Why the study?
Does SCN5A mutation status correlate with clinical phenotype and prognosis in patients with Brugada syndrome?
Population
76 non-related patients with Brugada syndrome
Comparison
Direct sequencing and multiplex… vs Wild-type probands
Design
Cohort
Key result
In patients with Brugada syndrome, SCN5A mutations were associated with a trend toward more spontaneous type I ECGs compared to wild-type probands (87.5% vs 52.9%, p=0.06).
Authors
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SCN5A mutations should not guide risk stratification in Brugada syndrome; leaves open genotype-ECG correlations in larger cohorts.
Cohort (n=76)
Does SCN5A mutation status correlate with clinical phenotype and prognosis in patients with Brugada syndrome?
Absolute Event Rate: 87.5% vs 52.9%
p-value: p=0.06
In a cohort of Brugada syndrome patients, SCN5A mutations were found in 10.5% and were associated with familial disease and a trend toward spontaneous type I ECG, but not with increased arrhythmic events.
García-Molina et al. (2012) conducted a cohort in Brugada syndrome (n=76). SCN5A gene mutations vs. Wild-type (no SCN5A mutations) was evaluated on Spontaneous type I Brugada ECG (p=0.06). In patients with Brugada syndrome, SCN5A mutations were associated with a trend toward more spontaneous type I ECGs compared to wild-type probands (87.5% vs 52.9%, p=0.06).