Key result
A novel homozygous missense mutation in SCN5A (R814Q) was associated with atypical ventricular arrhythmias and right structural abnormalities in a proband with Brugada syndrome.
Population
13 subjects belonging to the same family, including a proband with monomorphic ventricular tachycardia, ECG…
Design
Case_series
Authors
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Hypothesizes expanded Brugada phenotypes with homozygous SCN5A variants; hypothesis-generating and should not yet change practice.
Case Report (n=13)
This study provides the first evidence of a homozygous missense mutation in SCN5A associated with atypical ventricular arrhythmias and right structural abnormalities in Brugada syndrome.
Frigo et al. (2007) conducted a case report in Brugada syndrome (n=13). A novel homozygous missense mutation in SCN5A (R814Q) was associated with atypical ventricular arrhythmias and right structural abnormalities in a proband with Brugada syndrome.
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