A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia
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 ect...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/9056596 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Taishi Fujisawa |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ddcd7ecb9c78406480d47940196a37ec |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-ddcd7ecb9c78406480d47940196a37ec2025-02-03T05:57:41ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/90565969056596A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular TachycardiaTaishi Fujisawa0Yoshiyasu Aizawa1Yoshinori Katsumata2Akihiro Udo3Shogo Ito4Kazumasa Hatakeyama5Makoto Hirose6Hiroshi Miyama7Kazuaki Nakajima8Takahiko Nishiyama9Takehiro Kimura10Masamitsu Nitta11Kazuo Misumi12Seiji Takatsuki13Kenjiro Kosaki14Keiichi Fukuda15Department of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Chiba Nishi General Hospital, Chiba, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Chiba Nishi General Hospital, Chiba, JapanDepartment of Cardiology, Chiba Nishi General Hospital, Chiba, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Chiba Nishi General Hospital, Chiba, JapanDepartment of Cardiology, Chiba Nishi General Hospital, Chiba, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanCenter for Medical Genetics, Keio University School of Medicine, Tokyo, JapanDepartment of Cardiology, Keio University School of Medicine, Tokyo, JapanA 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.http://dx.doi.org/10.1155/2019/9056596 |
| spellingShingle | 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 A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia Case Reports in Genetics |
| title | A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia |
| title_full | A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia |
| title_fullStr | A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia |
| title_full_unstemmed | A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia |
| title_short | A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia |
| title_sort | homozygous casq2 mutation in a japanese patient with catecholaminergic polymorphic ventricular tachycardia |
| url | http://dx.doi.org/10.1155/2019/9056596 |
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