Study Data from Hospital Sant Joan de Deu Provide New Insights into Pulmonary Atresia (Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?).

A recent study conducted at Hospital Sant Joan de Deu in Barcelona, Spain, has found a potential genetic connection between Brugada syndrome and pulmonary atresia with intact interventricular septum. Brugada syndrome is a rare arrhythmogenic syndrome associated with pathogenic variants in the SCN5A gene. The study reports on a 4-year-old boy with pulmonary atresia who also had a pathogenic de novo variant in SCN5A, and the ajmaline test revealed a type-1 Brugada pattern. The researchers suggest that deleterious variants in the SCN5A gene may be implicated in the embryogenesis of pulmonary atresia with intact interventricular septum, leading to overlapping phenotypes. Further research is needed to explore this potential genetic connection. [Extracted from the article]