
An innocent (functional or physiological) murmur is a heart murmur that occurs in the absence of any structural cardiac abnormality. Such murmurs are very common — heard in up to 50% of normal children at some time — and are benign.
CHARACTERISTICS (the '7 S's of an innocent murmur')
- Soft (grade ≤ 2/6) and Systolic (never purely diastolic).
- Short duration; Sensitive (varies with position/respiration).
- Single (no added sounds), with a Small area of radiation and a Sweet (soft, musical) quality.
- Normal S2; no thrill, no symptoms, and a normal ECG/X-ray.
COMMON TYPES
- Still's murmur — a low-pitched, vibratory/musical systolic murmur at the lower left sternal border (the commonest).
- Venous hum — a continuous murmur below the clavicle that disappears on lying down or turning the head.
- Pulmonary flow murmur — a soft ejection systolic murmur in the pulmonary area.
FEATURES SUGGESTING A PATHOLOGICAL (NOT INNOCENT) MURMUR
- A loud (grade ≥ 3) murmur, a thrill, or a diastolic murmur.
- An abnormal second heart sound, added sounds, or radiation.
- Symptoms (cyanosis, breathlessness, poor feeding, failure to thrive) or abnormal pulses/ECG/X-ray.
MANAGEMENT
An innocent murmur needs no treatment and usually no investigation — only reassurance of the family. If any pathological feature is present, echocardiography and cardiology referral are indicated.
WHY THEY OCCUR
Innocent murmurs arise from normal turbulent blood flow across normal structures, and are commoner during fever, anaemia or exercise (high-output states) — they may disappear when the child is well and calm.
APPROACH
- A careful history and examination usually distinguish innocent from pathological murmurs.
- If all features are reassuring, only reassurance is needed; any concerning feature warrants echocardiography.
WHEN TO REFER
- Any murmur that is loud (≥ grade 3), diastolic, or accompanied by a thrill.
- An abnormal S2, added sounds, abnormal pulses, cyanosis, or symptoms (poor feeding, breathlessness, failure to thrive).
- Diagnostic uncertainty — echocardiography settles the question.
🔑KEY POINTS TO REMEMBER- Innocent murmur = no structural disease; heard in up to 50% of children.
- 7 S's: Soft, Systolic, Short, Sensitive, Single, Small radiation, Sweet; normal S2.
- Types: Still's murmur, venous hum, pulmonary flow murmur.
- No treatment/investigation — reassure; refer if any pathological feature.
📚SOURCES: Ghai Essential Pediatrics; Nelson Textbook of Pediatrics.