A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. (8th January 2019)

• Record Type: Journal Article
• Authors: Fujisawa, Taishi; Aizawa, Yoshiyasu; Katsumata, Yoshinori; Udo, Akihiro; Ito, Shogo; Hatakeyama, Kazumasa; Hirose, Makoto; Miyama, Hiroshi; Nakajima, Kazuaki; Nishiyama, Takahiko; Kimura, Takehiro; Nitta, Masamitsu; Misumi, Kazuo; Takatsuki, Seiji; Kosaki, Kenjiro; Fukuda, Keiichi
• Other Names: Yapijakis Christos Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2019(2019)
• Publication Date: 2019-01-08
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2019/9056596
• Languages: English
• ISSNs: 2090-6544

Abstract

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.