Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta-analysis

被引:24
作者
Chen, Chen [1 ]
Tan, Zhaochong [1 ]
Zhu, Wengen [1 ]
Fu, Linghua [1 ]
Kong, Qiling [1 ]
Xiong, Qinmei [1 ]
Yu, Jianhua [1 ]
Hong, Kui [1 ,2 ,3 ]
机构
[1] Nanchang Univ, Dept Cardiovasc Med, Affiliated Hosp 2, 1,Minde Rd, Nanchang 330006, Jiangxi, Peoples R China
[2] Jiangxi Key Lab Mol Med, Nanchang 330006, Jiangxi, Peoples R China
[3] Nanchang Univ, Affiliated Hosp 2, Dept Genet Med, Nanchang 330006, Jiangxi, Peoples R China
基金
中国国家自然科学基金;
关键词
Brugada syndrome; genotype; phenotype; proband; risk stratification; SCN5A; GENOTYPE-PHENOTYPE RELATIONSHIP; EXPERT CONSENSUS STATEMENT; LONG-TERM PROGNOSIS; RISK STRATIFICATION; ELECTROCARDIOGRAPHIC FEATURES; CARDIOVERTER-DEFIBRILLATOR; VENTRICULAR-FIBRILLATION; ATRIAL-FIBRILLATION; GENE-MUTATIONS; FOLLOW-UP;
D O I
10.1111/cge.13552
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Whether the presence ofSCN5Amutation is a predictor of BrS risk remains controversial, and patient selection bias may have weakened previous findings. Therefore, we performed this study to clarify the clinical characteristics and outcomes of BrS probands withSCN5Amutations. We systematically retrieved eligible studies published through October 2018. A total of 17 studies enrolling 1780 BrS patients were included. Overall, our results found that compared with BrS patients withoutSCN5Amutations, patients withSCN5Amutations exhibited a younger age at the onset of symptoms and higher rate of the spontaneous type-1 electrocardiogram pattern, more pronounced conduction or repolarization abnormalities, and increased atrial vulnerability. In addition, the presence ofSCN5Amutations was associated with an elevated risk of major arrhythmic events in both Asian (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.07-3.11;P = .03) and Caucasian (OR = 2.24, 95% CI 1.02-4.90;P = .04) populations. In conclusions, patients withSCN5Amutations exhibit more pronounced electrophysiological defects and more severe prognosis. Clinicians should be cautious when utilizing genetic testing for risk stratification or treatment guidance before determining whether the causal relationship regarding SCN5A mutation status is an independent predictor of risk.
引用
收藏
页码:198 / 208
页数:11
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