心肌病的遗传学研究进展  

Advances in Genetic Research for Cardiomyopathy

作　　者：刘雯[1] 刘文玲[1] 

机构地区：[1]北京大学人民医院心脏中心,北京100044

出　　处：《心血管病学进展》2014年第1期109-114,共6页Advances in Cardiovascular Diseases

摘　　要：心肌病包括遗传性和非遗传性心肌病。遗传性心肌病包括原发于心肌的扩张型心肌病、肥厚型心肌病、限制型心肌病、致心律失常型右室心肌病、左室致密化不全和累及心肌的系统性疾病如Fabry病和Kearns-Sayre综合征。近年来,在心肌病遗传学研究方面取得了很大进展,已发现了相关的多个致病基因和突变,并在发病机制方面进行了探索,但基因型和表型的关系仍未完全阐明。现对遗传性心肌病的临床特点、遗传学和基因筛查的相关进展进行综述。Hereditary cardiomyopathy includes dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, ar rhythmogenic fight ventrieular cardiomyopathy, left ventricular noneompaetion and secondary cardiomyopathy such as Fabry disease and Ke arns-Sayre syndrome. In recent years, great progress had been achieved in revealing of the genetics background of hereditary cardiomyopathy and genetic screening is provided in the large commercial laboratories worldwide. However, the relationship between genotype and phenotype has not yet fully elucidated. Remaining challenges remains in the application of the results of genetic screening to the prognosis of these dis eases. This review provides an overview of inherited cardiomyopathies with a focus on their clinical features, genetic etiology and progress in genetic screening.

关 键 词：心肌病 遗传学 发病机制 基因筛查 

分 类 号：R542.2[医药卫生—心血管疾病]