Article
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Jun 2007
Frigo Gianfranco, Rampazzo Alessandra, Bauce Barbara, Pilichou Kalliopi, Beffagna Giorgia, Danieli Gian Antonio, Nava Andrea, Martini Bortolo
Abstract excerpt
AIMS: To describe a patient showing monomorphic ventricular tachycardia, ECG aspect of Brugada syndrome, and structural heart abnormalities due to a homozygous missense mutation in SCN5A. METHODS AND RESULTS: Thirteen subjects (six males, seven females, mean age 46 +/- 22 years) belonging to the same family underwent physical examination, basal biochemical marker detection, 12-lead ECG, Holter ECG,...
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