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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

Authors :
Taishi Fujisawa
Yoshiyasu Aizawa
Yoshinori Katsumata
Akihiro Udo
Shogo Ito
Kazumasa Hatakeyama
Makoto Hirose
Hiroshi Miyama
Kazuaki Nakajima
Takahiko Nishiyama
Takehiro Kimura
Masamitsu Nitta
Kazuo Misumi
Seiji Takatsuki
Kenjiro Kosaki
Keiichi Fukuda
Source :
Case Reports in Genetics, Vol 2019 (2019)
Publication Year :
2019
Publisher :
Hindawi Limited, 2019.

Abstract

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.

Subjects

Subjects :
Genetics
QH426-470

Details

Language :
English
ISSN :
20906544 and 20906552
Volume :
2019
Database :
Directory of Open Access Journals
Journal :
Case Reports in Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.7ecb9c78406480d47940196a37ec
Document Type :
article
Full Text :
https://doi.org/10.1155/2019/9056596