Artículo
Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant
Autor/es | Arana Rueda, Eduardo
Pezzotti, María R. Pedrote, Alonso Acosta, Juan Frutos-López, Manuel Varela, Lourdes M. García-Fernández, Noelia Castellano Orozco, Antonio Gonzalo |
Departamento | Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica |
Fecha de publicación | 2021-07 |
Fecha de depósito | 2021-12-01 |
Publicado en |
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Resumen | SCN5A gene variants are associated with both Brugada syndrome and conduction
disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch‐clamp electrophysiology ... SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch‐clamp electrophysiology are particularly beneficial for correct pathogenic classification and are related to disease penetrance and severity. Here, we identify a novel SCN5A loss of function variant, p.1449Y>H, which presented with high penetrance and complete left bundle branch block, totally masking the typical findings on the electrocardiogram. We highlight the possibility of this overlap combination that makes impossible an electrocardiographic diagnosis and, through a functional analysis, associate the p.1449Y>H variant to SCN5A pathogenicity. |
Cita | Arana Rueda, E., Pezzotti, M.R., Pedrote, A., Acosta, J., Frutos-López, M., Varela, L.M.,...,Castellano Orozco, A.G. (2021). Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant. Journal of Cardiovascular Electrophysiology, 2021 (32), 2785-2790. |
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