Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

Mihoko Kawamura; Seiko Ohno; Nobu Naiki; Iori Nagaoka; Kenichi Dochi; Qi Wang; Kanae Hasegawa; Hiromi Kimura; Akashi Miyamoto; Yuka Mizusawa; Hideki Itoh; Takeru Makiyama; Naokata Sumitomo; Hiroya Ushinohama; Kotaro Oyama; Nobuyuki Murakoshi; Kazutaka Aonuma; Hitoshi Horigome; Takafumi Honda; Masao Yoshinaga; Makoto Ito; Minoru Horie

doi:10.1253/circj.CJ-12-1460

Arrhythmia/Electrophysiology

Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

Mihoko Kawamura, Seiko Ohno, Nobu Naiki, Iori Nagaoka, Kenichi Dochi, Qi Wang, Kanae Hasegawa, Hiromi Kimura, Akashi Miyamoto, Yuka Mizusawa, Hideki Itoh, Takeru Makiyama, Naokata Sumitomo, Hiroya Ushinohama, Kotaro Oyama, Nobuyuki Murakoshi, Kazutaka Aonuma, Hitoshi Horigome, Takafumi Honda, Masao Yoshinaga, Makoto Ito, Minoru Horie

Author information

Mihoko Kawamura
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Seiko Ohno
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Nobu Naiki
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Iori Nagaoka
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Kenichi Dochi
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Qi Wang
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Kanae Hasegawa
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Hiromi Kimura
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Akashi Miyamoto
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Yuka Mizusawa
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Hideki Itoh
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Takeru Makiyama
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
Naokata Sumitomo
Department of Pediatrics and Child Health, Nihon University School of Medicine
Hiroya Ushinohama
Department of Pediatric Cardiology, Fukuoka Children’s Hospital and Medical Center for Infectious Disease
Kotaro Oyama
Department of Pediatric Cardiology, Iwate Medical University Memorial Heart Center
Nobuyuki Murakoshi
Cardiovascular Division, Graduate School of Comprehensive Human Sciences, University of Tsukuba
Kazutaka Aonuma
Cardiovascular Division, Graduate School of Comprehensive Human Sciences, University of Tsukuba
Hitoshi Horigome
Department of Pediatrics, Tsukuba University Hospital
Takafumi Honda
Department of Pediatrics, Tokyo Women’s Medical University Yachiyo Medical Center
Masao Yoshinaga
Department of Pediatrics, National Hospital Organization Kagoshima Medical Center
Makoto Ito
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Minoru Horie
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

Keywords: Beta-blockers, Calsequestrin, Catecholaminergic polymorphic ventricular tachycardia, Flecainide, Ryanodine receptor

JOURNAL FREE ACCESS

2013 Volume 77 Issue 7 Pages 1705-1713

DOI https://doi.org/10.1253/circj.CJ-12-1460

CORRIGENDUM (84-11 pp. 2124)

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Abstract

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)

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