心脏α肌动蛋白1基因突变致家族性扩张型心肌病1例  

A case report of familial dilated cardiomyopathy caused by cardiacα-actin 1 gene mutation

作　　者：褚国洁 张新宇 陈韵儒 桓娜 王承龙[1] Chu Guojie;Zhang Xinyu;Chen Yunru;Huan Na;Wang Chenglong(Department of Cardiovascular,Xiyuan Hospital of China Academy of Chinese Medical Sciences,Beijing 100091,China)

机构地区：[1]中国中医科学院西苑医院心血管内科,北京100091

出　　处：《中国医药》2025年第3期436-438,共3页China Medicine

基　　金：国家自然科学基金(81874410)。

摘　　要：本文探讨1例扩张型心肌病患者及家系的致病基因及突变位点。询问患者病史,完善心电图、超声心动图、心脏磁共振成像等检查,采用高通量测序检测技术对先证者及父亲、祖父进行全外显子组测序。结果显示先证者心脏α肌动蛋白1基因c.166G>A突变,同时其父亲、祖父均存在相同的变异位点,为家族性扩张型心肌病。The aim of this study is to explore the pathogenic gene and mutation site of a patient with dilated cardiomyopathy and his family.The patient′s medical history was collected,and electrocardiogram,echocardiography,and cardiac magnetic resonance imaging were performed.The whole exome sequencing of the proband,his father and grandfather was performed by high-throughput sequencing technology.The results showed that the proband had c.166G>A mutation in the cardiac α-actin 1 gene,and his father and grandfather had the same mutation site,which was diagnosed as familial dilated cardiomyopathy.

关 键 词：家族性扩张型心肌病 心脏α肌动蛋白1基因 突变 

分 类 号：R54[医药卫生—心血管疾病]