钠通道
导航1.5
Brugada综合征
长QT综合征
错义突变
突变
内科学
心脏病学
钠通道阻滞剂
心源性猝死
遗传学
作者
Carol Ann Remme,Arthur A.M. Wilde,Connie R. Bezzina
标识
DOI:10.1016/j.tcm.2008.01.002
摘要
Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is associated with a number of relatively uncommon arrhythmia syndromes, including long-QT syndrome type 3 (LQT3), Brugada syndrome, conduction disease, sinus node dysfunction, and atrial standstill, which potentially lead to fatal arrhythmias in relatively young individuals. Although these various arrhythmia syndromes were originally considered separate entities, recent evidence indicates more in clinical presentation and biophysical defects of associated mutant channels than previously appreciated. Various SCN5A mutations are now known to present with mixed phenotypes, a presentation that has become known as overlap syndrome of cardiac sodium channelopathy. In many cases, multiple biophysical defects of single SCN5A mutations are suspected to underlie the overlapping clinical manifestations. Here, we provide an overview of current knowledge on SCN5A mutations associated with sodium channel syndromes and discuss a possible role for modifiers in determining disease expressivity in the individual patient.
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