Arrhythmias & electrophysiology
Nonmodifiable Risk Factors Predict Outcomes in Brugada Syndrome
Authors' conclusion
Our data show that male sex, type of SCN5A mutation, and polygenic risk score for BrS define the nonmodifiable risk of each patient with BrS. Nonmodifiable risk is independently associated with LAE, regardless of symptoms or pattern type.
Study context
- Population
- Unrelated Italian patients with Brugada syndrome screened for SCN5A and 3 Brugada syndrome (BrS)-associated SNVs81% males
- Participants
- 2,182 patients
- Outcome
- Life-threatening arrhythmic events (LAEs)
- Follow-up
- First LAE since birth
Methodological detailsconsecutive unrelated patients, multivariable Cox proportional hazards model, internally validated
- Consecutive unrelated patients
- Multivariable Cox proportional hazards model
- Internally validated
Main finding
As reported in the abstract
Nonmodifiable risk factors for first LAE since birth (multivariable)
Hazard ratio (95% CI)P value
Male sex
3.6(1.9–6.9)
P = 0.0001Missense SCN5A mutations in BrS-enriched domains
2.3(1.2–4.3)
P = 0.008Nonmissense SCN5A mutations
3.2(1.8–5.7)
P < 0.001Polygenic risk score for BrS
1.3(1.0–1.6)
P = 0.041Observational data: associations, not effects.
Further findings
LAE at follow-up (multivariable)
| HR (95% CI) | P value | ||
|---|---|---|---|
| Nonmodifiable risk | 1.8 (1.1–2.7) | P = 0.014 | |
| History of LAE before diagnosis | 13.8 (8.1–23.7) | P < 0.0001 | |
| History of unexplained syncope before diagnosis | 4.1 (2.4–6.8) | P < 0.0001 | |
| Spontaneous type 1 pattern at diagnosis | 2.1 (1.2–3.8) | P = 0.010 | |
| 0.050.21520Hazard ratio (log scale) |
Original publication
Nonmodifiable Risk Factors Predict Outcomes in Brugada Syndrome. J Am Coll Cardiol. Published 9 October 2024. doi:10. 1016/ j. jacc. 2024. 07. 037
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