Open AccessA Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia
Author(s) -
Taishi Fujisawa,
Yoshifusa Aizawa,
Yoshinori Katsumata,
Akihiro Udo,
Shogo Ito,
Kazumasa Hatakeyama,
Masao Hirose,
Hiroshi Miyama,
Kiyokazu Nakajima,
Takahiko Nishiyama,
Tohru Kimura,
Masamitsu Nakazato,
Kazuo Misumi,
Seiji Takatsuki,
Kenjiro Kosaki,
Keiichi Fukuda
Publication year - 2019
Publication title -
case reports in genetics
Language(s) - English
Resource type - Journals
eISSN - 2090-6544
pISSN - 2090-6552
DOI - 10.1155/2019/9056596
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , medicine , ventricular tachycardia , ryanodine receptor 2 , cardiology , family history , sudden death , catecholaminergic , tachycardia , pediatrics , ryanodine receptor , catecholamine , calcium
A 62-year-old female had suffered from recurrent syncopal episodes triggered by physical and emotional stress since childhood. She had no family history of sudden death. An intensive examination could not detect any structural disease, and exercise stress testing provoked polymorphic ventricular ectopy followed by polymorphic ventricular tachycardia accompanied with syncope leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). A genetic analysis with a next generation sequencer identified a homozygous W361X mutation in the CASQ2 gene. Careful history taking disclosed that her parents had a consanguineous marriage. Here we present a Japanese patient with a recessive form of CPVT.