Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
Miguel Fogaça-da-MataEstefanía Martínez-BarriosLorenzo Jiménez-MontañésJosé CruzaleguiFredy Chipa-CcasaniAndrea GrecoSergi CésarNúria Díez-EscutéPatricia CerralboIrene ZschaeckMarcos Clavero AdellAriadna Ayerza-CasasDaniel Palanca-AriasMarta LópezÒscar CampuzanoJosep BrugadaGeorgia Sarquella BrugadaPublished in: Genes (2024)
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.
Keyphrases
- pulmonary hypertension
- copy number
- pulmonary artery
- heart failure
- left ventricular
- case report
- genome wide
- mitral valve
- end stage renal disease
- ejection fraction
- pulmonary arterial hypertension
- newly diagnosed
- aortic valve
- gene expression
- prognostic factors
- genome wide identification
- coronary artery
- peritoneal dialysis
- aortic stenosis
- coronary artery disease
- transcription factor
- cardiac resynchronization therapy
- transcatheter aortic valve replacement