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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

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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.

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Acknowledgments

The authors thank Naotaka Ohta, Toshiko Shibata, Hiromi Fujiyama, Miyuki Hozan and Akihiro Fujiwara for excellent technical supports. This work was supported by grants from the Ministry of Health, Labor and Welfare of Japan (2010-145); a Grant-in-Aid for Scientific Research on Innovative Areas (22136011 A02, Aiba), a Grant-in-Aid for Scientific Research (C) (24591086 Aiba) from MEXT of Japan, and a Research Grant for Cardiovascular Diseases (H24-033 Shimizu, Aiba) from the Ministry of Health, Labor and Welfare, Japan.

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Authors and Affiliations

  1. Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan

    Junko Arakawa, Akira Hamabe, Tomoo Nagai, Mikoto Yoshida, Takumi Touya, Norio Ishigami, Shuichi Katsushika & Hirotsugu Tabata

  2. Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan

    Junko Arakawa, Akira Hamabe, Tomoo Nagai, Mikoto Yoshida, Takumi Touya, Norio Ishigami, Hideki Hisadome, Shuichi Katsushika & Hirotsugu Tabata

  3. Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan

    Takeshi Aiba & Wataru Shimizu

  4. Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan

    Yoshihiro Miyamoto

  5. Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan

    Wataru Shimizu

Authors
  1. Junko Arakawa
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  2. Akira Hamabe
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  3. Takeshi Aiba
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  4. Tomoo Nagai
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  5. Mikoto Yoshida
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  8. Hideki Hisadome
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  9. Shuichi Katsushika
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  10. Hirotsugu Tabata
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  11. Yoshihiro Miyamoto
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  12. Wataru Shimizu
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Corresponding author

Correspondence to Junko Arakawa.

Additional information

J. Arakawa, A. Hamabe, T. Aiba and T. Nagai contributed equally to this work.

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Arakawa, J., Hamabe, A., Aiba, T. et al. 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. Heart Vessels 30, 835–840 (2015). https://doi.org/10.1007/s00380-014-0555-y

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  • DOI: https://doi.org/10.1007/s00380-014-0555-y

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