Article
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
Journal of cardiovascular electrophysiology - 1 Jun 2020
Moscu-Gregor Alexander, Marschall Christoph, Müntjes Carsten, Schönecker Anne, Schuessler-Hahn Franziska, Hohendanner Felix, Parwani Abdul Shokor, Boldt Leif-Hendrik, Ott Claus-Eric, Bennewiz Anja, Paul Thomas, Krause Ulrich, Rost Imma
Abstract excerpt
INTRODUCTION: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. The most common form of CPVT is due to autosomal dominant variants in the cardiac ryanodine-receptor gene (RYR2). However, trans-2,3-enoyl-CoA reductase-like (TECRL) was recently suggested to be a novel candidate gene for...
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