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Family Screening for HCM — EECC MCQ

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ModerateCardiomyopathyFamily Screening for HCMEECC

A 30-year-old woman is referred after her brother died suddenly aged 25. He was found to have HCM at post-mortem. She has no symptoms. Echocardiography shows a maximum wall thickness of 11 mm with normal LVEF. ECG shows T-wave inversion in V4-V6. What is the most appropriate next step?

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Correct answer: B — Cardiac MRI and genetic counselling with cascade genetic testing

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

Per the 2023 ESC Cardiomyopathy Guidelines, first-degree relatives should undergo systematic clinical and genetic evaluation. This patient has borderline wall thickness with ECG abnormalities and a strong family history. CMR may reveal LGE or subtle structural abnormalities. Genetic testing (cascade if proband genotype known) is recommended (Class I). Reassurance (A) is premature. ICD (C) requires formal risk assessment. Beta-blockers (D) are not indicated without confirmed HCM. Exercise testing (E) is less informative than CMR here.

Reference: ESC (2023): Guidelines for the Management of Cardiomyopathies