长QT综合征合并多基因突变1例

Long QT Syndrome with Multiple Gene Mutations: A Case Report

长QT综合征(long QT syndrome, LQTS)是一种常见的心律失常综合征,根据有无外部因素,可分为先天性和获得性,是以心电图QT间期延长,尖端扭转性室性心动过速,晕厥和猝死为主要临床特征的致命性心脏疾病。LQTS致死率高,早期识别及有效的治疗可减少恶性心律失常及猝死的发生。本文介绍1例多基因突变的LQTS,结合文献对其定义、诊断及治疗进行讨论。

Long QT syndrome (LQTS) is a common arrhythmia syndrome, which can be divided into congenital and acquired syndromes according to the presence of external factors. It is a fatal heart disease characterized by prolonged QT interval on electrocardiogram, tip torsion ventricular tachycardia, syncope and sudden death. LQTS has a high fatality rate, early recognition and effective treatment can reduce the incidence of malignant arrhythmia and sudden death. This paper reports a case of LQTS with multiple gene mutations, and discusses its definition, diagnosis and treatment based on the literature.