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Hypertrophic Cardiomyopathy — RACP Paediatrics MCQ

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HardCardiologyHypertrophic CardiomyopathyRACP Paediatrics

A 12-year-old boy has worsening exercise tolerance. ECG shows LVH. Echo shows asymmetric septal hypertrophy with LVOT gradient of 50 mmHg. SAM of the mitral valve is present. Family history of sudden death. What is the diagnosis?

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Correct answer: B — Hypertrophic cardiomyopathy

HCM: autosomal dominant, most commonly caused by mutations in sarcomere protein genes (beta-myosin heavy chain, myosin-binding protein C). Asymmetric septal hypertrophy, SAM, LVOT obstruction. Risk of sudden death. ICD may be indicated.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Cardiomyopathy