Brugada syndrome: update and future perspectives

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Brugada syndrome (BrS) is an inherited cardiac disorder associated with arrhythmias and sudden cardiac death (SCD).
• Diagnosis and risk stratification for BrS remain challenging, especially in asymptomatic individuals.
• Understanding the genetic and molecular basis of BrS is evolving, with increasing recognition of structural substrates.

Purpose of the Study:

• To provide an updated review of the diagnosis, pathophysiology, and management of Brugada syndrome.
• To discuss novel insights into the genetic and molecular basis of BrS.
• To explore future perspectives in BrS research and patient care.

Main Methods:

• Review of current literature on Brugada syndrome.
• Analysis of recent studies on genetic and molecular pathophysiology.
• Evaluation of emerging risk stratification tools and models.

Main Results:

• Progress in understanding BrS pathophysiology is ongoing, with complex genetic and molecular factors identified.
• Risk scores integrating clinical, genetic, and environmental factors show potential for improved arrhythmia and SCD risk prediction.
• Asymptomatic patients constitute the majority of new BrS diagnoses.

Conclusions:

• Accurate diagnosis and risk stratification in Brugada syndrome are critical for patient management.
• Further research into integrated risk models may enhance prediction of disease expressivity and outcomes.
• Continued investigation into the genetic and structural underpinnings of BrS is essential for advancing therapeutic strategies.