dc.creator | Arana Rueda, Eduardo | es |
dc.creator | Pezzotti, María R. | es |
dc.creator | Pedrote, Alonso | es |
dc.creator | Acosta, Juan | es |
dc.creator | Frutos-López, Manuel | es |
dc.creator | Varela, Lourdes M. | es |
dc.creator | García-Fernández, Noelia | es |
dc.creator | Castellano Orozco, Antonio Gonzalo | es |
dc.date.accessioned | 2021-12-01T16:53:42Z | |
dc.date.available | 2021-12-01T16:53:42Z | |
dc.date.issued | 2021-07 | |
dc.identifier.citation | 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. | |
dc.identifier.issn | 1540-8167 | es |
dc.identifier.uri | https://hdl.handle.net/11441/127915 | |
dc.description.abstract | 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. | es |
dc.description.sponsorship | Sociedad Española de Cardiología Ritmo 2017 | es |
dc.description.sponsorship | Consejería de Salud of the Junta de Andalucía PI‐0365‐2017 | es |
dc.format | application/pdf | es |
dc.format.extent | 5 p. | es |
dc.language.iso | eng | es |
dc.publisher | Wiley Periodicals, LLC. | es |
dc.relation.ispartof | Journal of Cardiovascular Electrophysiology, 2021 (32), 2785-2790. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Brugada syndrome | es |
dc.subject | Left bundle branch block | es |
dc.subject | Loss of function | es |
dc.subject | patch clamp | es |
dc.subject | SCN5A | es |
dc.title | Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica | es |
dc.relation.publisherversion | https://onlinelibrary.wiley.com/journal/15408167 | es |
dc.identifier.doi | 10.1111/jce.15215 | es |
dc.journaltitle | Journal of Cardiovascular Electrophysiology | es |
dc.publication.volumen | 32 | es |
dc.publication.issue | 10 | es |
dc.publication.initialPage | 2785 | es |
dc.publication.endPage | 2790 | es |