Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations

被引：7

作者：

Saito, Aki ^{[1
]}

Ohno, Seiko ^{[2
]}

Nuruki, Norihito ^{[3
]}

Nomura, Yuichi ^{[4
]}

Horie, Minoru ^{[2
]}

Yoshinaga, Masao ^{[1
]}

机构：

[1] Natl Hosp Org, Kagoshima Med Ctr, Dept Pediat, Kagoshima, Japan

[2] Shiga Univ Med Sci, Dept Cardiovasc & Resp Med, Otsu, Shiga, Japan

[3] Natl Hosp Org, Kagoshima Med Ctr, Dept Cardiovasc Med, Kagoshima, Japan

[4] Kagoshima City Hosp, Dept Pediat, Kagoshima, Japan

来源：

JOURNAL OF ARRHYTHMIA | 2018年 / 34卷 / 03期

关键词：

catecholaminergic polymorphic ventricular tachycardia; long QT syndrome; next-generation sequencing; RyR2; sudden arrhythmic death;

D O I：

10.1002/joa3.12053

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：291 / 293

页数：3

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