Key result
SCN5A mutations in Brugada syndrome linked to at least ~82% higher major arrhythmic risk across populations.
Why the study?
Whether the presence of an SCN5A mutation predicts risk in Brugada syndrome remains controversial, and previous findings may have been weakened by patient selection bias.
Does the presence of SCN5A mutations increase the risk of major arrhythmic events and electrophysiological defects in patients with Brugada syndrome?
Meta-Analysis (n=1,780)
Does the presence of SCN5A mutations increase the risk of major arrhythmic events and electrophysiological defects in patients with Brugada syndrome?
In patients with Brugada syndrome, the presence of SCN5A mutations is associated with more pronounced electrophysiological defects and a significantly higher risk of major arrhythmic events.
Answers are grounded in this paper and cite their sources.
May warrant intensified monitoring in SCN5A-positive Brugada patients; confirms elevated arrhythmic risk across ethnic groups.
Whether the presence of SCN5A mutation 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 with SCN5A mutations. 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 without SCN5A mutations, patients with SCN5A mutations 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 of SCN5A mutations 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 with SCN5A mutations 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.
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Chen et al. (2019) conducted a meta-analysis in Brugada syndrome (n=1,780). SCN5A mutations vs. Without SCN5A mutations was evaluated on Major arrhythmic events (OR 1.82 (Asian), OR 2.24 (Caucasian), 95% CI 1.07-3.11 (Asian), 1.02-4.90 (Caucasian), p=0.03 (Asian), 0.04 (Caucasian)). The presence of SCN5A mutations in Brugada syndrome patients was associated with an elevated risk of major arrhythmic events in both Asian (OR 1.82) and Caucasian (OR 2.24) populations.
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