Mutations of the Cardiac Ryanodine Recepter (<I>RyR2</I>) Gene in Catecholaminergic Polymorphic Ventricular Tachycardia

DOI 1 Citations 45 References
  • Kawamura Mihoko
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Nagaoka Iori
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Dohchi Kenichi
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Nishio Yukiko
    Department of Cardiovascular Medicine, Kyoto Univercity Graduate School of Medicine
  • Itoh Hideki
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Kimura Hiromi
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Miyamoto Akashi
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Mizusawa Yuka
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Jito Yuko
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Ishida Katsuya
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Ito Makoto
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Makiyama Takeru
    Department of Cardiovascular Medicine, Kyoto Univercity Graduate School of Medicine
  • Ohno Seiko
    Department of Cardiovascular Medicine, Kyoto Univercity Graduate School of Medicine
  • Sumitomo Naokata
    Department of Pediatric and Child Health, Nihon University School of Medicine
  • Oyama Kotaro
    Department of Pediatric Cardiology, Iwate Medical University Memorial Heart Center
  • Horie Minoru
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

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Other Title
  • カテコラミン誘発性多形性心室頻拍を疑う患者における遺伝子変異の検討―心筋リアノジン受容体について―
  • ―心筋リアノジン受容体について―

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In 20cases with clinically-diagnosed catecholaminergic polymorphic ventricular tachycardia (CPVT) from 12 unrelated Japanese families, we conducted genetic testing on RyR2, a gene encoding the cardiac ryanodine receptor. The correlation between RyR2−mutations and clinical phenotypes was investigated. The RyR2 mutations were found in 9 cases from the 20 probands (incidence : 45.0%) and in 3 from the 12 family members manifesting CPVT (incidence : 25.0%) Both bidirectional ventricular tachycardia (bVT) and atrial arrhythmias were significantly more frequent in RyR2-positive compared to RyR2-negative CPVT patients. The findings suggested that RyR2 mutations are closely related with bVT and atrial arrhythmias of early onset.

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