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Natural history of MYH7-related dilated cardiomyopathy

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 prog...

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Main Authors: Frutos, Fernando de (Author) , Ochoa, Juan Pablo (Author) , Navarro-Peñalver, Marina (Author) , Baas, Annette (Author) , Bjerre, Jesper Vandborg (Author) , Zorio, Esther (Author) , Méndez, Irene (Author) , Lorca, Rebeca (Author) , Verdonschot, Job A. J. (Author) , García-Granja, Pablo Elpidio (Author) , Bilinska, Zofia (Author) , Fatkin, Diane (Author) , Fuentes-Cañamero, M. Eugenia (Author) , García-Pinilla, José M. (Author) , García-Álvarez, María I. (Author) , Girolami, Francesca (Author) , Barriales-Villa, Roberto (Author) , Díez-López, Carles (Author) , Lopes, Luis R. (Author) , Wahbi, Karim (Author) , García-Álvarez, Ana (Author) , Rodríguez-Sánchez, Ibon (Author) , Rekondo-Olaetxea, Javier (Author) , Rodríguez-Palomares, José F. (Author) , Gallego-Delgado, María (Author) , Meder, Benjamin (Author) , Kubanek, Milos (Author) , Hansen, Frederikke G. (Author) , Restrepo-Córdoba, María Alejandra (Author) , Palomino-Doza, Julián (Author) , Ruiz-Guerrero, Luis (Author) , Sarquella-Brugada, Georgia (Author) , Perez-Perez, Alberto José (Author) , Bermúdez-Jiménez, Francisco José (Author) , Ripoll-Vera, Tomas (Author) , Rasmussen, Torsten Bloch (Author) , Jansen, Mark (Author) , Sabater-Molina, Maria (Author) , Elliot, Perry M. (Author)
Format: Article (Journal)
Language:English
Published: 22 August 2022
In: Journal of the American College of Cardiology
Year: 2022, Volume: 80, Issue: 15, Pages: 1447-1461
ISSN:1558-3597
DOI:10.1016/j.jacc.2022.07.023
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jacc.2022.07.023
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0735109722057138
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Author Notes:Fernando de Frutos, MD, Juan Pablo Ochoa, MD, PHD, Marina Navarro-Peñalver, MD, Annette Baas, MD, PHD, Jesper Vandborg Bjerre, MD, Esther Zorio, MD, PHD, Irene Méndez, MD, Rebeca Lorca, MD, Job A.J. Verdonschot, MD, PHD, Pablo Elpidio García-Granja, MD, PHD, Zofia Bilinska, MD, PHD, Diane Fatkin, MD, M. Eugenia Fuentes-Cañamero, MD, José M. García-Pinilla, MD, PHD, María I. García-Álvarez, MD, Francesca Girolami, PHD, Roberto Barriales-Villa, MD, PHD, Carles Díez-López, MD, Luis R. Lopes, MD, Karim Wahbi, MD, Ana García-Álvarez, MD, PHD, Ibon Rodríguez-Sánchez, MD, Javier Rekondo-Olaetxea, MD, José F. Rodríguez-Palomares, MD, PHD, María Gallego-Delgado, MD, PHD, Benjamin Meder, MD, PHD, Milos Kubanek, MD, PHD, Frederikke G. Hansen, MD, María Alejandra Restrepo-Córdoba, MD, Julián Palomino-Doza, MD, Luis Ruiz-Guerrero, MD, Georgia Sarquella-Brugada, MD, PHD, Alberto José Perez-Perez, MD, Francisco José Bermúdez-Jiménez, MD, PHD,Tomas Ripoll-Vera, MD, PHD, Torsten Bloch Rasmussen, MD, PHD, Mark Jansen, MD, Maria Sabater-Molina, PHD, Perry M. Elliot, MD, Pablo Garcia-Pavia, MD, PHD, on behalf of the European Genetic Cardiomyopathies Initiative Investigators
Description
Summary: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 Description:Gesehen am 25.01.2023
Physical Description:Online Resource
ISSN:1558-3597
DOI:10.1016/j.jacc.2022.07.023

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