Novel Variants in TECRL Cause Recessive Inherited CPVT Type 3 with Severe and Variable Clinical Symptoms

ConclusionThe data from our patient collective indicate that CPVT3 occurs much more frequently than previously expected. Variants inTECRL may be causative in up to 5 % of all CPVT cases. According to these findings, default analysis of this gene is recommended if CPVT is suspected.This article is protected by copyright. All rights reserved.

Source: Journal of Cardiovascular Electrophysiology - March 18, 2020 Category: Cardiology Authors: Alexander Moscu ‐Gregor, Christoph Marschall, Carsten Müntjes, Anne Schönecker, Franziska Schuessler‐Hahn, Felix Hohendanner, Abdul Shokor Parwani, Leif‐Hendrik Boldt, Claus‐Eric Ott, Anja Bennewiz, Thomas Paul, Ulrich Krause, Imma R Tags: ORIGINAL ARTICLE Source Type: research