McPate Mark J, Witchel Harry J, Hancox Jules C
Department of Physiology and Cardiovascular Research Laboratories, School of Medical Sciences, University Walk, Bristol BS81TD, UK.
Future Cardiol. 2006 May;2(3):293-301. doi: 10.2217/14796678.2.3.293.
The idiopathic short QT syndrome (SQTS) is a recently identified condition characterized by abbreviated QT intervals (typically 300 ms or less) and in affected families is associated with an increased incidence of atrial and ventricular arrhythmias and sudden cardiac death. Genetic analysis has, to date, identified three distinct forms of the condition, involving gain-of-function mutations to three different cardiac potassium channel genes: KCNH2 (SQT1), KCNQ1 (SQT2) and KCNJ2 (SQT3). This article reviews recent advances in understanding this syndrome, discussing the basis of QT interval shortening, possible mechanisms for the associated arrhythmogenic risk in SQT1, current approaches to treatment of the SQTS (focusing on SQT1) and avenues for future investigation.
特发性短QT综合征（SQTS）是一种最近才被确认的病症，其特征为QT间期缩短（通常为300毫秒或更短），在受影响的家族中，心房和心室心律失常以及心源性猝死的发生率增加。迄今为止，基因分析已确定该病症有三种不同形式，涉及三个不同心脏钾通道基因的功能获得性突变：KCNH2（SQT1）、KCNQ1（SQT2）和KCNJ2（SQT3）。本文综述了在理解该综合征方面的最新进展，讨论了QT间期缩短的基础、SQT1中相关致心律失常风险的可能机制、目前治疗SQTS的方法（重点是SQT1）以及未来的研究方向。
