Open AccessThree cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations
Author(s) -
Saito Aki,
Ohno Seiko,
Nuruki Norihito,
Nomura Yuichi,
Horie Minoru,
Yoshinaga Masao
Publication year - 2018
Publication title -
journal of arrhythmia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 21
eISSN - 1883-2148
pISSN - 1880-4276
DOI - 10.1002/joa3.12053
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , medicine , ryanodine receptor 2 , qt interval , long qt syndrome , cardiology , ventricular tachycardia , short qt syndrome , mutation , sudden death , genetic testing , sudden cardiac death , tachycardia , genetics , gene , biology , ryanodine receptor , calcium
Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is one of the leading causes of sudden arrhythmic death in the young. The QT interval in CPVT patients is typically within the normal range. However, those with prolonged QT interval have often been diagnosed with mutation‐negative long QT syndrome ( LQTS ). We report three CPVT patients with prolonged QT interval. Case 1 and 2 were diagnosed as LQTS at first. Genetic test using next‐generation sequencing ( NGS ) revealed RyR2 mutations. We should consider genetic test using NGS to identify the genes responsible for CPVT in mutation‐negative LQTS .