遗传性心律失常疾病相关离子通道病变的研究进展

Recent advance in inherited arrhythmogenic disease-associated ion channelopathies

心源性猝死（suddencardiacdeath，SCD）是常见的猝死病因。2006年北京阜外医院开展的流行病学调查研究表明，我国每年逾54．4万人死于SCD，而且发病率有逐年上升的趋势。许多心源性猝死事件发生在心脏结构和冠状动脉正常的青年人中。

Sudden cardiac death of young people is mainly caused by arrhythmia with genetic defects, which is called inherited arrhythmogenic diseases （IADs）. The most common kinds of lADs are long QT syndrome （LQTS）, short QT syndrome （ SQTS）, Brugada syndrome （BrS） and catecholaminergic polymorphic ventricular tachycardia （CPVT）. Abnormal cardiac-electrical activities caused by the mutation of the subunit genes coding the ion channels in myocardial cells are the major cause of IADs. In this review, we focus on the advances in pathophysiological and genetic research of the channelopathies mentioned above.