Abstract：
BACKGROUND: A rare gene variant in SCN5A can be found in approximately 20%-25% of patients with Brugada syndrome (BrS).
OBJECTIVE: The aim of this systematic review and meta-analysis was to evaluate the differences in clinical characteristics of BrS patients with and without SCN5A rare variants and the prognostic role of SCN5A for ventricular arrhythmias in BrS.
METHODS: PubMed and Cochrane Central Register of Controlled Trials (CENTRAL) were systematically searched from inception to January 2024 to identify all relevant studies. Studies were analyzed if they included patients diagnosed with BrS in whom genetic testing for SCN5A variants was performed and arrhythmic outcomes were reported.
RESULTS: A total of 17 studies with 3568 BrS patients, of whom 3030 underwent genetic testing for SCN5A variants, fulfilled the eligibility criteria and were included. Compared with SCN5A- patients, SCN5A+ BrS patients more frequently had spontaneous type 1 electrocardiogram, history of syncope, and documented arrhythmias. Furthermore, higher PQ and QRS intervals in SCN5A+ BrS patients compared with SCN5A- have been found. The pooled analysis demonstrated a significant association between the presence of SCN5A rare variants in BrS patients and the risk of major arrhythmic events, with a pooled odds ratio of 2.14 (95% confidence interval, 1.53-2.99; I2 = 29%).
CONCLUSIONS: SCN5A+ BrS patients showed a worse clinical phenotype compared with SCN5A-. The pooled analysis demonstrated a significant association between SCN5A+ mutation status and the risk of major arrhythmic events in BrS patients.
OBJECTIVE: The aim of this systematic review and meta-analysis was to evaluate the differences in clinical characteristics of BrS patients with and without SCN5A rare variants and the prognostic role of SCN5A for ventricular arrhythmias in BrS.
METHODS: PubMed and Cochrane Central Register of Controlled Trials (CENTRAL) were systematically searched from inception to January 2024 to identify all relevant studies. Studies were analyzed if they included patients diagnosed with BrS in whom genetic testing for SCN5A variants was performed and arrhythmic outcomes were reported.
RESULTS: A total of 17 studies with 3568 BrS patients, of whom 3030 underwent genetic testing for SCN5A variants, fulfilled the eligibility criteria and were included. Compared with SCN5A- patients, SCN5A+ BrS patients more frequently had spontaneous type 1 electrocardiogram, history of syncope, and documented arrhythmias. Furthermore, higher PQ and QRS intervals in SCN5A+ BrS patients compared with SCN5A- have been found. The pooled analysis demonstrated a significant association between the presence of SCN5A rare variants in BrS patients and the risk of major arrhythmic events, with a pooled odds ratio of 2.14 (95% confidence interval, 1.53-2.99; I2 = 29%).
CONCLUSIONS: SCN5A+ BrS patients showed a worse clinical phenotype compared with SCN5A-. The pooled analysis demonstrated a significant association between SCN5A+ mutation status and the risk of major arrhythmic events in BrS patients.
摘要：
背景：在大约20-25％的Brugada综合征（BrS）患者中可以发现SCN5A中的一种罕见基因变异。
目的：本系统综述和荟萃分析的目的是评估：（1）有和没有SCN5A罕见变异的BrS患者临床特征的差异，以及（2）SCN5A对BrS室性心律失常的预后作用。
方法：从开始到2024年1月对PubMed和Cochrane中央对照试验注册中心（CENTRAL）进行了系统搜索，以确定所有相关研究。分析研究是否包括诊断为BrS的患者，其中进行了SCN5A变异的基因检测并报告了心律失常结果。
结果：共17项研究，涉及3568例BrS患者，其中3030名患者接受了SCN5A变异基因检测，符合资格标准并被纳入。与SCN5A患者相比，SCN5A+BrS患者有更频繁的自发性I型心电图，晕厥和心律失常病史。此外，SCN5A+BrS患者的PQ和QRS间期较高，与SCN5A-相比已发现。汇总分析表明，BrS患者中SCN5A罕见变异的存在与MAE的风险之间存在显着关联。合并OR为2.14（95%CI：1.53；2.99，I2=29%）。
结论：与SCN5A-相比，SCN5A+BrS患者的临床表型更差。汇总分析表明SCN5A+突变状态与BrS患者MAE风险之间存在显著关联。
目的：本系统综述和荟萃分析的目的是评估：（1）有和没有SCN5A罕见变异的BrS患者临床特征的差异，以及（2）SCN5A对BrS室性心律失常的预后作用。
方法：从开始到2024年1月对PubMed和Cochrane中央对照试验注册中心（CENTRAL）进行了系统搜索，以确定所有相关研究。分析研究是否包括诊断为BrS的患者，其中进行了SCN5A变异的基因检测并报告了心律失常结果。
结果：共17项研究，涉及3568例BrS患者，其中3030名患者接受了SCN5A变异基因检测，符合资格标准并被纳入。与SCN5A患者相比，SCN5A+BrS患者有更频繁的自发性I型心电图，晕厥和心律失常病史。此外，SCN5A+BrS患者的PQ和QRS间期较高，与SCN5A-相比已发现。汇总分析表明，BrS患者中SCN5A罕见变异的存在与MAE的风险之间存在显着关联。合并OR为2.14（95%CI：1.53；2.99，I2=29%）。
结论：与SCN5A-相比，SCN5A+BrS患者的临床表型更差。汇总分析表明SCN5A+突变状态与BrS患者MAE风险之间存在显著关联。
