扩张型心肌病相关致病基因的研究进展

Research Progress of Pathogenic Genes Associated with Dilated Cardiomyopathy

扩张型心肌病(DCM)是一种心肌疾病,以结构(心室扩大)和功能(心肌收缩力降低)异常为特征,发病时除外高血压、心脏瓣膜病、先天性心脏病或缺血性心脏病等,病死率高,预后差,5年病死率为15%~50%。目前扩张型心肌病病因尚不明确,有研究表明扩张型心肌病是遗传异质性的,可通过筛选易感基因对扩张型心肌病进行早诊断、早治疗,现就近年来DCM致病基因研究做简要综述。

Dilated Cardiomyopathy (DCM) is a myocardial disorder characterized by structural (ventricular enlargement) and functional (decreased myocardial contractility) abnormalities, excluding hyper-tension, valvular heart disease, congenital heart disease, or ischemic heart disease. Dilated cardio-myopathy has a high mortality rate and poor prognosis, with a 5-year case fatality rate of 15% to 50%. At present, the cause of dilated cardiomyopathy is not clear, some studies have shown that dilated cardiomyopathy is genetically heterogeneous, and dilated cardiomyopathy can be diag-nosed and treated early by screening susceptibility genes. This is a brief review of the research on DCM pathogenic genes in recent years.