# Identification of a SCN5A Genetic Variant Associated With Type 1 Brugada Syndrome (BrS) in a Family

## TL;DR

A family with a history of heart issues was found to have a genetic variant in SCN5A linked to Brugada syndrome, a condition that increases the risk of sudden cardiac death.

## Contribution

The study reclassifies a previously uncertain SCN5A variant as pathogenic based on its segregation with BrS in a family.

## Key findings

- A variant in the SCN5A gene was identified in a patient and six relatives with BrS symptoms.
- The variant was reclassified as pathogenic due to its association with the disease in the family.
- The patient underwent ICD placement after EPS revealed ventricular tachyarrhythmia.

## Abstract

The Brugada pattern is associated with a genetic disorder characterized by ST-segment elevation in the right precordial leads on electrocardiogram (EKG) in the absence of structural heart disease. Patients with the Brugada pattern have an increased risk for ventricular tachyarrhythmia and sudden cardiac death. Loss-of-function mutations in the SCN5A gene which encodes the alpha subunit of the cardiac sodium channel have been associated with Brugada syndrome (BrS). We report a case of a patient who was found to have a spontaneous type 1 Brugada pattern on a routine EKG done prior to travel. He underwent electrophysiological testing (EPS) which provoked ventricular tachycardia and underwent implantable cardioverter defibrillator (ICD) placement. His family history revealed a history of sudden cardiac death, abnormal EKG, syncope, dilated cardiomyopathy, and BrS. Genetic testing revealed a variant of uncertain significance (VUS) in the SCN5A gene in the proband and six of his relatives. The SCN5A VUS in this clinical context and segregation with the disease in his family supports its reclassification to pathogenic.