肥厚型心肌病的基因研究进展  

Advances in Gene Research of Hypertrophic Cardiomyopathy

作　　者：吴刚[1] 石少波[2] 杨波[2] WU Gang;SHI Shaobo;YANG Bo(Renmin Hospital of Wuhan University,Wuhan 430060,Hubei,China;Department of Cardiology,Renmin Hospital of Wuhan University,Wuhan 430060,Hubei,China)

机构地区：[1]武汉大学第一临床学院,湖北武汉430060 [2]武汉大学人民医院心内科,湖北武汉430060

出　　处：《心血管病学进展》2018年第1期45-48,共4页Advances in Cardiovascular Diseases

基　　金：湖北省技术创新专项重大项目(2016ACA153)

摘　　要：肥厚型心肌病是以心肌肥厚、心肌纤维化、肌细胞排列紊乱为病理特征的原发性心肌病,是年轻人和运动员常见猝死原因之一,肥厚型心肌病是一种基因突变所导致的常染色体显性疾病。近年来研究发现多种基因突变类型与肥厚型心肌病发生发展及临床表型有关。现主要就近年来关于肥厚型心肌病常见的基因突变与其临床意义的研究做一综述。Hypertrophic cardiomyopathy(HCM)is a primary cardiomyopathy characterized by myocardial hypertrophy,myocardial fibrosis,and muscle cell disorder.It is one of the common causes of sudden death in young people and athletes.HCM is an autosomal dominant disorder caused by a genetic mutation.Recent studies have found that the types of mutations are associated with the development and clinical phenotype of HCM.In this paper,we reviewed the recent studies on the gene mutation and its clinical significance in patients with HCM.

关 键 词：肥厚型心肌病 遗传 基因 

分 类 号：R542.2[医药卫生—心血管疾病] Q343.1[医药卫生—内科学]