遗传性房室传导阻滞的当前认识  

Current understanding of hereditary atrioventricular block

作　　者：李景东[1] 宣佰军 LI Jingdong;XUAN Baijun(Department of Cardiology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430022,China)

机构地区：[1]华中科技大学同济医学院附属协和医院心内科,武汉430022

出　　处：《临床心血管病杂志》2021年第3期193-196,共4页Journal of Clinical Cardiology

基　　金：国家自然科学基金项目(No:81873476)。

摘　　要：近年来,随着全基因组关联分析、分子研究和光学标测等技术的发展,关于遗传性房室传导阻滞的研究出现了一些新的进展。目前房室传导阻滞分类的遗传意义尚不清楚,房室传导阻滞可能是由损伤引起,也可能是基因变异或相关的心脏病如先天性心脏畸形、心肌病等所致。在临床上,遗传性房室传导阻滞的概念包括先天性房室传导阻滞、进行性心脏传导系统疾病和特发性房室传导阻滞等。本文将对遗传性房室传导阻滞的分子机制和关联的基因组研究新进展进行扼要介绍,并讨论临床上不同类型的遗传性房室传导阻滞的病因与机制。In recent years,with the development of genome wide association study(GWAS),molecular research,and optical mapping,there are some new advances in the study of hereditary atrioventricular block.At present,the genetic significance of the classification of atrioventricular block is not clear.The atrioventricular block may be caused by injury,gene mutation,or related heart diseases,such as congenital heart malformation and cardiomyopathy.Clinically,the hereditary atrioventricular block concept includes congenital atrioventricular block,progressive conduction heart disease,and idiopathic atrioventricular block.Here we summarize the recent molecular and genetic advances on the hereditary atrioventricular block and discuss the broad spectrum of clinical phenotypes and diagnostic features observed in hereditary atrioventricular block patients.

关 键 词：遗传性房室传导阻滞 缝隙连接蛋白 全基因组关联分析 进行性心脏传导障碍 

分 类 号：R541.7[医药卫生—心血管疾病]