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dc.contributor.author | Cabrera-Romero, Eva | |
dc.contributor.author | Ochoa, Juan Pablo | |
dc.contributor.author | Barriales-Villa, Roberto | |
dc.contributor.author | Bermúdez-Jiménez, Francisco José | |
dc.contributor.author | Climent-Payá, Vicente | |
dc.contributor.author | Zorio, Esther | |
dc.contributor.author | Espinosa, María Angeles | |
dc.contributor.author | Gallego-Delgado, María | |
dc.contributor.author | Navarro-Peñalver, Marina | |
dc.contributor.author | Arana-Achaga, Xabier | |
dc.contributor.author | Piqueras-Flores, Jesús | |
dc.contributor.author | Espejo-Bares, Victoria | |
dc.contributor.author | Rodríguez-Palomares, José F | |
dc.contributor.author | Lacuey-Lecumberri, Gemma | |
dc.contributor.author | López, Javier | |
dc.contributor.author | Tiron, Coloma | |
dc.contributor.author | Peña-Peña, María Luisa | |
dc.contributor.author | García-Pinilla, Jose M | |
dc.contributor.author | Lorca, Rebeca | |
dc.contributor.author | Ripoll-Vera, Tomas | |
dc.contributor.author | Díez-López, Carles | |
dc.contributor.author | Mogollon, María Victoria | |
dc.contributor.author | García-Álvarez, Ana | |
dc.contributor.author | Martínez-Dolz, Luis | |
dc.contributor.author | Brion, María | |
dc.contributor.author | Larrañaga-Moreira, Jose María | |
dc.contributor.author | Jiménez-Jáimez, Juan | |
dc.contributor.author | García-Álvarez, María Isabel | |
dc.contributor.author | Vilches, Silvia | |
dc.contributor.author | Villacorta, Eduardo | |
dc.contributor.author | Sabater-Molina, María | |
dc.contributor.author | Solla-Ruiz, Itziar | |
dc.contributor.author | Royuela, Ana | |
dc.contributor.author | Domínguez, Fernando | |
dc.contributor.author | Mirelis, Jesús G | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.date.accessioned | 2024-07-03T09:43:38Z | |
dc.date.available | 2024-07-03T09:43:38Z | |
dc.date.issued | 2024-04-30 | |
dc.identifier.citation | J Am Coll Cardiol. 2024 Apr 30;83(17):1640-1651 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/19930 | |
dc.description.abstract | BACKGROUND Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. OBJECTIVES This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. METHODS The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers. RESULTS After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). CONCLUSIONS Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM. | es_ES |
dc.description.sponsorship | This study was funded by the Spanish Society of Cardiology (Grant in Inherited Cardiac Diseases 2022) and the Instituto de Salud Carlos III through the projects “PI18/0004, PI20/0320” (Co-funded by European Regional Development Fund/European Social Fund “A way to make Europe”/“Investing in your future”). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). The Hospital Universitario Puerta de Hierro, Hospital Clínic, Hospital Vall Hebron, Hospital Virgen del Rocío, Hospital Universitario Gregorio Marañon, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. The authors have reported that they have no relationships relevant to the contents of this paper to disclose. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Cardiomyopathy, Dilated | es_ES |
dc.subject.mesh | Genotype | es_ES |
dc.subject.mesh | Penetrance | es_ES |
dc.subject.mesh | Adult | es_ES |
dc.subject.mesh | Female | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Male | es_ES |
dc.subject.mesh | Middle Aged | es_ES |
dc.subject.mesh | Young Adult | es_ES |
dc.subject.mesh | Connectin | es_ES |
dc.subject.mesh | Electrocardiography | es_ES |
dc.subject.mesh | Follow-Up Studies | es_ES |
dc.subject.mesh | Spain | es_ES |
dc.subject.mesh | Retrospective Studies | es_ES |
dc.title | Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 38658103 | es_ES |
dc.format.volume | 83 | es_ES |
dc.format.number | 17 | es_ES |
dc.format.page | 1640 | es_ES |
dc.identifier.doi | 10.1016/j.jacc.2024.02.036 | es_ES |
dc.contributor.funder | Sociedad Española de Cardiología | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Fundación ProCNIC | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1558-3597 | es_ES |
dc.relation.publisherversion | 10.1016/j.jacc.2024.02.036 | es_ES |
dc.identifier.journal | Journal of the American College of Cardiology | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI18/0004 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI20/0320 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020-001041-S | es_ES |