Brugada syndrome and pulmonary atresia with intact interventricular septum: fortuitous finding or new genetic connection?

HIGHLIGHTS

  • What: The authors report for the first time 4-year-old boy with pulmonary atresia with an intact ventricular who harbored pathogenic de novo variant in SCN5A and the ajmaline test unmasked type-1 pattern. The authors report a 4-year-old boy with a history that includes a prenatal diagnosis of PAIVS (International Paediatric and Congenital Cardiac Code 01.01.07) with confluent pulmonary branches.
  • Who: Miguel Fogaça-da-Mata and collaborators from the GUARD-Heart), AZ Amsterdam, The Netherlands Pediatric Cardiology Unit, University Hospital Servet, Zaragoza, Spain have published the research work . . .

     

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