/long QT syndrome 2

long QT syndrome 2

Rare Disease

MONDO:0013367

Also Known As

LQT2Long QT syndrome, acquired, reduced susceptibility tolong QT syndrome 2long QT syndrome type 2long QT syndrome 1/2, digeniclong QT syndrome 2, acquired, susceptibility tolong QT syndrome 2/3, digeniclong QT syndrome 2/5, digeniclong QT syndrome 2/9, digenic

Definition

An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.