title: A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia.
abstract: Sudden cardiac death (SCD) in athletes <35 years of age are mostly due to congenital or acquired cardiac malformations or hypertrophic cardiomyopathy. However, ion channelopathies such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long-QT syndromes, which are less frequently observed, are also potential pathogenesis of SCD in young athletes. CPVT is an inherited arrhythmia that is induced by physical or emotional stress and may lead to ventricular fibrillation syncope or SCD. Here, we report a case of athlete woman with adult-onset CPVT and aborted SCD who has a novel missense mutation (K4392R) in the cardiac RyR2 gene.
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan. junko_k1981@yahoo.co.jp.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan. junko_k1981@yahoo.co.jp.
authors.forename: Junko
authors.initials: J
authors.lastname: Arakawa
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hamabe
authors.affiliation: Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Aiba
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Tomoo
authors.initials: T
authors.lastname: Nagai
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Mikoto
authors.initials: M
authors.lastname: Yoshida
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Touya
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Ishigami
authors.affiliation: Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Hisadome
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Shuichi
authors.initials: S
authors.lastname: Katsushika
authors.affiliation: Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan.|Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan.
authors.forename: Hirotsugu
authors.initials: H
authors.lastname: Tabata
authors.affiliation: Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Miyamoto
authors.affiliation: Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan.|Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D056352:Athletes; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: Cardiac ryanodine receptor; Catecholaminergic polymorphic ventricular tachycardia; Sudden cardiac death
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