Arrhythmias & electrophysiology
Genetic Testing in Brugada Syndrome: A 30-Year Experience
Authors' conclusion
In a large BrS cohort, the yield for SCN5A+ is 20.8%. A predicted loss of function variant carrier is an independent predictor of VA.
Study context
- Population
- Patients with Brugada syndrome (BrS) with large gene panel genetic analysis, Universitair Ziekenhuis Brussel registry, 1992–2022
- Participants
- 500 patients
- Exposure
- SCN5A+ vs SCN5A-; predicted loss of function vs missense variant carriers vs no variant
- SCN5A+n = 104
- SCN5A-n = 396reference
- Outcome
- Diagnostic yield of a large gene panel (ACMG classification) and prognosis (ventricular arrhythmia) of SCN5A and non-SCN5A variants
Methodological detailssingle-centre registry
- Single-centre registry
Main finding
As reported in the abstract
Diagnostic yield
- Non-SCN5A gene variant
- 75 (15.0%)
- Non-SCN5A missense variant
- 58 (77.3%)
- Non-SCN5A predicted loss of function variant
- 17 (22.7%)
Observational data: associations, not effects.
Further findings
Ventricular arrhythmia (VA) · follow-up of 84.0 months
- Patients with VA (overall)
- 48 (9.6%)
- Higher VA-free survival without any variant vs predicted loss of function carriers (SCN5A+ or non-SCN5A)
- No difference in VA-free survival between no variant and missense variant carriers (SCN5A+ or non-SCN5A)
- SCN5A+ or non-SCN5A predicted loss of function variant independent predictor of VA (Cox analysis)
Original publication
Genetic Testing in Brugada Syndrome: A 30-Year Experience. Circ Arrhythm Electrophysiol. Published 1 March 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →