LMNA公司
心脏病学
心肌病
拉明
医学
内科学
心源性猝死
心力衰竭
心房颤动
基因突变
家族史
房室传导阻滞
室性心动过速
心脏病
突变
遗传学
生物
精神科
基因
核心
作者
Sarah Rachel Lubin,Shweta Paulraj,Jamal Ahmed
出处
期刊:Case Reports
[BMJ]
日期:2023-06-01
卷期号:16 (6): e255605-e255605
标识
DOI:10.1136/bcr-2023-255605
摘要
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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