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Updated: Aug 3, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[The Brugada syndrome]
M Richardy1, P Mélon, A Waleffe
1Chef du Service de Cardiologie, CHU de Liège.
Abstract:
The Brugada syndrome, a genetically transmitted disease according to an autosomal mode with a variable penetrance, is responsible for sudden death secondary to polymorphic ventricular tachycardia. The diagnosis is based on a typical electrocardiographical paturn that combines a right bundle branch block with ST elevation in the right precordial leads. In high risk patients, the automatic implantable defibrillator has the unique capability to protect against the occurrence of ventricular arrhythmias.
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