Deletion of the entire LMNA gene is highlighted as a cause of cardiomyopathy, which is associated with a high risk of arrhythmias, heart failure, and sudden cardiac arrest.
LMNA deletion may warrant intensified arrhythmia surveillance; extends laminopathy spectrum but remains hypothesis-generating pending larger cohorts.
Cardiomyopathy caused by dominant mutations in LMNA is associated with a high incidence of atrial fibrillation, ventricular arrhythmias, and atrioventricular block that often precedes systolic dysfunction. Patients with LMNA cardiomyopathy are at high risk for sudden cardiac arrest, stroke, and heart failure. Other phenotypes associated with mutated LMNA, including skeletal myopathy and lipodystrophy, may also accompany cardiomyopathy.1 Point mutations (either missense or truncating) in LMNA are present in ∼5% to 10% of familial or sporadic dilated cardiomyopathy and are characterized by age-dependent penetrance that approaches 100% by middle age in both probands and relatives.
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Cirino et al. (2020) studied this question.
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