long QT syndrome 3
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.
MONDO:0019171
familial long QT syndrome
is_a
MONDO:1010181
SCN5A-related cardiac rhythm disorder
is_a
LQT3
exact
SCN5A long QT syndrome
exact
long QT syndrome 3
exact
long QT syndrome caused by mutation in SCN5A
exact
long QT syndrome type 3
exact