Arrhythmias & electrophysiologyCohort study
SCN5A variant type-dependent risk prediction in Brugada syndrome
- Retrospective cohort study
Authors' conclusion
We identified, for the first time, that SCN5A non-missense variants were associated with higher probability of LAE than missense variants in BrS patients though it did not change significantly after diagnosis.
Study context
- Population
- Japanese Brugada syndrome (BrS) patients with loss of function (LOF) SCN5A variants (74% male, median age at diagnosis 28 [IQR 14–45] years)
- Participants
- 76 patients
- Exposure
- Non-missense vs missense SCN5A LOF variants
- Non-missensen = 36
- Missensen = 40reference
- Outcome
- Lifetime lethal arrhythmia events (LAEs)
- Follow-up
- 9.0 [5.0-14.0] years
Main finding
As reported in the abstract
Lifetime LAEs
- Non-missense vs Missense: P = 0.023
Observational data: associations, not effects.
Further findings
Lethal arrhythmia events (LAEs), missense variants producing no peak INa vs non-missense (subgroup)
- Same clinical outcomes as non-missense
- log-rank P = 0.325
LAEs after diagnosis
- Both variant types comparable in risk
- P = 0.155
Cardiac conduction disorder
- Significantly more severe with non-missense variants
Original publication
SCN5A variant type-dependent risk prediction in Brugada syndrome. Europace. Published 11 February 2025. doi:10.1093/europace/euaf024
Summarised from the published abstract; every number is checked against it