Brugada综合征遗传学若干进展  

Advances on Genetics Related to Brugada Syndrome

作　　者：潘洁[1] 姚文亮[1] 胡康新[1] 

机构地区：[1]南昌市医学科学研究所,江西南昌330001

出　　处：《心血管病学进展》2015年第4期468-471,共4页Advances in Cardiovascular Diseases

摘　　要：Brugada综合征为一遗传性致心律失常性疾病,心电图显示右心室导联ST段抬高2 m V与T波倒置,而心脏结构正常,易罹心室颤动和心脏性猝死。Brugada综合征为常染色体显性遗传伴发不完全性外显,SCN5A基因突变已被确认为Brugada综合征主要致病原因,占接近30%患者;其他16个基因突变也连结到Brugada综合征只占5%,剩下65%Brugada综合征患者无肯定遗传学背景。现综述Brugada综合征遗传学若干进展。Brugada syndome（ BrS） is an inherited arrhythogensic disorder that exhibits ECG ST-segment elevation≥2 m V with a negative T-wave in the right precordial leads（ V1~ V2）,with normal heart structure,predisposing to ventricular fibrillation and sudden cardiac death. Genetically BrS is autosome dominant accompanied by incomplete penetrance,and mutation in SCN5 A gene had been identified as the main pathogenic cause of BrS. Besides,other 16 gene mutation also links to BrS,but mutation in SCN5 A accounts for approximately 30% and those in other genes 5%,leaving no definitive genetic background in 65% of BrS patients. Some advances on genetics related to BrS were reviewed in this paper.

关 键 词：BRUGADA综合征 遗传学 SCN5A基因 基因突变 

分 类 号：R541.7[医药卫生—心血管疾病]