长QT综合征分子遗传学进展及国人基因变异汇总  

Advances in molecular genetics of long QT syndrome and summary of gene variants in Chinese

作　　者：李翠兰[1] 高元丰 刘文玲[1] LI Cuilan;GAO Yuanfeng;LIU Wenling(Department of Cardiology,Peking University People's Hospital,Beijing,100044,China;Heart Center,Beijing Chaoyang Hospital Affiliated to Capital University of Medicine)

机构地区：[1]北京大学人民医院心内科,北京100044 [2]首都医科大学附属北京朝阳医院心脏中心

出　　处：《临床心血管病杂志》2023年第3期176-181,共6页Journal of Clinical Cardiology

基　　金：国家自然科学基金项目(No:81170089)。

摘　　要：长QT综合征(LQTS)是首个被发现的心脏离子通道病,是引起青少年猝死的重要原因,包括先天性LQTS(cLQTS)和获得性LQTS(aLQTS)。已经发现了至少17个致病基因,但根据欧洲/美国/亚太/拉美心律学会最新发布的2022版心脏病基因检测专家共识,只建议对其中11个证据明确的基因进行临床常规检测。本文就17个LQTS亚型的分子致病机制及其特征性临床表现的最新进展进行综述,并对已报道的国人LQTS基因变异进行总结,最后讨论分子遗传学检测在LQTS诊断治疗中的作用。Long QT syndrome(LQTS), the first discovered cardiac channelopathy, is an important cause of sudden death in adolescents, including congenital LQTS(cLQTS) and acquired LQTS(aLQTS). At least 17 disease-causing genes have been identified, but according to the 2022 edition of the "Expert Consensus on Genetic Testing for Heart Disease" released by the European/American/Asia-Pacific/Latin American Heart Rhythm Society, routine testing of only 11 of these genes with clear evidence is recommended. In this paper, the molecular pathogenesis mechanism and characteristic clinical manifestations of 17 LQTS subtypes are reviewed, and the reported LQTS gene variants of Chinese people are summarized, and the role of genetic test in the diagnosis and treatment of LQTS is finally discussed.

关 键 词：心律失常 先天性长QT综合征 获得性长QT综合征 分子致病机制 基因变异 诊断治疗 

分 类 号：R541.7[医药卫生—心血管疾病]