RT Journal Article
T1 Natural History of MYH7-Related Dilated Cardiomyopathy.
A1 de Frutos, Fernando
A1 Ochoa, Juan Pablo
A1 Navarro-Peñalver, Marina
A1 Baas, Annette
A1 Bjerre, Jesper Vandborg
A1 Zorio, Esther
A1 Méndez, Irene
A1 Lorca, Rebeca
A1 Verdonschot, Job A J
A1 García-Granja, Pablo Elpidio
A1 Bilinska, Zofia
A1 Fatkin, Diane
A1 Fuentes-Cañamero, M Eugenia
A1 García-Pinilla, José M
A1 García-Álvarez, María I
A1 Girolami, Francesca
A1 Barriales-Villa, Roberto
A1 Díez-López, Carles
A1 Lopes, Luis R
A1 Wahbi, Karim
A1 García-Álvarez, Ana
A1 Rodríguez-Sánchez, Ibon
A1 Rekondo-Olaetxea, Javier
A1 Rodríguez-Palomares, José F
A1 Gallego-Delgado, María
A1 Meder, Benjamin
A1 Kubanek, Milos
A1 Hansen, Frederikke G
A1 Restrepo-Córdoba, María Alejandra
A1 Palomino-Doza, Julián
A1 Ruiz-Guerrero, Luis
A1 Sarquella-Brugada, Georgia
A1 Perez-Perez, Alberto José
A1 Bermúdez-Jiménez, Francisco José
A1 Ripoll-Vera, Tomas
A1 Rasmussen, Torsten Bloch
A1 Jansen, Mark
A1 Sabater-Molina, Maria
A1 Elliot, Perry M
A1 Garcia-Pavia, Pablo
K1 MYH7
K1 dilated cardiomyopathy
K1 genetics
AB 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  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.
PB Elsevier Inc.
YR 2022
FD 2022-07-01
LK http://hdl.handle.net/10668/22283
UL http://hdl.handle.net/10668/22283
LA en
NO de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, et al. European Genetic Cardiomyopathies Initiative Investigators. Natural History of MYH7-Related Dilated Cardiomyopathy. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461.
NO This study has been funded by Instituto de Salud Carlos III (ISCIII)through the projects PI18/0004, PI20/0320, and PT17/0015/0043(cofunded by European Regional Development Fund/European SocialFund “A way to make Europe”/“Investing in your future”). TheCentro Nacional de Investigaciones Cardiovasculares (CNIC) is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the SeveroOchoa Centers of Excellence program (CEX2020-001041-S). TheHospital Universitario Puerta de Hierro, the Hospital Sant Joan deDéu, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low PrevalenceComplex Diseases of the Heart. Dr de Frutos receives grant supportfrom ISCIII (CM20/00101). Genetic examinations of Polish patientswere funded with DETECTIN-HF grant from the ERA-CVD framework,NCBiR. Dr Baas has received funding from CVON2020B005 DOUBLEDOSE, Dutch Heart Foundation (Dekker 2015T041). Dr Fatkin has received funding from Victor Chang Cardiac Research Institute andNSW Health. Dr Lopes is funded by an MRC UK Clinical AcademicResearch Partnership award (MR/T005181/1). Dr Meder has receivedfunding from the Deutsches Zentrum für Herz-Kreislauf-Forschung(German Center for Cardiovascular Research) and Informatics forLife (Klaus Tschira Foundation). Dr Kubanek has received grantsupport from the Ministry of Health, Czech Republic (NV19-08-00122)and IPO (Institute for Clinical and Experimental Medicine–IKEM, IN00023001). All other authors have reported that they have norelationships relevant to the contents of this paper to disclose.
DS RISalud
RD Apr 17, 2025