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Título: | 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: | Arana-Rueda, Eduardo CSIC ORCID; Pezzotti, María R. CSIC; Pedrote, Alonso; Acosta, Juan; Frutos‐López, Manuel; Varela, Lourdes CSIC ORCID; García-Fernández, Noelia; Castellano, Antonio CSIC ORCID | Palabras clave: | Brugada syndrome Left bundle branch block Loss of function Patch clamp SCN5A |
Fecha de publicación: | oct-2021 | Editor: | John Wiley & Sons | Citación: | Journal of Cardiovascular Electrophysiology 32(10): 2785-2790 (2021) | 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 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. | Versión del editor: | http://dx.doi.org/10.1111/jce.15215 | URI: | http://hdl.handle.net/10261/266215 | DOI: | 10.1111/jce.15215 | Identificadores: | doi: 10.1111/jce.15215 issn: 1045-3873 e-issn: 1540-8167 |
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