Key result
In Brugada syndrome probands with a first arrhythmic event, a pathogenic/likely pathogenic SCN5A variant was strongly associated with White ethnicity (OR 5.41; 95% CI 2.8-11.19; P<0.001).
Why the study?
Genetic studies of patients with Brugada syndrome with arrhythmic events have been limited.
Does SCN5A genotype correlate with specific clinical phenotypes in patients with Brugada syndrome and arrhythmic events?
Population
392 Brugada syndrome probands with first arrhythmic event across 10 Western and 4 Asian countries
Comparison
SCN5A+ vs SCN5A- genotype
Design
Multicenter international survey
Authors
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Does not support ethnicity-based SCN5A testing in Brugada syndrome; leaves open ancestry effects on arrhythmic risk.
Observational (n=392)
Yes
Does SCN5A genotype correlate with specific clinical phenotypes in patients with Brugada syndrome and arrhythmic events?
Odds Ratio: 5.41 (95% CI 2.8–11.19)
Absolute Event Rate: 87.5% vs 47%
p-value: p=<0.001
In Brugada syndrome probands with arrhythmic events, pathogenic SCN5A variants are associated with younger age at first event, female sex, White ethnicity, and family history of sudden cardiac death.
Milman et al. (2021) conducted an observational in Brugada syndrome (n=392). SCN5A pathogenic/likely pathogenic (P/LP) genotype vs. SCN5A- genotype was evaluated on White ethnicity (OR 5.41, 95% CI 2.8-11.19, p=<0.001). In Brugada syndrome probands with a first arrhythmic event, a pathogenic/likely pathogenic SCN5A variant was strongly associated with White ethnicity (OR 5.41; 95% CI 2.8-11.19; P<0.001).
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