家族性扩张型心肌病常见突变的研究进展

Gene Mutations and Familial Dilated Cardiomyopathy

扩张型心肌病(DCM)患者预后差,5年存活率约为45%,是引起慢性心力衰竭的第三大病因和心脏移植的最常见原因。现缺乏特异性治疗方法,多为对症治疗。近年来,基因突变成为DCM的研究热点,不断发现的致病基因使家族性DCM的早期诊治和改善预后成为可能。目前,已发现的可导致家族性DCM的突变基因超过60个,这些突变基因的研究将有助于进一步揭示DCM的致病机制。

Dilated cardiomyopathy （DCM） has poor prognosis, with the 5-year survival rate of about 45%. DCM is the third leading cause of congestive heart failure and the most common cause of heart trans- plantation. Now specific therapy of DCM is deficient, and symptomatic treatments are the main methods. Recently,gene mutation has become a hot spot in the study of DCM. Increasing pathogenic genes are con- stantly discovered,which makes it possible to diagnose and interfere patients with DCM in early stages and improve the prognosis. Currently, it has been demonstrated that more than 60 mutation genes are found to be related with familial DCM, the investigation of which will contribute to further revealing the pathogenesis of DCM.