/long QT syndrome 3

long QT syndrome 3

Rare Disease

MONDO:0011377

Also Known As

LQT3SCN5A long QT syndromelong QT syndrome 3long QT syndrome caused by mutation in SCN5Along QT syndrome type 3long QT syndrome 2/3, digeniclong QT syndrome 3, acquired, susceptibility tolong QT syndrome 3/6, digenic

Definition

An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.