A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia
Joint Authors
Fukuda, Keiichi
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
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-01-08
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Fujisawa, Taishi& Aizawa, Yoshiyasu& Katsumata, Yoshinori& Udo, Akihiro& Ito, Shogo& Hatakeyama, Kazumasa…[et al.]. 2019. A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1136079
Modern Language Association (MLA)
Fujisawa, Taishi…[et al.]. A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Case Reports in Genetics No. 2019 (2019), pp.1-3.
https://search.emarefa.net/detail/BIM-1136079
American Medical Association (AMA)
Fujisawa, Taishi& Aizawa, Yoshiyasu& Katsumata, Yoshinori& Udo, Akihiro& Ito, Shogo& Hatakeyama, Kazumasa…[et al.]. A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1136079
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136079