Short QT syndrome

Abstract

Short QT syndrome is an inherited cardiac disease characterized by ventricular tachyarrhythmias leading to sudden death. It is considered the most lethal arrhythmia, responsible of sudden death mainly in infant and young people. Current clinical guidelines define that only QTc values below 330 ms in electrocardiogram should be considered diagnostic. Nonetheless, the precise clinical values that define the diagnosis remain controversial. Recent advances in biomedicine have revealed the main pathophysiologic mechanism responsible of this lethal arrhythmia, helping to clinical diagnosis, risk stratification and prevention of syncope. Despite pharmacological treatment is available, implantation of an Implantable Cardiac Defibrillator is the most effective measure. Focusing on genetic origin, only 6 genes have been associated with the disease so far. A comprehensive genetic analysis identifies the genetic alteration responsible of the disease in 60% of clinically diagnosed cases, remaining 40% of families without a conclusive genetic cause identified. We review the main clinical hallmarks of the disease, risk stratification, current therapeutic measures and genetic basis of the disease.