Brugada syndrome, caused by an ion channelopathy, is characterized by ST-segment abnormalities in leads V1-V3 on ECG and an increased risk of sudden death in patients with structurally normal hearts. Brugada syndrome manifests predominantly during adulthood, in patients between ages 20 to 40.
Symptoms include ventricular arrhythmia, syncope, and cardiac arrest usually during sleep or rest. In some patients sudden cardiac death may occur without any sign of clinical symptoms. Brugada syndrome may overlap with conduction disease. Symptoms such as first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome could be included in a differential diagnosis.
The prevalence of Brugada syndrome is estimated to affect 5 in 10,000 people worldwide. Although Brugada syndrome affects both men and women, the condition is more prevalent among men.
Brugada syndrome is inherited in an autosomal dominant manner.
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Risk assessment of at-risk relatives
- Prenatal diagnosis for known familial mutation
- Differential diagnosis of Brugada syndrome from other genetic heart conditions
- Genetic counseling
Antzelevitch C et al. Brugada Syndrome. Report of the second consensus conference. Heart Rhythm 2005; 2 (4): 429–440
Brugada R et al. Brugada Syndrome. GeneReviews® 2005 Mar 31 (Updated 2014 Apr 10).
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