Brugada Syndrome: More than a Monogenic Channelopathy
2023
Antonella Liantonio | Matteo Bertini | Antonietta Mele | Cristina Balla | Giorgia Dinoi | Rita Selvatici | Marco Mele | Annamaria De Luca | Francesca Gualandi | Paola Imbrici
Brugada syndrome (BrS) is an inherited cardiac channelopathy first diagnosed in 1992 but still considered a challenging disease in terms of diagnosis, arrhythmia risk prediction, pathophysiology and management. Despite about 20% of individuals carrying pathogenic variants in the <i>SCN5A</i> gene, the identification of a polygenic origin for BrS and the potential role of common genetic variants provide the basis for applying polygenic risk scores for individual risk prediction. The pathophysiological mechanisms are still unclear, and the initial thinking of this syndrome as a primary electrical disease is evolving towards a partly structural disease. This review focuses on the main scientific advancements in the identification of biomarkers for diagnosis, risk stratification, pathophysiology and therapy of BrS. A comprehensive model that integrates clinical and genetic factors, comorbidities, age and gender, and perhaps environmental influences may provide the opportunity to enhance patients’ quality of life and improve the therapeutic approach.
显示更多 [+] 显示较少 [-]