标题：遗传性心率失常的最新治疗进展

      作者：蒋礼祥 综述 邓文文，谷宁，石蓓 审校    遵义医科大学附属医院心血管内科，贵州 遵义 563000

      卷次： 2021年32卷3期

      【摘要】 遗传性心率失常主要包括长QT综合征、短QT综合征、儿茶酚胺能性多形性室性心动过速和Brugada综合征。这些罕见的疾病通常是年轻人猝死的主要原因，他们主要是由编码离子通道的基因或编码参与其调控蛋白的基因突变引起的。遗传缺陷导致心脏动作电位期间离子电流发生改变，患有这些疾病的个体经常出现晕厥或危及生命的心律失常发作。该类疾病的诊断目前主要基于临床表现、病史、心电图特征以及遗传学分析。治疗主要包括药物治疗及外科手术干预。本文将简述该类疾病的发病机制及诊断方法，重点讲述该类疾病的治疗方法和最新治疗进展。
      【关键词】 遗传性；心率失常；基因突变；心脏疾病；治疗进展
      【中图分类号】 R541.7 【文献标识码】 A 【文章编号】 1003—6350（2021）03—0349—05

Recent advances in inherited cardiac arrhythmias.
JIANG Li-Xiang, DENG Wen-Wen, GU Ning, SHI Bei. Departmentof Cardiology, the Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, CHINA【Abstract】 The main inherited cardiac arrhythmias are long QT syndrome (LQTS), short QT syndrome (SQTS),catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. These rare diseases are often the under-lying cause of sudden cardiac death in young individuals and result from mutations in several genes encoding ion chan-nels or proteins involved in their regulation. The genetic defects lead to alterations in the ionic currents that determinethe morphology and duration of the cardiac action potential, and individuals with these disorders often present with syn-cope or a life-threatening arrhythmic episode. The diagnosis is based on clinical presentation and history, electrocardio-gram (ECG) characteristics and genetic analyses. Management relies on pharmacological therapy or surgical interven-tions. This article will briefly describe the pathogenesis and diagnosis methods of this type of disease, focusing on thetreatment methods and the latest treatment progress of this type of disease.
      【Key words】 Heredity; Arrhythmia; Gene mutation; Heart disease; Treatment progress·综述·doi:10.3969/j.issn.1003-6350.2021.03.022基金项目：国家自然科学基金(编号：81860063)；贵州省科技合作计划项目(编号：黔科合LH字【2015】7512号)