2022 年第 5 期 第 17 卷

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1王可心1任燕龙2王月丽3高海1刘旭霞4张晓萍4李小燕4

英文作者：Zhang Yahui1， Wang Kexin1， Ren Yanlong2， Wang Yueli3， Gao Hai1， Liu Xuxia4， Zhang Xiaoping4， Li Xiaoyan4

单位：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

英文单位：1Department of Acute Coronary Syndrome Ward Center for Coronary Artery Disease Beijing Anzhen Hospital Capital Medical University Beijing 100029 China; 2Intensive Care Unit Department of Cardiology Beijing Anzhen Hospital Capital Medical University Beijing 100029 China; 3First Department of Echocardiography Beijing Anzhen Hospital Capital Medical University Beijing 100029China; 4Beijing 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

关键词：家族性扩张型心肌病；LMNA基因；基因检测

英文关键词：Familialdilatedcardiomyopathy；LMNAgene；Genetictesting

• 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.656A>C（p.Lys219Thr）, which may be related to the pathogenesis of FDCM and arrhythmia.