The SCN5A Gene Is a Predictor of Phenotype Severity in Brugada Syndrome: A Comprehensive Literature Review

Conclusion: In this review, we show how the SCN5A mutation status predicts phenotypic characteristics and prognosis in patients with BrS. We conclude that SCN5A mutations weakly predict greater malignant arrhythmic event risk in BrS patients. However, SCN5A mutations do not show robust enough associations with severity indicators to be an independent part of current risk stratification strategies. With advancing knowledge of BrS genetics, the integration of data on rare variants of SCN5A and polygenic risk scores could make an impact on clinical decision-making.
Source: Medical Principles and Practice - Category: Internal Medicine Source Type: research