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Natural History of MYH7-Related Dilated Cardiomyopathy

2022; Elsevier BV; Volume: 80; Issue: 15 Linguagem: Inglês

10.1016/j.jacc.2022.07.023

1558-3597

Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro Peñalver, Annette F. Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia T. Bilińska, Diane Fatkin, María Eugenia Fuentes‐Cañamero, José Manuel García‐Pinilla, Ana García‐Álvarez, Francesca Girolami, Roberto Barriales‐Villa, Carles Díez‐López, Luís R. Lopes, Karim Wahbi, Ana García‐Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez‐Palomares, María Gallego‐Delgado, Benjamin Meder, Miloš Kubánek, Frederikke G. Hansen, Maria Alejandra Restrepo‐Córdoba, Julián Palomino-Doza, Luis Ruiz‐Guerrero, Geòrgia Sarquella-Brugada, Alberto José Perez-Perez, Francisco Bermúdez-Jiménez, Tomás Ripoll‐Vera, Torsten B. Rasmussen, M. Jansen, María Sabater‐Molina, Perry M Elliot, Pablo García‐Pavía, Eva Cabrera-Romero, Marta Cobo Marcos, Luis Escobar-López, Fernándo Domínguez, Esther González-López, Juan R. Gimeno, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, María Ángeles Espinosa, Ana I. Fernández, Silvia Vilches, Cristina Mateo Gómez, Juan Gómez, Eliécer Coto, J.J.R. Reguero, Stéphane Heymans, Han G. Brunner, Javier López, Grażyna Truszkowska, Rafał Płoski, Przemysław Chmielewski, Renée Johnson, Ainhoa Robles Mezcua, Arancha Díaz-Expósito, Alejandro Pérez Cabeza, Clara Jiménez-Rubio, Vicente Climent, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Ángela López‐Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres Freire, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsová, Jens Mogensen, Sergi César, Óscar Campuzano, Raúl Franco‐Gutiérrez, Jorge Álvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martínez, Rosa Macías, Juan Jiménez‐Jáimez, María Luisa Peña‐Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras‐Flores, Martín Negreira Caamaño, Jorge Martínez‐Del Rio, María Victoria Mogollón Jiménez, Elena Villanueva, José L. Gonzáles, Adrián Fernández, Ulises Toscanini, Lilian E. Favaloro, Carlota Hernández Díez,

Cardiovascular Effects of Exercise

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.We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.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.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.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.