Arrhythmias & electrophysiology
Genetic testing in children with Brugada syndrome: results from a large prospective registry
Authors' conclusion
In a large BrS cohort, the diagnostic yield for P/LP variants in the paediatric population is 46%. P+ children with BrS have a worse arrhythmic prognosis.
Study context
- Population
- Consecutive patients diagnosed with Brugada syndrome with large gene panel testing and ACMG variant classification, UZ Brussel Brugada syndrome (BrS) registry, 1992–2022
- Participants
- 29 / 34 / 63 / 437
- Exposure
- SCN5A P/LP variant carriers (P+) vs non-carriers (P-) in paediatric BrS; paediatric vs adult BrS
- P+n = 29
- P-n = 34reference
- Paediatricn = 63
- Adultn = 437reference
- Outcome
- Ventricular arrhythmias (VAs)
- Follow-up
- Mean 125.9 months
Methodological detailssingle-centre registry, consecutive patients
- Single-centre registry
- Consecutive patients
Main finding
As reported in the abstract
VAs (ICD shock)
- P- paediatric patients had higher VA-free survival than P+ paediatric patients
- P+ status was an independent predictor of VA
Observational data: associations, not effects.
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Genetic testing in children with Brugada syndrome: results from a large prospective registry. Europace. Published 16 April 2023. doi:10.
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