# Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

## TL;DR

A child with a rare heart defect also had a genetic variant linked to Brugada syndrome, suggesting a possible new genetic connection.

## Contribution

First report of a SCN5A variant in a patient with pulmonary atresia and Brugada pattern, suggesting a genetic link.

## Key findings

- A 4-year-old with pulmonary atresia had a de novo SCN5A variant.
- The ajmaline test revealed a Brugada pattern in the patient.
- SCN5A variants may contribute to pulmonary atresia embryogenesis.

## 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.