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 40(1): 27-40 (2024)


Brugada症候群と不整脈原性右室心筋症Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy

1京都大学大学院医学研究科 循環器内科Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University ◇ Kyoto, Japan

2京都大学大学院医学研究科 社会健康医学系専攻 予防医療学分野Department of Preventive Services, School of Public Health, Kyoto University ◇ Kyoto, Japan

3京都大学大学院医学研究科 地域医療システム学講座Department of Community Medicine Supporting System, Graduate School of Medicine, Kyoto University ◇ Kyoto, Japan

発行日:2024年2月29日Published: February 29, 2024

Brugada症候群(BrS)と不整脈原性右室心筋症(ARVC)は,特異的な心電図所見と致死性不整脈を呈する遺伝性心疾患である.BrSの約15~20%にSCN5A遺伝子の機能喪失型変異が検出され,右室流出路の貫壁性活動電位勾配をもとにした再分極障害と,右室流出路心外膜側の線維化とGap結合の異常による脱分極障害がcoved型ST上昇や不整脈基質の原因となる.中年期の発症が多く,頻度は男性で8~10倍多い.この性差にはテストステロンが関与するが,女性ではエストラジオールが保護的に作用する可能性がある.ARVCは,主にデスモソーム関連遺伝子の異常により発症し,細胞間接着の不安定化とWnt/β-catenin経路の異常により心筋細胞が線維脂肪変性する.これに伴い,右側胸部誘導のε波や陰性T波が現れる.右室病変主体のARVCはrevised Task Force criteriaを用いて診断し,左室や両心室に病変を認める症例はPadua criteriaで診断する.小児のBrSやARVCは稀だが,致死性不整脈の頻度は成人より高い.小児症例のエビデンス蓄積が期待される.

Brugada syndrome (BrS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are inherited cardiac disorders with distinct electrocardiographic findings and lethal ventricular arrhythmias. BrS is primarily associated with loss-of-function SCN5A variants, which cause repolarization abnormalities such as coved-type ST elevation based on transmural action potential gradient in the right ventricular outflow tract (RVOT). Fibrosis on the epicardial side of RVOT, as well as abnormalities of the gap junction provide the arrhythmogenic substrate and cause depolarization abnormalities. BrS typically appears in middle age and is 8–10 times more common in males. Although testosterone is thought to cause male predominance, estrogen may act as a protective factor in female BrS. ARVC is predominantly induced by abnormalities in desmosome-related genes, which disrupt intercellular adhesion and the Wnt/β-catenin pathway, leading to the replacement of cardiomyocytes with fibro-fatty tissues. This abnormality causes electrocardiographic findings like ε-waves and negative T waves in the right precordial leads. ARVC with right ventricular involvement is diagnosed using revised Task Force criteria, whereas arrhythmogenic cardiomyopathy (ACM) with left ventricular or biventricular involvement is diagnosed using Padua criteria. BrS and ARVC are uncommon in children, but the frequency of lethal ventricular arrhythmias is higher than in adult patients. Additional research is required to determine risk stratification and treatment options for pediatric patients.

Key words: Brugada syndrome; arrhythmogenic right ventricular cardiomyopathy; sudden cardiac death; sex difference; pediatric patient

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