获得性长QT综合征的遗传学异常

Genetic Abnormalities in Acquired Long QT Syndrome

长QT综合征包括先天性长QT综合征和获得性长QT综合征,是危及生命的心律失常综合征,其特点是心肌复极化延长,导致QT间期延长、尖端扭转型室性心动过速风险,甚至引起反复晕厥及心源性猝死。迄今为止先天性长QT综合征的致病基因已发现20个。其中长QT综合征1～3型约占80%,分别由KCNQ1、KCNH2和SCN5A基因突变所致,随着越来越多的遗传变异在获得性长QT综合征中被发现,现就获得性长QT综合征的遗传学异常做简要综述。

Including congenital long QT syndrome(cLQTS) and acquired long QT syndrome(aLQTS),long QT syndrome (LQTS) is one potentially life-threatening arrhythmia characterized by delayed myocardial repolarization which can cause QT prolongation,torsades de pointes,recurrent syncope even sudden cardiac death.By far,20 genes have been found to cause cLQTS.The LQT1~3 type account for approximately 80% cLQTS type which caused by mutations of KCNQ1,KCNH2 and SCN5A genes.With more and more genetic variations found in aLQTS,we briefly review the genetic abnormalities of aLQTS.