家族性扩张型心肌病1例报告及其家系调查  

A case report of familial dilated cardiomyopathy and investigating genes of the family

作　　者：张亚辉 王可心 任燕龙[2] 王月丽[3] 高海[1] 刘旭霞 张晓萍 李小燕 Zhang Yahui;Wang Kexin;Ren Yanlong;Wang Yueli;Gao Hai;Liu Xuxia;Zhang Xiaoping;Li Xiaoyan(Department of Acute Coronary Syndrome Ward,Center for Coronary Artery Disease,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Intensive Care Unit,Department of Cardiology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;First Department of Echocardiography,Beijing Anzhen Hospital,Capital Medical University y Beijing 100029,China;Beijing Anzhen Hospital,Capital Medical University,Beijing Institute of Heart Lung and Blood Vessel Diseases,Key Laboratory of Remodeling-Related Cardiovascular Disease of the Ministry of Education,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院冠心病中心急诊冠脉病区,北京100029 [2]首都医科大学附属北京安贞医院心内科重症监护室,北京100029 [3]首都医科大学附属北京安贞医院超声心动图一部,北京100029 [4]首都医科大学附属北京安贞医院,北京市心肺血管疾病研究所心血管重塑相关疾病教育部重点实验室,北京100029

出　　处：《中国医药》2022年第5期754-756,共3页China Medicine

基　　金：北京市自然科学基金(7162032)。

摘　　要：家族性扩张型心肌病常见的遗传方式是常染色体显性遗传。本研究对1例先证者及其部分家系成员进行致病基因检测,发现先证者及其家系成员中的2位姐姐均携带LMNA基因c.656A>C(p.Lys219Thr)错义突变,分析其可能与家族性扩张型心肌病发病和心律失常相关。The common genetic mode of familial dilated cardiomyopathy(FDCM)is autosomal dominant inheritance.This study detected the pathogenic genes of a proband and some family members.It was found that the proband and his two sisters carried the missense mutation of LMNA gene c.656 A>C(p.Lys219 Thr),which may be related to the pathogenesis of FDCM and arrhythmia.

关 键 词：家族性扩张型心肌病 LMNA基因 基因检测 

分 类 号：R542.2[医药卫生—心血管疾病]