致心律失常性右室心肌病致病基因突变、诊断及治疗研究新进展  

New Advances in the Research of Pathogenic Gene Mutation, Diagnosis and Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy

作　　者：柴俊武 延沁儒 徐静雅 杨承营 曾迪 

机构地区：[1]空军军医大学基础医学院一大队一队,陕西 西安 [2]空军军医大学第二附属医院心血管内科,陕西 西安 [3]淄博市中心医院,山东 淄博

出　　处：《临床医学进展》2021年第7期3168-3175,共8页Advances in Clinical Medicine

摘　　要：致心律失常性右心室心肌病/发育不良(Arrhythmogenic Right Ventricular cardiomyopathy/dysplasia, ARVC/D)是一种以室性心律失常以及右、左心室功能障碍为特征的遗传性疾病;心肌细胞的纤维–脂肪替代;由于异质性的临床表现、家族内和家族间的表达高度可变以及不完全外显,其识别往往具有挑战性。本文通过对ARVC/D的致病基因突变、诊断进展及治疗进行综述,以通过基因突变检测筛选识别处于临床前阶段的患者,提高ARVC/D高危人群的早期诊断,为临床治疗提供参考。Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic disease characterized by ventricular arrhythmia and right and left ventricular dysfunction;fiber-fat replacement;due to heterogeneous clinical manifestations, intra-family and inter-family expressions are highly variable and incompletely explicit, and their identification is often challenging. This article reviews the pathogenic gene mutations, diagnosis progress and treatment of ARVC/D in order to identify patients in the preclinical stage through gene mutation detection, improve the early diagnosis of ARVC/D high-risk groups, and provide references for clinical treatment.

关 键 词：致心律失常性右心室心肌病/发育不良 致病基因突变 诊断 治疗 

分 类 号：R54[医药卫生—心血管疾病]