Saito Aki, Ohno Seiko, Nuruki Norihito, Nomura Yuichi, Horie Minoru, Yoshinaga Masao
Department of Pediatrics National Hospital Organization Kagoshima Medical Center Kagoshima Japan.
Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science Ohtsu Japan.
J Arrhythm. 2018 Apr 6;34(3):291-293. doi: 10.1002/joa3.12053. eCollection 2018 Jun.
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 mutations. We should consider genetic test using NGS to identify the genes responsible for CPVT in mutation-negative LQTS.
儿茶酚胺能多形性室性心动过速（CPVT）是年轻人心律失常性猝死的主要原因之一。CPVT患者的QT间期通常在正常范围内。然而，QT间期延长的患者常被诊断为无突变的长QT综合征（LQTS）。我们报告了3例QT间期延长的CPVT患者。病例1和病例2最初被诊断为LQTS。使用下一代测序（NGS）进行的基因检测发现了突变。对于无突变的LQTS患者，我们应考虑使用NGS进行基因检测以鉴定导致CPVT的基因。
