家族性扩张型心肌病的分子遗传研究进展

扩张型心肌病是一种以左心室和，或右心室扩大、心肌收缩功能受损为主要特征的心肌疾病，是除冠心病和高血压以外导致心力衰竭的主要病因之一。家族性扩张型心肌病约占扩张型心肌病的35％。目前为止，发现的和扩张型心肌病相关的基因突变主要是心肌蛋白基因突变和细胞骨架蛋白基因突变，此外还有线粒体DNA的突变和能量代谢相关的基因突变。本文对引起家族性扩张型心肌病的分子遗传进展进行了总结。

Molecular Genetic Basis of Familial Dilated Cardiomyopathy

Dilated cardiomyopathy（DCM） is a myocardial disorder characterized by cardiac dilatation and contractile dysfunction of the left and/or right ventricles, which is one of the cause of heart failure in addition to coronary heart disease and hypertention. Familial DCM may account for 35% of DCM. The mutations of sarcomere filament protein and cytoskeletal protein were largely found in familial DCM, and the mutations in mitochondrial DNA were also found in familial DCM. In this review, we focus on the molecular genetics of familial DCM.