PRKAG2基因突变与心脏的关系

PRKAG2 Gene Mutation Associated with Familiar Cardiomyopathy

PRKAG2基因突变与心脏关系密切,可引起类似肥厚型心肌病表现,如心室预激(WPW综合征)、心肌肥厚、心脏传导功能障碍及糖原沉积,被称为PRKAG2心脏综合征。该病为罕见病,属于常染色体显性遗传性疾病,确诊有赖于基因检测。现就近年来PRKAG2基因的功能研究现状做一综述。

Mutations in the PRKAG2 gene are closely related to the heart and can induce a variety of phenotypes similar to hypertrophic cardiomyopathy performance,such as ventricular pre-excitation （ Wolff-Parkinson-White syndrome ）,myocardial hypertrophy, progressing cardiac conduction system dysfunction,and glycogen accumulation,which is defined as PRKAG2 cardiac syndrome. It is rare and belongs to autosomal dominant inherited disease,the diagnosis of which depends on genetic testing. This article rethe disease mechanism of the PRKAG2 cardiac syndrome.