Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/176842
COMPARTIR / EXPORTAR:
logo share SHARE logo core CORE BASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE

Invitar a revisión por pares abierta
Campo DC Valor Lengua/Idioma
dc.contributor.authorDomínguez, Fernandoes_ES
dc.contributor.authorCuenca, Sofíaes_ES
dc.contributor.authorBilinska, Zofiaes_ES
dc.contributor.authorToro, Rocíoes_ES
dc.contributor.authorVillard, Erices_ES
dc.contributor.authorBarriales-Villa, Robertoes_ES
dc.contributor.authorOchoa, Juan Pabloes_ES
dc.contributor.authorAsselbergs, Folkertes_ES
dc.contributor.authorSammani, Arjanes_ES
dc.contributor.authorFranaszczyk, Mariaes_ES
dc.contributor.authorAkhtar, Muhammad N.es_ES
dc.contributor.authorCoronado-Albi, Maria Josées_ES
dc.contributor.authorRangel-Sousa, Diegoes_ES
dc.contributor.authorRodriguez-Palomares, Jose F.es_ES
dc.contributor.authorJiménez-Jáimez, Juanes_ES
dc.contributor.authorGarcia-Pinilla, José Manueles_ES
dc.contributor.authorRipoll-Vera, Tomáses_ES
dc.contributor.authorMogollón-Jiménez, Maria Victoriaes_ES
dc.contributor.authorFontalba-Romero, Anaes_ES
dc.contributor.authorGarcia-Medina, Doloreses_ES
dc.contributor.authorPalomino-Doza, Julianes_ES
dc.contributor.authorGonzalo-Calvo, David dees_ES
dc.contributor.authorCicerchia, Marcoses_ES
dc.contributor.authorSalazar-Mendiguchia, Joeles_ES
dc.contributor.authorSalas, Claraes_ES
dc.contributor.authorPankuweit, Sabinees_ES
dc.contributor.authorMorris Hey, Thomases_ES
dc.contributor.authorMogensen, Jenses_ES
dc.contributor.authorBarton, Paul J.es_ES
dc.contributor.authorCharron, Philippees_ES
dc.contributor.authorElliott, Perryes_ES
dc.contributor.authorGarcía-Pavía, Pabloes_ES
dc.date.accessioned2019-02-27T12:31:56Z-
dc.date.available2019-02-27T12:31:56Z-
dc.date.issued2018-11-
dc.identifier.citationJournal of the American College of Cardiology 72(20): 2471-2481 (2018)es_ES
dc.identifier.issn0735-1097-
dc.identifier.urihttp://hdl.handle.net/10261/176842-
dc.description.abstract[Background] The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. [Objectives] This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. [Methods] The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. [Results] At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. [Conclusions] DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations.es_ES
dc.description.sponsorshipThis work was supported by grants from the following institutions: Instituto de Salud Carlos III (ISCIII) (PI14/ 0967, PI15/01551, AC16/0014), CIBERCV (CB16/11/00403), Progreso and Salud Foundation (Junta de Andalucia) (PI-0011/201), Ministry of Economy, Industry and Competitiveness (IJCI-2016-29393), Mutual Medical (Research Award 2017), ERA-CVD Joint Transnational Call 2016 (Genprovic), British Heart Foundation (SP/10/10/28431), Wellcome Trust (107469/Z/15/), NIHR Royal Brompton Cardiovascular Biomedical Research Unit, NIHR Imperial Biomedical Research Center, Health Innovation Challenge Fund award from the Wellcome Trust and Department of Health, U.K. (HICF-R6-373), Danish Heart Foundation (16-R107-A6617), University of Southern Denmark, the Region of Southern Denmark, Odense University Hospital, German Competence Network Heart Failure, (TP9, FKZ 01GI0205), DETECTIN-HF project (ERA-CVD framework), and PROMEX Charitable Foundation. UCL Hospitals NIHR Biomedical Research Center and Netherlands Cardiovascular Research Initiative, an initiative with support of the Dutch Heart Foundation, CVON2015-12 eDETECT and CVON2014-40 DOSIS. The CNIC is supported by the Ministry of Economy, Industry and Competitiveness and the Pro-CNIC Foundation, and is a Severo Ochoa Center of Excellence (SEV-2015-0505). Grants from ISCIII and the Spanish Ministry of Economy and Competitiveness are supported by the Plan Estatal de IþDþI 2013-2016 – European Regional Development Fund (FEDER) “A way of making Europe.” The Hospital Universitario Puerta de Hierro Majadahonda, Hôpital PitiéSalpêtrière, and Saint Bartholomews’ Hospital are members of the European Reference Network for rare, low-prevalence, and complex diseases of the heart (ERN GUARD-Heart). Drs. Ochoa, Cicerchia, and Salazar-Mendiguchia are employees of Health In Code.-
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.relationinfo:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/IJCI-2016-29393es_ES
dc.relationinfo:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SEV-2015-0505es_ES
dc.rightsclosedAccesses_ES
dc.titleDilated cardiomyopathy due to BLC2-associated athanogene 3 (BAG3) mutationses_ES
dc.typeartículoes_ES
dc.identifier.doi10.1016/j.jacc.2018.08.2181-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.1016/j.jacc.2018.08.2181es_ES
dc.contributor.funderInstituto de Salud Carlos IIIes_ES
dc.contributor.funderFundación Progreso y Saludes_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)es_ES
dc.contributor.funderMutual Médicaes_ES
dc.contributor.funderEuropean Research Area Network on Cardiovascular Diseaseses_ES
dc.contributor.funderBritish Heart Foundationes_ES
dc.contributor.funderWellcome Trustes_ES
dc.contributor.funderNational Institute for Health Research (UK)es_ES
dc.contributor.funderDanish Heart Foundationes_ES
dc.contributor.funderUniversity of Southern Denmarkes_ES
dc.contributor.funderOdense University Hospitales_ES
dc.contributor.funderCompetence Network for Heart Failure (Germany)es_ES
dc.contributor.funderDutch Heart Foundationes_ES
dc.contributor.funderEuropean Commissiones_ES
dc.contributor.funderHealth In Codees_ES
dc.relation.csices_ES
oprm.item.hasRevisionno ko 0 false*
dc.identifier.funderhttp://dx.doi.org/10.13039/100004440es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000274es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003329es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100004587es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000780es_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100000272es_ES
dc.identifier.pmid30442290-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
Aparece en las colecciones: (IIBB) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato
accesoRestringido.pdf15,38 kBAdobe PDFVista previa
Visualizar/Abrir
Show simple item record

CORE Recommender

PubMed Central
Citations

52
checked on 17-mar-2024

SCOPUSTM   
Citations

82
checked on 28-mar-2024

WEB OF SCIENCETM
Citations

81
checked on 28-feb-2024

Page view(s)

289
checked on 28-mar-2024

Download(s)

47
checked on 28-mar-2024

Google ScholarTM

Check

Altmetric

Altmetric


Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.