caa a22 4500 60622078X CHVBK 20210128101125.0 cr unu---uuuuu 210128e20151101xx s 000 0 eng 10.1007/s00380-014-0555-y doi (NATIONALLICENCE)springer-10.1007/s00380-014-0555-y 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 [Elektronische Daten] [Junko Arakawa, Akira Hamabe, Takeshi Aiba, Tomoo Nagai, Mikoto Yoshida, Takumi Touya, Norio Ishigami, Hideki Hisadome, Shuichi Katsushika, Hirotsugu Tabata, Yoshihiro Miyamoto, Wataru Shimizu] Abstract : Sudden cardiac death (SCD) in athletes <35years 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. Springer Japan, 2014 Sudden cardiac death nationallicence Catecholaminergic polymorphic ventricular tachycardia nationallicence Cardiac ryanodine receptor nationallicence Arakawa Junko Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Hamabe Akira Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Aiba Takeshi Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan aut Nagai Tomoo Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Yoshida Mikoto Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Touya Takumi Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Ishigami Norio Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Hisadome Hideki Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan aut Katsushika Shuichi Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Tabata Hirotsugu Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut Miyamoto Yoshihiro Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan aut Shimizu Wataru Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan aut Heart and Vessels Springer Japan 30/6(2015-11-01), 835-840 0910-8327 30:6<835 2015 30 380 https://doi.org/10.1007/s00380-014-0555-y text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00380-014-0555-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Arakawa Junko Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Hamabe Akira Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Aiba Takeshi Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan aut NATIONALLICENCE 700 1- Nagai Tomoo Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Yoshida Mikoto Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Touya Takumi Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Ishigami Norio Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Hisadome Hideki Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan aut NATIONALLICENCE 700 1- Katsushika Shuichi Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Tabata Hirotsugu Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, 154-8532, Tokyo, Japan aut NATIONALLICENCE 700 1- Miyamoto Yoshihiro Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan aut NATIONALLICENCE 700 1- Shimizu Wataru Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan aut NATIONALLICENCE 773 0- Heart and Vessels Springer Japan 30/6(2015-11-01), 835-840 0910-8327 30:6<835 2015 30 380