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Updated: Feb 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic Testing for Cardiac Arrhythmias: Ready for Prime Time?
Steven J Fowler1, Raffaella Bloise2
1Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, NYU Langone Medical Center, New York, USA; Clinical Cardiac Electrophysiology, Leon H. Charney Division of Cardiology, NYU Langone Medical Center, New York, USA.
Abstract:
Despite the heterogeneity of substrates and clinical expressivity, genetic testing has a direct impact on clinical practice: it allows a specific diagnosis, including silent carriers (ie, asymptomatic diagnosis) and, in select diseases, the identification of a mutation has major impact for risk stratification and treatment of patients. This article addresses the role of genetic testing for each of the most epidemiologically relevant inherited arrhythmogenic diseases, specifically long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy.
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