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LMNA Carrier Surveillance — EECC MCQ

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ModerateCardiomyopathyLMNA Carrier SurveillanceEECC

A 35-year-old woman with a family history of DCM undergoes predictive genetic testing and is found to carry a pathogenic LMNA mutation. Her echocardiogram and ECG are currently normal. What surveillance and management strategy is recommended?

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

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Correct answer: C — Regular clinical surveillance (ECG, echo, Holter every 1-2 years) is essential; prophylactic ICD should be considered if risk factors develop (NSVT, LVEF <45%, male sex) even before LVEF falls below 35%, given the high arrhythmic risk of LMNA mutations

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

LMNA (lamin A/C) mutations are the most well-characterised 'arrhythmogenic genotype' in DCM, associated with a high risk of malignant ventricular arrhythmias and conduction disease, often disproportionate to the degree of LV dysfunction. The 2023 ESC Cardiomyopathy Guidelines recommend: (1) regular surveillance with ECG, echocardiography, and 24-hour Holter monitoring every 1-2 years for genotype-positive phenotype-negative carriers; (2) ICD consideration using the Wahbi LMNA risk score (incorporating NSVT, LVEF <45%, male sex, and truncating mutation), with a threshold lower than the standard LVEF ≤35%; (3) early GDMT at the first sign of LV dysfunction. Conduction disease (AV block, sinus node dysfunction) may precede cardiomyopathy and requires pacing.

Reference: ESC (2023): Guidelines on Cardiomyopathies