SCN5A基因突变致家族性多源希浦系综合征一例  

SCN5A Gene Mutation Associated Familial Multifocal Ectopic Purkinje-related Premature Contractions Syndrome:a Case Report

作　　者：吕顺 焦鸿瑞 王小艳[1] 庄敏 牛惠萍 LYU Shun;JIAO Hongrui;WANG Xiaoyan;ZHUANG Min;NIU Huiping(Department of Ultrasound Medicine,Heping Hospital Affiliated to Changzhi Medical College,Changzhi 046000,China;Department of Ultrasound,Changzhi Second People's Hospital,Changzhi 046000,China;Department of Ultrasound,Qujing First People's Hospital,Qujing 655099,China)

机构地区：[1]长治医学院附属和平医院超声医学科,长治046000 [2]长治市第二人民医院超声科,长治046000 [3]曲靖市第一人民医院超声科,曲靖655099

出　　处：《中国循环杂志》2023年第5期568-572,共5页Chinese Circulation Journal

基　　金：山西省研究生教育改革研究课题(2020YJJG262)。

摘　　要：多源希浦系综合征,即MEPPC综合征,是一种心脏钠离子通道病。该综合征是由SCN5A基因突变所致,其临床主要表现为室性心律失常(室性早搏和阵发性室性心动过速)和扩张型心肌病。目前,国内外关于该综合征的报道很少。本文报道一例具有家族性发病特征的MEPPC综合征,通过分析该患者临床表现、心电图、超声心动图和基因检测结果,提高临床医师对该综合征的认识,为进一步治疗提供参考。Multifocal ectopic Purkinje-related premature contractions(MEPPC)syndrome is a kind of cardiac sodium channel disease.SCN5A gene mutations have been linked to the syndrome characterized by ventricular arrhythmias(premature ventricular contractions and paroxysmal ventricular tachycardia)and dilated cardiomyopathy.At present,there are few reports about the syndrome.This case report presents the patient’s clinical manifestations,electrocardiogram,echocardiogram and genetic test results,aiming to improve clinicians'understanding of this syndrome and provide reference for further treatment.

关 键 词：SCN5A基因 多源希浦系综合征 MEPPC综合征 心律失常 

分 类 号：R541.4[医药卫生—心血管疾病]