Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/191508
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | De Frutos, Fernando | - |
dc.contributor.author | Ochoa, Juan Pablo | - |
dc.contributor.author | Navarro Peñalver, Marina | - |
dc.contributor.author | Baas, Annette | - |
dc.contributor.author | Bjerre, Jesper Vandborg | - |
dc.contributor.author | Zorio, Esther | - |
dc.contributor.author | Méndez, Irene | - |
dc.contributor.author | Lorca, Rebeca | - |
dc.contributor.author | Verdonschot, Job A.J. | - |
dc.contributor.author | García Granja, Pablo Elpidio | - |
dc.contributor.author | Bilinska, Zofia | - |
dc.contributor.author | Gimeno Blanes, Juan Ramón | - |
dc.contributor.author | Dooijes, Dennis | - |
dc.contributor.author | López Ledesma, Bernabé | - |
dc.contributor.author | Roche Fortea, Inés | - |
dc.contributor.author | Bermejo, Javier | - |
dc.contributor.author | Espinosa, Maria Angeles | - |
dc.contributor.author | Fernández, Ana Isabel | - |
dc.contributor.author | Vilches, Silvia | - |
dc.contributor.author | Gómez, Cristina | - |
dc.contributor.author | Gómez, Juan | - |
dc.contributor.author | Coto, Eliecer | - |
dc.contributor.author | Rodríguez Reguero, José Julián | - |
dc.contributor.author | Heymans, S.R.B. | - |
dc.contributor.author | Brunner, H.G. | - |
dc.contributor.author | López Díaz, Javier | - |
dc.contributor.author | Truszkowska, Grażyna | - |
dc.contributor.author | Ploski, Rafal | - |
dc.contributor.author | Chmielewski, Przemysław | - |
dc.contributor.author | Johnson, Renee | - |
dc.contributor.author | Robles Mezcua, Ainhoa | - |
dc.contributor.author | Díaz Expósito, Arancha | - |
dc.contributor.author | Pérez Cabeza, Alejandro I. | - |
dc.contributor.author | Jiménez Rubio, Clara | - |
dc.contributor.author | Payá, Vicente Climent | - |
dc.contributor.author | Favilli, Silvia | - |
dc.contributor.author | Syrris, Petros | - |
dc.contributor.author | Cannie, Douglas | - |
dc.contributor.author | Billon, Clarisse | - |
dc.contributor.author | Lopez Sainz, Angela | - |
dc.contributor.author | Calvo, Margarita | - |
dc.contributor.author | Fernández De Bobadilla, Ángela Cacicedo | - |
dc.contributor.author | Onaindia Gandarias, Jose Juan | - |
dc.contributor.author | Gaztañaga Arantzamendi, Larraitz | - |
dc.contributor.author | Zamarreño Golvano, Estibaliz | - |
dc.contributor.author | Limeres, Javier | - |
dc.contributor.author | Gutiérrez García, Laura | - |
dc.contributor.author | Villacorta, Eduardo | - |
dc.contributor.author | Haas, Jan | - |
dc.contributor.author | Krebsova, Alice | - |
dc.contributor.author | Mogensen, Jens | - |
dc.contributor.author | Cesar, Sergi | - |
dc.contributor.author | Campuzano, Òscar | - |
dc.contributor.author | Gutiérrez, Raúl Franco | - |
dc.contributor.author | Alvarez Rubio, Jorge | - |
dc.contributor.author | Cremer Luengos, David | - |
dc.contributor.author | Antoniutti, Guido | - |
dc.contributor.author | Caimi Martinez, Fiama | - |
dc.contributor.author | Macías, Rosa | - |
dc.contributor.author | Jiménez Jáimez, Juan | - |
dc.contributor.author | Peña Peña, María Luisa | - |
dc.contributor.author | Díez Aja López, Salvador Lucas | - |
dc.contributor.author | Acereda, Tania Pino | - |
dc.contributor.author | Corada, Blanca Arnáez | - |
dc.contributor.author | Piqueras Flores, Jesús | - |
dc.contributor.author | Negreira Caamaño, Martin | - |
dc.contributor.author | Del Río, Jorge Martinez | - |
