This is a genotype with recommended actions if clinically confirmed. In brief:
- Brugada syndrome is characterized by a distinctive ECG pattern of sinus tachycardia (ST) in the absence of gross structural abnormalities. Patients have a high risk for ventricular arrhythmias, which can result in syncope or sudden cardiac death.
- Brugada Syndrome arises from certain mutations in the SCN5A gene; other mutations in this gene may lead to Romano-Ward Long QT Sydrome.
- Treatment of asymptomatic individuals is controversial and recommendations vary, but include observation until the first symptom develops and placement of an implantable cardioverter defibrillator (ICD) in those with a family history of sudden cardiac death or when electrophysiological study indicates a likelihood of arrhythmias.
- Quinidine is recommended to prevent primary symptoms, and has been shown to restore ST-segment elevation and decrease the incidence of arrhythmias.
- After initial diagnosis, patients are recommended to undergo an ECG, induction with sodium channel blockers among those with a type 2 or type 3 pattern on ECG, electrophysiological study, and medical genetics consultation.
- At-risk patients with a family history or a known pathogenic variant should undergo ECG monitoring every one to two years.
- Patients should avoid certain antiarrhythmic, psychotropic, and anesthetic drugs that can induce cardiac arrhythmias.
The full ClinGen Actionability report about Brugada Syndrome can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.