日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

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
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 37(2): 144-150 (2021)
doi:10.9794/jspccs.37.144

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
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カテコラミン誘発多形性心室頻拍(CPVT)は,若年期に失神,心停止を起こす致死性遺伝性不整脈の一つであり,10年生存率が60%程度と予後の悪い疾患である.患者の50~60%に心筋リアノジン受容体遺伝子(RYR2)変異が認められるが,多くが弧発例で国内の家族内発症は非常に少ない.今回,34歳女性を発端者とする,若年での複数の家族内突然死歴のあるCPVTの一家系を報告する.遺伝子検査を施行し,発端者とその妹2人,息子,姪にRYR2の新規の病的バリアント(F4087L)を認めた.発端者とその妹らはβ遮断薬やフレカイニドの内服と植込み型除細動器(ICD)を植込み,ICDにより心室細動は停止している.また,β遮断薬にフレカイニド内服を追加し,不整脈を抑制できている児もいる.早期の診断により,患者のみならず幼児を含む無症状患者にも,突然死の一次予防としての治療や医療介入が可能と考える.

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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This page was last modified on 2021-08-03T20:14:50.000+09:00


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