Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; European Reference Network for Rare and Low Prevalence Complex Disease of the Heart (ERN GUARD-Heart).
Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Heart Rhythm. 2021 Oct;18(10):1691-1697. doi: 10.1016/j.hrthm.2021.06.1177. Epub 2021 Jun 17.
Brugada syndrome (BrS) is an inheritable disease with an increased risk of sudden cardiac death. Although several score systems have been proposed, the management of children with BrS has been inconsistently described.
The purpose of this study was to identify the characteristics, outcome, and risk factors associated with cardiovascular and arrhythmic events (AEs) in children younger than 12 years with BrS.
In this single-center case series, all children with spontaneous or drug/fever-induced type 1 Brugada electrocardiographic (ECG) pattern and younger than 12 years at the time of diagnosis were enrolled.
Forty-three patients younger than 12 years at the time of diagnosis were included. The median follow-up was 3.97 years (interquartile range 2-12 years). In terms of first-degree atrioventricular block, premature beats, nonmalignant AEs, malignant AEs, and episodes of syncope, no significant differences were observed either between patients with spontaneous and drug/fever-induced type 1 Brugada ECG pattern or between female and male patients (except a significant difference between female and male patients for first-degree atrioventricular block). A higher incidence of malignant AEs was observed in patients with syncope (3 of 8 [37.5%] vs 0 of 35 [0%]; P = .005) than in patients without syncope. SCN5A mutations were associated with a higher occurrence of malignant AEs (3 of 14 [21.4%] vs 0 of 25 [0%]; P = .04) compared with no SCN5A mutations.
A spontaneous type 1 Brugada ECG pattern is not associated with a higher incidence of syncope, first-degree atrioventricular block, premature beats, nonmalignant AEs, and malignant AEs than the drug/fever-induced type 1 Brugada ECG pattern. Syncope events are correlated with an increased incidence of malignant AEs. Moreover, SCN5A mutations are associated with a higher occurrence of malignant AEs.
Brugada 综合征（BrS）是一种遗传性疾病，其发生心源性猝死的风险增加。尽管已经提出了几种评分系统，但 BrS 患儿的管理方法描述并不一致。
本研究旨在确定小于 12 岁 BrS 患儿的心血管和心律失常事件（AE）的特征、结局和相关风险因素。
在这项单中心病例系列研究中，纳入了所有诊断时年龄小于 12 岁且存在自发性或药物/发热诱导 1 型 Brugada 心电图（ECG）模式的患儿。
共纳入 43 例诊断时年龄小于 12 岁的患儿。中位随访时间为 3.97 年（四分位间距 2-12 年）。在一度房室传导阻滞、期前收缩、非恶性 AE、恶性 AE 和晕厥发作方面，自发性与药物/发热诱导 1 型 Brugada ECG 模式的患儿、女性与男性患儿之间无显著差异（除女性一度房室传导阻滞发生率显著高于男性）。与无晕厥的患儿相比，有晕厥的患儿恶性 AE 发生率更高（8 例中的 3 例[37.5%]与 35 例中的 0 例[0%]；P =.005）。与无 SCN5A 突变的患儿相比，SCN5A 突变与恶性 AE 发生率更高相关（14 例中的 3 例[21.4%]与 25 例中的 0 例[0%]；P =.04）。
与药物/发热诱导 1 型 Brugada ECG 模式相比，自发性 1 型 Brugada ECG 模式与晕厥、一度房室传导阻滞、期前收缩、非恶性 AE 和恶性 AE 发生率增加无关。晕厥事件与恶性 AE 发生率增加相关。此外，SCN5A 突变与恶性 AE 发生率更高相关。
