Impact on risk stratification of overlap syndrome phenotype (Brugada and Long QT type 3) in patients with E1784K mutation in SCN5A

2025-08-08 cardiovascular medicine Title + abstract only

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IntroductionRisk stratification of patients with the SCN5A-E1784K mutation is challenging because they can express Brugada syndrome, long QT syndrome (LQTS), or both phenotypes (overlap syndrome). This study compared arrhythmic risk in patients with overlap syndrome versus single phenotype presentations. MethodsWe retrospectively enrolled patients aged 12 and older carrying the SCN5A-E1784K mutation. The primary outcome was major cardiac events (MCEs) defined as sustained ventricular arrhythmia...

Impact on risk stratification of overlap syndrome phenotype (Brugada and Long QT type 3) in patients with E1784K mutation in SCN5A

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