dc.contributor.author | Mogollón Jiménez, María Victoria | - |
dc.contributor.author | Villanueva, Elena | - |
dc.contributor.author | Gonzáles, José Luis | - |
dc.contributor.author | Fernández, Adrián | - |
dc.contributor.author | Toscanini, Ulises | - |
dc.contributor.author | Favaloro, Lilian E. | - |
dc.contributor.author | Díez, Carlota Hernández | - |
dc.contributor.author | Fatkin, Diane | - |
dc.contributor.author | Fuentes Cañamero, M. Eugenia | - |
dc.contributor.author | García Pinilla, José Manuel | - |
dc.contributor.author | García Álvarez, María | - |
dc.contributor.author | Girolami, Francesca | - |
dc.contributor.author | Barriales Villa, Roberto | - |
dc.contributor.author | Díez López, Carles | - |
dc.contributor.author | Lopes, Luis R. | - |
dc.contributor.author | Wahbi, Karim | - |
dc.contributor.author | García Álvarez, Ana | - |
dc.contributor.author | Rodríguez Sánchez, Ibon | - |
dc.contributor.author | Rekondo Olaetxea, Javier | - |
dc.contributor.author | Rodríguez Palomares, José F. | - |
dc.contributor.author | Gallego Delgado, María | - |
dc.contributor.author | Meder, Benjamin | - |
dc.contributor.author | Kubanek, Milos | - |
dc.contributor.author | Hansen, Frederikke G. | - |
dc.contributor.author | Restrepo Córdoba, María Alejandra | - |
dc.contributor.author | Palomino Doza, Julián | - |
dc.contributor.author | Ruiz Guerrero, Luis | - |
dc.contributor.author | Sarquella Brugada, Georgia | - |
dc.contributor.author | Perez Perez, Alberto José | - |
dc.contributor.author | Bermúdez Jiménez, Francisco José | - |
dc.contributor.author | Ripoll Vera, Tomas | - |
dc.contributor.author | Rasmussen, Torsten Bloch | - |
dc.contributor.author | Jansen, Mark | - |
dc.contributor.author | Sabater Molina, María | - |
dc.contributor.author | Elliot, Perry M. | - |
dc.contributor.author | Garcia Pavia, Pablo | - |
dc.contributor.author | Cabrera Romero, Eva | - |
dc.contributor.author | Cobo Marcos, Marta | - |
dc.contributor.author | Escobar Lopez, Luis | - |
dc.contributor.author | Domínguez, Fernando | - |
dc.contributor.author | González López, Esther | - |
dc.date.accessioned | 2022-12-13T17:01:36Z | - |
dc.date.available | 2022-12-13T17:01:36Z | - |
dc.date.issued | 2022-10-01 | - |
dc.identifier.issn | 1558-3597 | - |
dc.identifier.uri | http://hdl.handle.net/2445/191508 | - |
dc.description.abstract | BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. | - |
dc.format.extent | 15 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier BV | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1016/j.jacc.2022.07.023 | - |
dc.relation.ispartof | Journal of the American College of Cardiology, 2022, vol. 80, issue. 15, p. 1447-1461 | - |
dc.relation.uri | https://doi.org/10.1016/j.jacc.2022.07.023 | - |
dc.rights | cc by-nc-nc (c) De Frutos, Fernando et al., 2022 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Genètica | - |
dc.subject.classification | Miocardiopaties | - |
dc.subject.other | Genetics | - |
dc.subject.other | Myocardiopathies | - |
dc.title | Natural History of MYH7-Related Dilated Cardiomyopathy | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2022-12-07T12:08:18Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 36007715 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
1-s2.0-S0735109722057138-main.pdf | 1.33 MB | Adobe PDF | View/Open |
This item is licensed under a
Creative Commons License