Why the study?
Interpretation and management of benign or variants of unknown clinical significance in SCN5A remain challenging in Brugada syndrome, prompting investigation into their relationship with clinical symptoms.
Does the presence of specific SCN5A variants affect the risk of cardiac events and clinical symptoms in patients with Brugada syndrome?
Population
239 patients diagnosed with BrS at Hiroshima University Hospital
Comparison
BrS patients with SCN5A variants vs those without
Design
Observational genetic and clinical association study
Key result
SCN5A pathogenic variants were independently associated with a significantly higher risk of cardiac events in patients with Brugada syndrome (OR 11.2).
Authors
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SCN5A pathogenic variants independently predict cardiac events in BrS; supports incorporating them into risk assessment while VUS prognostic value remains uncertain.
Observational (n=239)
No
Does the presence of specific SCN5A variants affect the risk of cardiac events and clinical symptoms in patients with Brugada syndrome?
Odds Ratio: 11.2 (95% CI 1.5–227.4)
Absolute Event Rate: 85.7% vs 17.7%
p-value: p=0.037
SCN5A pathogenic variants are independent risk factors for cardiac events in Brugada syndrome, and signal-averaged ECG is useful for risk stratification in patients with variants of unknown significance.
Okamura et al. (2025) conducted an observational in Brugada syndrome (n=239). SCN5A pathogenic variants vs. No SCN5A variants was evaluated on Symptomatic Brugada syndrome (cardiac events) (OR 11.2, 95% CI 1.5-227.4, p=0.037). SCN5A pathogenic variants were independently associated with a significantly higher risk of cardiac events in patients with Brugada syndrome (OR 11.2).