Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster

在同一家族聚集性病例中,层粘蛋白A/C心肌病表现为高度房室传导阻滞、心房颤动、心力衰竭和室性心动过速。

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Abstract

Mutations in the lamin A/C (LMNA) gene have been associated with both cardiac and skeletal muscle abnormalities. Cardiac manifestations in LMNA cardiomyopathy have a variable age of onset and range from mild to life-threatening. We describe a case series illustrating manifestations of LMNA mutation in a single family with an extensive history of cardiac disease, including sudden cardiac death, and the implications for diagnosis and management. This discussion highlights potential presentations of LMNA mutations and the importance of genetic testing in patients with a family history of conduction abnormalities.

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