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Family screening – cardiomyopathy — RACP Paediatrics MCQ

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HardCardiologyFamily screening – cardiomyopathyRACP Paediatrics

A 10-year-old’s father has hypertrophic cardiomyopathy, but no pathogenic familial variant has been identified. The child is asymptomatic with a normal examination, ECG and echocardiogram today. What is the appropriate family-screening plan?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: A — Continue serial clinical review, ECG and echocardiography through growth

Explanation lettering: D = shown as A · E = shown as B · B = shown as C · A = shown as D · C = shown as E

D is correct because HCM expression is age dependent; when the family genotype is unresolved, a phenotype-negative first-degree relative remains in serial clinical screening with ECG and echocardiography. A treats a time-limited normal phenotype as lifelong exclusion. B troponin is not a cascade-screening substitute. C uses an excessive and unsupported MRI interval. E exposes an unaffected child to major device harm without a risk indication. Genetic counselling should continue, and identification of a definitive familial variant could later refine which relatives require ongoing surveillance.

Reference: Cardiac Society of Australia and New Zealand, diagnosis and management of hypertrophic cardiomyopathy: https://csanz.edu.au/Common/Uploaded%20files/Smart%20Suite/Smart%20Library/08e39ca0-febb-4d7e-adfa-0b9af2a70795/Diagnosis%20and%20Mangement%20-%20Hypertrophic-Cardiomyopathy%20%282016%29.pdf