Why the study?
SCN5A mutations are found in only a minority of Brugada syndrome patients, and establishing a genotype-phenotype relationship might facilitate screening.
Does the presence of an SCN5A mutation in Brugada syndrome patients correlate with specific clinical or electrocardiographic features compared to non-carriers?
Population
Brugada syndrome patients with (n = 23) or without (n = 54) an identified SCN5A mutation
Comparison
SCN5A mutation carriers vs non-carriers
Design
Multicenter study
Key result
Brugada syndrome patients with an SCN5A mutation had significantly longer baseline PQ and HV intervals compared to non-carriers, with PQ ≥210 ms and HV ≥60 ms predictive of mutation presence.
Authors
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May aid noninvasive SCN5A prediction in Brugada syndrome; extends genotype-phenotype correlations while leaving management implications open.
Observational (n=77)
Yes
Does the presence of an SCN5A mutation in Brugada syndrome patients correlate with specific clinical or electrocardiographic features compared to non-carriers?
Brugada syndrome patients with an SCN5A mutation exhibit significantly longer conduction intervals on baseline ECG and after sodium channel blockade, allowing for phenotypic differentiation from non-carriers.
SMITS et al. (2002) conducted an observational in Brugada syndrome (n=77). SCN5A mutation (carriers) vs. No SCN5A mutation (non-carriers) was evaluated on Electrocardiographic parameters including PQ interval and HV time. Brugada syndrome patients with an SCN5A mutation had significantly longer baseline PQ and HV intervals compared to non-carriers, with PQ ≥210 ms and HV ≥60 ms predictive of mutation presence.
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