作者
Luigi Pannone,Antonio Bisignani,Randy Osei,Anaïs Gauthey,Antonio Sorgente,Cinzia Monaco,Domenico G. Della Rocca,Alvise Del Monte,Antanas Strazdas,Joerelle Mojica,Maysam Al Housari,Vincenzo Miraglia,Sahar Mouram,Giampaolo Vetta,Gaetano Paparella,Robbert Ramak,Ingrid Overeinder,Gezim Bala,Alexandre Almorad,Erwin Ströker,Gudrun Pappaert,Juan Sieira,Thomy de Ravel,Mark La Meir,Andrea Sarkozy,Pedro Brugada,Gian‐Battista Chierchia,Sonia Van Dooren,Carlo de Asmundis
摘要
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 variants.