小児期に発症し重篤な左心不全症状を呈した不整脈原性右室心筋症の一例

森 浩輝; 清水 美妃子; 豊原 啓子; 稲井 慶; 島田 光代; 古谷 喜幸; 吉澤 佐恵子; 宇都 健太; 西川 俊朗; 池田 健太郎; 中西 敏雄

doi:10.9794/jspccs.32.171

Case Reports

A Pediatric Case of Arrhythmogenic Right Ventricular Cardiomyopathy

Hiroki Mori, Mikiko Shimizu, Keiko Toyohara, Kei Inai, Mitsuyo Shimada, Yoshiyuki Furutani, Saeko Yoshizawa, Kenta Uto, Toshio Nishikawa, Kentaro Ikeda, Toshio Nakanishi

Author information

Hiroki Mori
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Mikiko Shimizu
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Keiko Toyohara
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Kei Inai
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Mitsuyo Shimada
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Yoshiyuki Furutani
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology
Saeko Yoshizawa
Tokyo Women’s Medical University Hospital, Department of Pathology
Kenta Uto
Tokyo Women’s Medical University Hospital, Department of Pathology
Toshio Nishikawa
Tokyo Women’s Medical University Hospital
Kentaro Ikeda
Gunma Children’s Medical Center, Department of Cardiology
Toshio Nakanishi
Tokyo Women’s Medical University Hospital, Department of Pediatric Cardiology

Keywords: arrhythmogenic right ventricular cardiomyopathy, heart failure, cardiac transplantation

JOURNAL OPEN ACCESS

2016 Volume 32 Issue 2 Pages 171-178

DOI https://doi.org/10.9794/jspccs.32.171

Details

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cause of heart failure in the young. We report a pediatric case of ARVC with severe heart failure. The patient was a 9-year-old boy who was noted to have paroxysmal ventricular contractions at his regular school electrocardiogram check-up. Cardiac magnetic resonance imaging showed severe biventricular enlargement and dysfunction. He underwent orthotopic heart transplantation at 10 years of age. Genetic testing revealed two mutations related to ARVC. He had a nonsynonymous single-nucleotide polymorphism in desmoglein 2 (DSG2; c.1481 A＞C: p.Asp494Ala) and transmembrane 43 (TMEM43; c.601G＞A: p.Asp201Asn). Coexistence of these mutations may lead to severe ARVC in the young patient.

Corresponding author

Register with J-STAGE for free!