Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

• Kawamura Mihoko

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

• Ohno Seiko

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

• Naiki Nobu

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

• Nagaoka Iori

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

• Dochi Kenichi

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

• Wang Qi

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

• Hasegawa Kanae

  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

• Itoh Hideki

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

• Makiyama Takeru

  Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine

• Sumitomo Naokata

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

• Ushinohama Hiroya

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

• Oyama Kotaro

  Department of Pediatric Cardiology, Iwate Medical University Memorial Heart Center

• Murakoshi Nobuyuki

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

• Aonuma Kazutaka

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

• Horigome Hitoshi

  Department of Pediatrics, Tsukuba University Hospital

• Honda Takafumi

  Department of Pediatrics, Tokyo Women’s Medical University Yachiyo Medical Center

• Yoshinaga Masao

  Department of Pediatrics, National Hospital Organization Kagoshima Medical Center

• Ito Makoto

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

• Horie Minoru

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

抄録

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.  (Circ J 2013; 77: 1705–1713)<br>

収録刊行物

• Circulation Journal

  Circulation Journal 77 (7), 1705-1713, 2013

  一般社団法人 日本循環器学会

キーワード

• Beta-blockers
• Calsequestrin
• Catecholaminergic polymorphic ventricular tachycardia
• Flecainide
• Ryanodine receptor

詳細情報

• CRID: 1390282680080162688
• NII論文ID: 10031173750
• NII書誌ID: AA11591968
• DOI: 10.1253/circj.cj-12-1460
• COI: 1:CAS:528:DC%2BC3sXht1Clur%2FM
• ISSN: 13474820
• ISSN: 13469843
• ISSN: http://id.crossref.org/issn/13469843
• PubMed: 23595086
• Web Site: https://www.jstage.jst.go.jp/article/circj/77/7/77_CJ-12-1460/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2014215822
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可