Ewa Sieliwonczyk, Maaike Alaerts, Tomas Robyns, Dorien Schepers, Charlotte Claes, Anniek Corveleyn, Rik Willems, Emeline M Van Craenenbroeck, Eline Simons, Aleksandra Nijak, Bert Vandendriessche, Geert Mortier, Christiaan Vrints, Pieter Koopman, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Bart Loeys
AIMS: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected. METHODS AND RESULTS: The SCN5A founder mutation was confirmed by haplotype analysis. The clinical history and electrocardiographic parameters of the mutation carriers and their family members were gathered and compared...
November 22, 2020: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology