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
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Yoshinaga Masao
Department of Pediatrics, National Hospital Organization Kagoshima Medical Center
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Ushinohama Hiroya
Department Of Cardiology Fukuoka Childrens Hospital
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Murakoshi Nobuyuki
Cardiovascular division, Graduate School of Comprehensive Human Sciences, University of Tsukuba
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Nagaoka Iori
Department Of Cardiology Shiga University Of Medical Science
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Aonuma Kazutaka
Cardiology Department Of Internal Medicine University Of Tsukuba Graduate School Of Comprehensive Hu
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Murakoshi Nobuyuki
Cardiology Department Of Internal Medicine University Of Tsukuba Graduate School Of Comprehensive Hu
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Yoshinaga Masao
Department Of Pediatrics Faculty Of Medicine Kagoshima University
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Makiyama Takeru
Department Of Cardiology Hyogo Prefectural Amagasaki Hospital
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Kawamura Mihoko
Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science
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Horie Minoru
Department Of Cardiac Physiology National Cardiovascular Center Research Institute
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Mizusawa Yuka
Department Of Cardiology Tokyo Metropolitan Hiroo General Hospital
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Naiki Nobu
Department Of Cardiology Nagahama City Hospital
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Wang Qi
Department Of Agricultural And Biological Engineering University Of Illinois At Urbana-champaign
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Kimura Hiromi
Department Of Anesthesiology Kansai Medical University
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Itoh Hideki
Department Of Anesthesiology And Critical Care Medicine Yokohama City University Graduate School Of
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Miyamoto Akashi
Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science
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Horigome Hitoshi
Department Of Child Health Graduate School Of Comprehensive Human Sciences University Of Tsukuba
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Ito Makoto
Department Of Bioscience And Biotechnology Graduate School Of Bioresource And Bioenvironmental Scien
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Oyama Kotaro
Department Of Pediatric Cardiology Iwate Medical University Memorial Heart Center
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Ohno Seiko
Department Of Cardiovascular And Respiratory Medicine Shiga University Of Medical Science
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HONDA Takafumi
Department of Pediatrics and Pediatric Intensive Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center
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Ito Makoto
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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SUMITOMO Naokata
Department of Pediateics and Child Health, Nihon University School of Medicine
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Ushinohama Hiroya
Department of Pediatric Cardiology, Fukuoka Children's Hospital and Medical Center for Infectious Disease
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Horigome Hitoshi
Department of Pediatrics, Tsukuba University Hospital
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Dochi Kenichi
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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Hasegawa Kanae
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
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ITO Makoto
Department of Bioresources, Faculty of Agriculture, Ehime University
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