致心律失常性右室心肌病研究进展  

Research on Arrhythmogenic Right Ventricular Cardiomyopathy

作　　者：房清丽[1] 李自青[1,2] 闫玉清 高晔 邢雁霞[1,2] 张年萍[1,3] 韩飞宇 FANG Qing-li;LI Zi-qing;YAN Yu-qing;GAO Ye;XING Yan-xia;ZHANG Nian-ping;HAN Fei-yu(School of Medicine, Shanxi Datong University, Datong Shanxi, 037009;Institute of Respiratory and Occupational Disease, Shanxi Datong University, Datong Shanxi, 037009;Institute of Cardiovascular Diseases of Integrated Traditional Chinese and Western Medicine, Shanxi Datong University, Datong Shanxi,037009;Shanxi Weiqida Guangming Pharmaceutical Co., Ltd.Datong Shanxi, 037301)

机构地区：[1]山西大同大学医学院,山西大同037009 [2]山西大同大学呼吸病与职业病研究所,山西大同037009 [3]山西大同大学中西医结合心血管病研究所,山西大同037009 [4]山西威奇达光明制药有限公司,山西大同037301

出　　处：《山西大同大学学报（自然科学版）》2019年第5期44-48,共5页Journal of Shanxi Datong University(Natural Science Edition)

基　　金：分子发育生物学国家重点实验室2017年开放课题[2018-MDB-KF-07];大同市应用基础研究计划项目[2017134];山西大同大学博士科研启动费资助项目[2016-B-01];山西大同大学校级重点建设学科内科学资助项目[100201];山西省科技厅国际合作项目[201803D421073];山西省科技厅社发项目[201803D31079]

摘　　要：致心律失常性右室心肌病(ARVC)是一种原发性心肌病,该病表现为家族遗传现象。目前,编码桥粒蛋白和非桥粒蛋白的基因突变被认为是ARVC的主要致病机制,这些疾病相关基因的致病机制一直是研究探索的重点。然而,仍有近一半患者未携带已知的致病基因突变,基因突变没有被系统的研究而不能列入诊断标准,使目前临床诊断只局限于病理解剖和患者临床表现,因此造成许多隐匿型患者出现漏诊从而引发严重心律失常导致猝死,尤其是年轻人群中运动员的猝死。因此检测ARVC致病基因的突变,进一步揭示ARVC的致病机制,对ARVC的临床诊断和治疗都具有重要的意义。本综述旨在总结与探讨ARVC的分子疾病机制,包括疾病临床诊断、相关基因、致病机制等。Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary cardiomyopathy characterized by family genetic phenomenon. At present, gene mutations encoding desmoglein and non- desmomentin are considered to be the main pathogenic mechanisms of ARVC, and the pathogenesis of these disease-related genes has always been the focus of research and exploration. However, nearly half of the patients still do not carry the known disease-causing gene mutations. The gene mutations have not been systematically studied and cannot be included in the diagnostic criteria, so that the current clinical diagnosis is limited to pathological anatomy and clinical manifestations, thus causing many hidden patients. Missed diagnosis caused severe arrhythmia, leading to sudden death, especially among young people. Therefore, the detection of mutations in ARVC pathogenic gene further revealed the pathogenic mechanisms of ARVC, which was of great significance to the clinical diagnosis and treatment of ARVC. This paper aims to summarize and discuss the molecular disease mechanism of ARVC, including clinical diagnosis, related genes, pathogenic mechanism and so on.

关 键 词：致心律失常性右室心肌病 桥粒和非桥粒基因 基因突变 致病机制 

分 类 号：R542.2[医药卫生—心血管疾病]