Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 37(2): 144-150 (2021)

症例報告Case Report

複数の突然死を有するカテコラミン誘発多形性心室頻拍の一家系A Large Family Report of Catecholaminergic Polymorphic Ventricular Tachycardia with Sudden Cardiac Death

1船橋市立医療センター小児科Department of Pediatrics, Funabashi Municipal Medical Center ◇ Chiba, Japan

2君津中央病院小児科Department of Pediatrics, Kimitsu Chuo Hospital ◇ Chiba, Japan

3国立循環器病研究センター不整脈科・臨床検査部Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center ◇ Osaka, Japan

受付日:2020年7月2日Received: July 2, 2020
受理日:2021年3月7日Accepted: March 7, 2021
発行日:2021年8月1日Published: August 1, 2021


Catecholaminergic polymorphic ventricular tachycardia (CPVT), one of the inherited fatal arrhythmic syndromes, is usually diagnosed as bi-directional ventricular tachycardia during exercise. CPVT often causes faintness and/or cardiac arrest in younger adults resulting in a poor prognosis, with 60% ten-year survival. Although 50–60% of CPVT is caused by the mutation in the cardiac ryanodine receptor gene (RYR2), most are sporadic and familial cases are rare. Here we report familial CPVT cases of a 34-year-old woman (proband) and her two sisters. All of them had been implanted with a cardioverter defibrillator (ICD) due to syncope or resuscitated after ventricular fibrillation (VF). Additionally, five of her family members died in their thirties. The genetic study identified a novel pathogenic variant, F4087L, in the RYR2 gene in the proband, her sisters, and proband’s son and niece. Even after ICD implantation, defibrillator shocks were needed to cope with VF in the proband and her sisters. However, additional pharmacological therapies such as beta-blockers, flecainide, and Ca channel blockers could suppress the recurrence of syncope or VF in all patients. These findings suggest that early clinical and genetic diagnosis for CPVT may provide appropriate pharmacological and non-pharmacological therapies to patients and their asymptomatic family members, including infants, for primary prevention of sudden death.

Key words: catecholaminergic polymorphic ventricular tachycardia; ryanodine receptor gene; implantable cardioverter defibrillator; familial; Flecainide

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