Continuous Variant Re-Classification: An Effective Tool in the Ongoing Quest to Escape Genetic Purgatory

Genotype, albeit to varying degrees, impacts the diagnosis, risk-stratification, and management of many genetic heart diseases (GHDs).1 Accordingly, since the start of the new millennium, genetic testing has evolved from a research-based investigational test to a class I recommended, standard of care clinical test for patients with inherited cardiac channelopathies and cardiomyopathies such as arrhythmogenic cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, hypertrophic cardiomyopathy, and long QT syndrome (LQTS).
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research