Natural History of MYH7-Related Dilated Cardiomyopathy

de Frutos, Fernando and Ochoa, Juan Pablo and Navarro-Peñalver, Marina and Baas, Annette and Bjerre, Jesper Vandborg and Zorio, Esther and Méndez, Irene and Lorca, Rebeca and Verdonschot, Job A.J. and García-Granja, Pablo Elpidio and Bilinska, Zofia and Fatkin, Diane and Fuentes-Cañamero, M. Eugenia and García-Pinilla, José M. and García-Álvarez, María I. and Girolami, Francesca and Barriales-Villa, Roberto and Díez-López, Carles and Lopes, Luis R. and Wahbi, Karim and García-Álvarez, Ana and Rodríguez-Sánchez, Ibon and Rekondo-Olaetxea, Javier and Rodríguez-Palomares, José F. and Gallego-Delgado, María and Meder, Benjamin and Kubanek, Milos and Hansen, Frederikke G. and Restrepo-Córdoba, María Alejandra and Palomino-Doza, Julián and Ruiz-Guerrero, Luis and Sarquella-Brugada, Georgia and Perez-Perez, Alberto José and Bermúdez-Jiménez, Francisco José and Ripoll-Vera, Tomas and Rasmussen, Torsten Bloch and Jansen, Mark and Sabater-Molina, Maria and Elliot, Perry M. and Garcia-Pavia, Pablo and Cabrera-Romero, Eva and Cobo-Marcos, Marta and Escobar-Lopez, Luis and Domínguez, Fernando and González-López, Esther and Gimeno-Blanes, Juan Ramón and Dooijes, Dennis and López Ledesma, Bernabé and Roche Fortea, Inés and Bermejo, Javier and Espinosa, Maria Angeles and Fernández, Ana Isabel and Vilches, Silvia and Gómez, Cristina and Gómez, Juan and Coto, Eliecer and Rodríguez Reguero, José Julián and Heymans, S.R.B. and Brunner, H.G. and López-Díaz, Javier and Truszkowska, Grażyna and Ploski, Rafal and Chmielewski, Przemysław and Johnson, Renee and Robles-Mezcua, Ainhoa and Díaz-Expósito, Arancha and Pérez-Cabeza, Alejandro I. and Jiménez-Rubio, Clara and Payá, Vicente Climent and Favilli, Silvia and Syrris, Petros and Cannie, Douglas and Billon, Clarisse and Lopez-Sainz, Angela and Calvo, Margarita and Fernández de Bobadilla, Ángela Cacicedo and Onaindia-Gandarias, Jose Juan and Gaztañaga-Arantzamendi, Larraitz and Zamarreño-Golvano, Estibaliz and Limeres, Javier and Gutiérrez-García, Laura and Villacorta, Eduardo and Haas, Jan and Krebsova, Alice and Mogensen, Jens and Cesar, Sergi and Campuzano, Oscar and Gutiérrez, Raúl Franco and Alvarez-Rubio, Jorge and Cremer-Luengos, David and Antoniutti, Guido and Caimi-Martinez, Fiama and Macías, Rosa and Jiménez-Jáimez, Juan and Peña-Peña, María Luisa and Díez-Aja López, Salvador Lucas and Acereda, Tania Pino and Corada, Blanca Arnáez and Piqueras-Flores, Jesús and Negreira-Caamaño, Martin and Río, Jorge Martinez-del and Mogollón Jiménez, María Victoria and Villanueva, Elena and Gonzáles, José Luis and Fernández, Adrián and Toscanini, Ulises and Favaloro, Lilian E. and Díez, Carlota Hernández (2022) Natural History of MYH7-Related Dilated Cardiomyopathy. Journal of the American College of Cardiology, 80 (15). pp.1447-1461. ISSN 07351097

Full text not available from this repository.
Link to published document:


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.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 02 Mar 2023 01:17
Last Modified: 02 Mar 2023 01:17

Actions (login required)

View Item View Item