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AVSD – Down syndrome — RACP Paediatrics MCQ

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ModerateCardiologyAVSD – Down syndromeRACP Paediatrics

A 3-month-old presents with poor feeding, tachypnoea, diaphoresis during feeds, and hepatomegaly. Chest X-ray shows cardiomegaly with pulmonary plethora. ECG shows biventricular hypertrophy. There is a Down syndrome phenotype. What is the most likely cardiac diagnosis?

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Correct answer: C — AVSD

AVSD (atrioventricular septal defect) is the most common cardiac defect associated with Down syndrome (~40% of cardiac lesions in trisomy 21). It typically presents with heart failure at 2-3 months as pulmonary vascular resistance falls and left-to-right shunting increases. Surgical repair is usually performed at 3-6 months.

Reference: RCH Melbourne – 2023 – Heart Failure CPG; RACP Paediatric Curriculum – Cardiology