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http://hdl.handle.net/10261/176842
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dc.contributor.author | Domínguez, Fernando | es_ES |
dc.contributor.author | Cuenca, Sofía | es_ES |
dc.contributor.author | Bilinska, Zofia | es_ES |
dc.contributor.author | Toro, Rocío | es_ES |
dc.contributor.author | Villard, Eric | es_ES |
dc.contributor.author | Barriales-Villa, Roberto | es_ES |
dc.contributor.author | Ochoa, Juan Pablo | es_ES |
dc.contributor.author | Asselbergs, Folkert | es_ES |
dc.contributor.author | Sammani, Arjan | es_ES |
dc.contributor.author | Franaszczyk, Maria | es_ES |
dc.contributor.author | Akhtar, Muhammad N. | es_ES |
dc.contributor.author | Coronado-Albi, Maria José | es_ES |
dc.contributor.author | Rangel-Sousa, Diego | es_ES |
dc.contributor.author | Rodriguez-Palomares, Jose F. | es_ES |
dc.contributor.author | Jiménez-Jáimez, Juan | es_ES |
dc.contributor.author | Garcia-Pinilla, José Manuel | es_ES |
dc.contributor.author | Ripoll-Vera, Tomás | es_ES |
dc.contributor.author | Mogollón-Jiménez, Maria Victoria | es_ES |
dc.contributor.author | Fontalba-Romero, Ana | es_ES |
dc.contributor.author | Garcia-Medina, Dolores | es_ES |
dc.contributor.author | Palomino-Doza, Julian | es_ES |
dc.contributor.author | Gonzalo-Calvo, David de | es_ES |
dc.contributor.author | Cicerchia, Marcos | es_ES |
dc.contributor.author | Salazar-Mendiguchia, Joel | es_ES |
dc.contributor.author | Salas, Clara | es_ES |
dc.contributor.author | Pankuweit, Sabine | es_ES |
dc.contributor.author | Morris Hey, Thomas | es_ES |
dc.contributor.author | Mogensen, Jens | es_ES |
dc.contributor.author | Barton, Paul J. | es_ES |
dc.contributor.author | Charron, Philippe | es_ES |
dc.contributor.author | Elliott, Perry | es_ES |
dc.contributor.author | García-Pavía, Pablo | es_ES |
dc.date.accessioned | 2019-02-27T12:31:56Z | - |
dc.date.available | 2019-02-27T12:31:56Z | - |
dc.date.issued | 2018-11 | - |
dc.identifier.citation | Journal of the American College of Cardiology 72(20): 2471-2481 (2018) | es_ES |
dc.identifier.issn | 0735-1097 | - |
dc.identifier.uri | http://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.sponsorship | This 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.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.relation | info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/IJCI-2016-29393 | es_ES |
dc.relation | info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SEV-2015-0505 | es_ES |
dc.rights | closedAccess | es_ES |
dc.title | Dilated cardiomyopathy due to BLC2-associated athanogene 3 (BAG3) mutations | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1016/j.jacc.2018.08.2181 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | https://doi.org/10.1016/j.jacc.2018.08.2181 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Fundación Progreso y Salud | es_ES |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | es_ES |
dc.contributor.funder | Mutual Médica | es_ES |
dc.contributor.funder | European Research Area Network on Cardiovascular Diseases | es_ES |
dc.contributor.funder | British Heart Foundation | es_ES |
dc.contributor.funder | Wellcome Trust | es_ES |
dc.contributor.funder | National Institute for Health Research (UK) | es_ES |
dc.contributor.funder | Danish Heart Foundation | es_ES |
dc.contributor.funder | University of Southern Denmark | es_ES |
dc.contributor.funder | Odense University Hospital | es_ES |
dc.contributor.funder | Competence Network for Heart Failure (Germany) | es_ES |
dc.contributor.funder | Dutch Heart Foundation | es_ES |
dc.contributor.funder | European Commission | es_ES |
dc.contributor.funder | Health In Code | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/100004440 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000274 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000272 | es_ES |
dc.identifier.pmid | 30442290 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
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