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- Title
Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
- Authors
Fogaça-da-Mata, Miguel; Martínez-Barrios, Estefanía; Jiménez-Montañés, Lorenzo; Cruzalegui, José; Chipa-Ccasani, Fredy; Greco, Andrea; Cesar, Sergi; Díez-Escuté, Núria; Cerralbo, Patricia; Zschaeck, Irene; Clavero Adell, Marcos; Ayerza-Casas, Ariadna; Palanca-Arias, Daniel; López, Marta; Campuzano, Oscar; Brugada, Josep; Sarquella-Brugada, Georgia
- Abstract
Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A, and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.
- Subjects
BRUGADA syndrome; VENTRICULAR septum; PULMONARY atresia; HEART septum; PULMONARY valve; PULMONARY circulation
- Publication
Genes, 2024, Vol 15, Issue 5, p638
- ISSN
2073-4425
- Publication type
Case Study
- DOI
10.3390/genes15050638