SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping

Autor: Luigi Pannone, Cinzia Monaco, Antonio Sorgente, Pasquale Vergara, Anaïs Gauthey, Paul-Adrian Calburean, Antonio Bisignani, Gaetano Paparella, Robbert Ramak, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Ströker, Gudrun Pappaert, Juan Sieira, Pedro Brugada, Sonia Van Dooren, Thomy de Ravel, Mark La Meir, Gian Battista Chierchia, Carlo de Asmundis
Přispěvatelé: Clinical sciences, Faculty of Medicine and Pharmacy, Heartrhythmmanagement, Cardio-vascular diseases, Medical Imaging, Reproduction and Genetics, Medical Genetics, Vascular surgery, Surgical clinical sciences, Cardiac Surgery
Rok vydání: 2022
Předmět:
Zdroj: Heart Rhythm. 19:945-951
ISSN: 1547-5271
DOI: 10.1016/j.hrthm.2022.01.034
Popis: Background: Brugada syndrome (BrS) is caused by mutations in SCN5A gene in 15%-20% of cases. Previous studies showed worse prognosis in SCN5A mutation carriers (SCN5A+). To date, there are no data on genotype–phenotype correlation with electrocardiographic (ECG) imaging (ECGI) and high-density epicardial electroanatomic map. Objective: This study aimed to correlate SCN5A mutation with substrate severity in BrS assessed by ECGI and high-density electroanatomic map. Methods: All consecutive BrS patients undergoing ECGI and high-density epicardial electroanatomic map with HD Grid Mapping Catheter were retrospectively analyzed. On ECGI, the following parameters were analyzed before and after ajmaline administration: right ventricular outflow tract (RVOT) activation time (RVOT-AT) and RVOT recovery time (RVOT-RT). On electroanatomic map, the parameters analyzed before and after ajmaline were high-frequency potential activation time (HFPat), high-frequency potential duration (HFPd), high-frequency potential amplitude (HFPa), low-frequency potential activation time (LFPat), low-frequency potential duration (LFPd), and low-frequency potential amplitude (LFPa). Results: Thirty-nine BrS patients with ECGI were included. Eight patients (20.5%) were SCN5A+. At baseline ECGI map, mean RVOT-RT was longer in SCN5A+ (P = .024). After ajmaline administration, SCN5A+ patients showed longer RVOT-AT (125.6 vs 100.8 ms; P = .045) and longer RVOT-RT (426.4 vs 397 ms; P = .033). After ajmaline administration, SCN5A+ showed longer HFPat (164.1 vs 119.5 ms; P = .041); longer LFPat (272.7 vs 200.5 ms; P = .018); and longer LFPd (211.9 vs 151.2 ms; P = .033). Conclusion: In BrS, SCN5A+ patients compared with SCN5A– patients exhibit marked depolarization and repolarization abnormalities as assessed by ECGI and epicardial high-density electroanatomic map.
Databáze: OpenAIRE