Article
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Circulation. Arrhythmia and electrophysiology - 1 Apr 2024
Pannone Luigi, Bisignani Antonio, Osei Randy, Gauthey Anaïs, Sorgente Antonio, Monaco Cinzia, Della Rocca Domenico Giovanni, Del Monte Alvise, Strazdas Antanas, Mojica Joerelle, Al Housari Maysam, Miraglia Vincenzo, Mouram Sahar, Vetta Giampaolo, Paparella Gaetano, Ramak Robbert, Overeinder Ingrid, Bala Gezim, Almorad Alexandre, Ströker Erwin, Pappaert Gudrun, Sieira Juan, de Ravel Thomy, La Meir Mark, Sarkozy Andrea, Brugada Pedro, Chierchia Gian Battista, Van Dooren Sonia, de Asmundis Carlo
Abstract excerpt
BACKGROUND: A pathogenic/likely pathogenic variant can be found in 20% to 25% of patients with Brugada syndrome (BrS) and a pathogenic/likely pathogenic variant in SCN5A is associated with a worse prognosis. The aim of this study is to define the diagnostic yield of a large gene panel with American College of Medical Genetics and Genomics variant classification and to assess prognosis of SCN5A and non-SCN5A...
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