Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

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概要

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• Background: The genetic background of catecholaminergic polymorphic ventricular tachycardia (CPVT) has been extensively investigated for the last decade in Western countries, but it remains unstudied in the Asian population. Methods and Results: In 50 Japanese probands from unrelated families who satisfied clinical criteria for CPVT, genetic testing was conducted in all exons on 3 CPVT-related genes: cardiac ryanodine receptor 2 (RYR2), calsequestrin 2 (CASQ2) and inward rectifier potassium channel 2 (KCNJ2), and the clinical features between RYR2-genotyped and -non-genotyped patient groups were compared. Genetic and clinical evaluation was also done in 46 family members. In the genetic screening, 28 (18 novel) RYR2 (56.0%), 1 compound heterozygous CASQ2 (2.0%) and 1 KCNJ2 (2.0%) mutation carriers were identified. In the RYR2 mutation-positive group, the frequency of bidirectional ventricular tachycardia and the use of β-blockers were significantly higher than in the mutation-negative group. In contrast, there was no significant difference in supraventricular arrhythmias between the 2 groups. With regard to disease penetrance, the number of family members of RYR2-genotyped probands with a clinical diagnosis of CPVT was high. Conclusions: Thirty gene mutation carriers were found for 3 genes in 50 probands clinically diagnosed as having CPVT. The penetrance of CPVT phenotype was significantly higher in RYR2 mutation carriers, thus RYR2 gene screening in CPVT patients would be indispensable to prevent unexpected cardiac sudden death of young family members.

著者

• Yoshinaga Masao

  Department of Pediatrics, National Hospital Organization Kagoshima Medical Center

• Ushinohama Hiroya

  Department Of Cardiology Fukuoka Childrens Hospital

• Murakoshi Nobuyuki

  Cardiovascular division, Graduate School of Comprehensive Human Sciences, University of Tsukuba

• Nagaoka Iori

  Department Of Cardiology Shiga University Of Medical Science

• Aonuma Kazutaka

  Cardiology Department Of Internal Medicine University Of Tsukuba Graduate School Of Comprehensive Hu

• Murakoshi Nobuyuki

  Cardiology Department Of Internal Medicine University Of Tsukuba Graduate School Of Comprehensive Hu

• Yoshinaga Masao

  Department Of Pediatrics Faculty Of Medicine Kagoshima University

• Makiyama Takeru

  Department Of Cardiology Hyogo Prefectural Amagasaki Hospital

• Kawamura Mihoko

  Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science

• Horie Minoru

  Department Of Cardiac Physiology National Cardiovascular Center Research Institute

• Mizusawa Yuka

  Department Of Cardiology Tokyo Metropolitan Hiroo General Hospital

• Naiki Nobu

  Department Of Cardiology Nagahama City Hospital

• Wang Qi

  Department Of Agricultural And Biological Engineering University Of Illinois At Urbana-champaign

• Kimura Hiromi

  Department Of Anesthesiology Kansai Medical University

• Itoh Hideki

  Department Of Anesthesiology And Critical Care Medicine Yokohama City University Graduate School Of

• Miyamoto Akashi

  Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science

• Horigome Hitoshi

  Department Of Child Health Graduate School Of Comprehensive Human Sciences University Of Tsukuba

• Ito Makoto

  Department Of Bioscience And Biotechnology Graduate School Of Bioresource And Bioenvironmental Scien

• Oyama Kotaro

  Department Of Pediatric Cardiology Iwate Medical University Memorial Heart Center

• Ohno Seiko

  Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science

• HONDA Takafumi

  Department of Pediatrics and Pediatric Intensive Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center

• Ito Makoto

  Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

• SUMITOMO Naokata

  Department of Pediateics and Child Health, Nihon University School of Medicine

• Ushinohama Hiroya

  Department of Pediatric Cardiology, Fukuoka Children's Hospital and Medical Center for Infectious Disease

• Horigome Hitoshi

  Department of Pediatrics, Tsukuba University Hospital

• Dochi Kenichi

  Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

• Hasegawa Kanae

  Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

• ITO Makoto

  Department of Bioresources, Faculty of Agriculture, Ehime University

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