非获得性长QT综合征的表观遗传学机制

Epigenetic mechanism of non-acquired cLQTS

非获得性长QT综合征(cLQTS)是一种或可威胁生命的心律失常,其特征是心肌复极化延迟而导致的QT间期延长。现代研究证明,cLQTS的发生可增加尖端扭转型室性心动过速(TdP)-晕厥的发生率,导致感音性听力丧失,并可增加健康人群罹患癫痫及心源性猝死(SCD)的风险。因此,了解cLQTS的表观遗传学机制,对于改善本病诊断和治疗,防治cLQTS相关疾病极为必要。本病发病机制复杂,其遗传模型亦复杂多态,迄今为止发现至少有13个基因与本病的发病密切相关,其中3个主要基因(KCNQ1,KCNH2和SCN5A)约占本病发病的90%。故本文从cLQTS 3个主要基因角度深入探讨非获得性QT综合征的发病机制,以期对cLQTS及相关疾病的诊断筛查提供科学思路。

Non-acquired long QT syndrome(cLQTS) is a life-threatening arrhythmia characterized by prolonged QT interval caused by delayed myocardial repolarization. Modern studies have shown that the occurrence of cLQTS can increase the incidence of torsades de pointes ventricular tachycardia(TdP)-syncope, leading to sensorineural hearing loss, and increase the risk of epilepsy and sudden cardiac death(SCD) in healthy people.Therefore, understanding the epigenetic mechanism of cLQTS is necessary to improve the diagnosis and treatment of this disease and to prevent and treat cLQTS-related diseases. The pathogenesis of this disease is complex, and its genetic model is also complex and polymorphic. At least 13 genes have been found to be closely related to the pathogenesis of this disease. Three major genes(KCNQ1, KCNH2 and SCN5 A) account for about 90%of the disease. Therefore, this paper explores the pathogenesis of non-acquired QT syndrome from the perspective of three major related genes of cLQTS, in order to provide scientific ideas for the diagnosis and screening of cLQTS and related diseases.