Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/191508
Title: | Natural History of MYH7-Related Dilated Cardiomyopathy |
Author: | De Frutos, Fernando Ochoa, Juan Pablo Navarro Peñalver, Marina Baas, Annette Bjerre, Jesper Vandborg Zorio, Esther Méndez, Irene Lorca, Rebeca Verdonschot, Job A.J. García Granja, Pablo Elpidio Bilinska, Zofia Gimeno Blanes, Juan Ramón Dooijes, Dennis López Ledesma, Bernabé Roche Fortea, Inés Bermejo, Javier Espinosa, Maria Angeles Fernández, Ana Isabel Vilches, Silvia Gómez, Cristina Gómez, Juan Coto, Eliecer Rodríguez Reguero, José Julián Heymans, S.R.B. Brunner, H.G. López Díaz, Javier Truszkowska, Grażyna Ploski, Rafal Chmielewski, Przemysław Johnson, Renee Robles Mezcua, Ainhoa Díaz Expósito, Arancha Pérez Cabeza, Alejandro I. Jiménez Rubio, Clara Payá, Vicente Climent Favilli, Silvia Syrris, Petros Cannie, Douglas Billon, Clarisse Lopez Sainz, Angela Calvo, Margarita Fernández De Bobadilla, Ángela Cacicedo Onaindia Gandarias, Jose Juan Gaztañaga Arantzamendi, Larraitz Zamarreño Golvano, Estibaliz Limeres, Javier Gutiérrez García, Laura Villacorta, Eduardo Haas, Jan Krebsova, Alice Mogensen, Jens Cesar, Sergi Campuzano, Òscar Gutiérrez, Raúl Franco Alvarez Rubio, Jorge Cremer Luengos, David Antoniutti, Guido Caimi Martinez, Fiama Macías, Rosa Jiménez Jáimez, Juan Peña Peña, María Luisa Díez Aja López, Salvador Lucas Acereda, Tania Pino Corada, Blanca Arnáez Piqueras Flores, Jesús Negreira Caamaño, Martin Del Río, Jorge Martinez Mogollón Jiménez, María Victoria Villanueva, Elena Gonzáles, José Luis Fernández, Adrián Toscanini, Ulises Favaloro, Lilian E. Díez, Carlota Hernández Fatkin, Diane Fuentes Cañamero, M. Eugenia García Pinilla, José Manuel García Álvarez, María Girolami, Francesca Barriales Villa, Roberto Díez López, Carles Lopes, Luis R. Wahbi, Karim García Álvarez, Ana Rodríguez Sánchez, Ibon Rekondo Olaetxea, Javier Rodríguez Palomares, José F. Gallego Delgado, María Meder, Benjamin Kubanek, Milos Hansen, Frederikke G. Restrepo Córdoba, María Alejandra Palomino Doza, Julián Ruiz Guerrero, Luis Sarquella Brugada, Georgia Perez Perez, Alberto José Bermúdez Jiménez, Francisco José Ripoll Vera, Tomas Rasmussen, Torsten Bloch Jansen, Mark Sabater Molina, María Elliot, Perry M. Garcia Pavia, Pablo Cabrera Romero, Eva Cobo Marcos, Marta Escobar Lopez, Luis Domínguez, Fernando González López, Esther |
Keywords: | Genètica Miocardiopaties Genetics Myocardiopathies |
Issue Date: | 1-Oct-2022 |
Publisher: | Elsevier BV |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.jacc.2022.07.023 |
It is part of: | Journal of the American College of Cardiology, 2022, vol. 80, issue. 15, p. 1447-1461 |
URI: | http://hdl.handle.net/2445/191508 |
Related resource: | https://doi.org/10.1016/j.jacc.2022.07.023 |
ISSN: | 1558-3597 |
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