Short QT syndrome

Abstract

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.