IM1.25 | Adult Congenital Heart Disease Presentations — Summary & Reflection

KEY TAKEAWAYS

Adult congenital heart disease presentations divide into acyanotic and cyanotic lesions:

Acyanotic CHD (L→R shunts):
- VSD: pansystolic murmur LLSB; most common CHD
- ASD: fixed split S2 + ESM LUSB; RBBB on ECG; risk of AF, paradoxical embolism
- PDA: continuous machinery murmur; bounding pulses
- Pulmonary stenosis: ESM LUSB + ejection click; RVH
- Coarctation: upper limb hypertension, radio-femoral delay, rib notching on CXR

Cyanotic CHD (R→L shunts):
- Tetralogy of Fallot: VSD + overriding aorta + RVOTO + RVH; boot-shaped heart; most common cyanotic CHD
- Eisenmenger syndrome: end-stage of any large unrepaired L→R shunt; PVR = or exceeds SVR → shunt reversal; central cyanosis + clubbing + polycythaemia; closure CONTRAINDICATED

Bicuspid aortic valve: Most common CHD in adults; accelerated degenerative AS + AR + endocarditis; associated aortopathy (aortic root dilatation) — monitor with regular imaging

Key management principles:
- Close defect if Qp:Qs ≥1.5:1 and PVR <3 Wood units
- Eisenmenger: PAH-targeted therapy (bosentan, sildenafil); NO closure; pregnancy absolutely contraindicated (30–50% maternal mortality)
- Polycythaemia: phlebotomy ONLY for symptomatic hyperviscosity with isovolaemic replacement
- Endocarditis prophylaxis: highest-risk groups only (cyanotic unrepaired CHD, prosthetic valves, prior IE)
- Post-ToF repair: monitor for pulmonary regurgitation → RV dilatation → pulmonary valve replacement when RV EDVI >160 mL/m²

REFLECT

Consider the 28-year-old woman from the opening hook — she has lived with a large VSD for nearly three decades, and the window for surgical correction has permanently closed. The tragedy is not that surgery is technically impossible; it is that it was never performed at the right time. In India, this scenario still plays out regularly because of barriers to diagnosis — rural populations without access to paediatric echocardiography, limited paediatric cardiac surgical capacity, and delayed health-seeking for what seems like 'just breathlessness'. As a physician in India, you will encounter adult CHD patients both in cities and in peripheral settings. The question to ask yourself at every encounter with a young person with unexplained breathlessness, a murmur, or central cyanosis is: has this cardiac condition been properly investigated? How would you explain Eisenmenger syndrome to a 28-year-old who is asking why she cannot have the surgery she was never told she needed as a child? And what systemic actions — better community screening, stronger referral networks for paediatric cardiac surgery — might prevent the next patient from reaching you in this irreversible state?