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Updated: Oct 9, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes
1Department of Pediatrics (Cardiology), Texas Children's Hospital and Baylor College of Medicine, Houston 77030, USA. jtowbin@bcm.tmc.edu
Abstract:
This article outlines the up-to-date understanding of the molecular basis of primary ventricular arrhythmias. Two disorders have recently been well described at the molecular level, the long QT syndromes and Brugada syndrome, and this article reviews the current scientific knowledge of each disease. A third disorder, arrhythmogenic right ventricular dysplasia, which is on the cusp of understanding, will also be described.
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