Natural History of MYH7-Related Dilated Cardiomyopathy

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  • Fernando de Frutos, Universidad Autónoma de Madrid, Instituto de Salud Carlos III, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)
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  • Juan Pablo Ochoa, Universidad Autónoma de Madrid, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Instituto de Salud Carlos III
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  • Marina Navarro-Peñalver, Instituto de Salud Carlos III, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Hospital Virgen de la Arrixaca
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  • Annette Baas, Utrecht University
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  • Jesper Vandborg Bjerre
  • Esther Zorio, Instituto de Salud Carlos III, University of Valencia
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  • Irene Méndez, Instituto de Salud Carlos III, Complutense University of Madrid
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  • Rebeca Lorca, University of Oviedo, Instituto de Investigación Sanitaria del Principado de Asturias
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  • Job A.J. Verdonschot, Maastricht University
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  • Pablo Elpidio García-Granja, Instituto de Salud Carlos III, Hospital Clínico Universitario de Valladolid
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  • Zofia Bilinska, Institute of Cardiology
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  • Diane Fatkin, Victor Chang Cardiac Research Institute, University of New South Wales, St. Vincent's Hospital Sydney
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  • M. Eugenia Fuentes-Cañamero, Complejo Hospitalario Universitario de Badajoz
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  • José M. García-Pinilla, Instituto de Salud Carlos III, Hospital Universitari Virgen de la Victoria
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  • María I. García-Álvarez, Hospital General Universitario de Alicante, Instituto de Investigación Sanitaria y Biomédica de Alicante
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  • Francesca Girolami, Azienda Ospedaliero Universitaria Meyer
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  • Roberto Barriales-Villa, Instituto de Salud Carlos III, Hospital Juan Canalejo
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  • Carles Díez-López, University of Barcelona, L'Hospitalet de Llobregat
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  • Luis R. Lopes, University College London, Barts Health NHS Trust
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  • Karim Wahbi, Universite Paris 5, Paris Cardiovascular Research Center
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  • Ana García-Álvarez, Instituto de Salud Carlos III, Instituto de Salud Carlos III, University of Barcelona
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  • Ibon Rodríguez-Sánchez, Osakidetza-IIS Biocruces-Bizkaia-Hospital Universitario Galdakao-Usansolo
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  • Javier Rekondo-Olaetxea, Hospital de Basurto
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  • José F. Rodríguez-Palomares, Instituto de Salud Carlos III, Autonomous University of Barcelona
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  • María Gallego-Delgado, Instituto de Salud Carlos III, Hospital Clínico Universitario de Salamanca, Salamanca Institute for Biomedical Research
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  • Benjamin Meder, Heidelberg University , Stanford University
  • ,
  • Milos Kubanek, Institute for Clinical and Experimental Medicine
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  • Frederikke G. Hansen, Syddansk Universitet
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  • María Alejandra Restrepo-Córdoba, Complutense University of Madrid
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  • Julián Palomino-Doza, Instituto de Salud Carlos III, Complutense University of Madrid
  • ,
  • Luis Ruiz-Guerrero, Hospital Universitario Marques de Valdecilla
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  • Georgia Sarquella-Brugada, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), SJD Barcelona Children's Hospital, Institut de Recerca de Sant Joan de Déu, University of Girona
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  • Alberto José Perez-Perez, Instituto de Investigación Sanitaria de Santiago de Compostela
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  • Francisco José Bermúdez-Jiménez, Hospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitaria ibs.GRANADA
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  • Tomas Ripoll-Vera, Hospital Universitario Son Llàtzer
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  • Torsten Bloch Rasmussen
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  • Mark Jansen, Utrecht University
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  • Maria Sabater-Molina, Instituto de Salud Carlos III, Hospital Virgen de la Arrixaca, University of Murcia
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  • Perry M. Elliot, University College London, Barts Health NHS Trust
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  • Pablo Garcia-Pavia, Universidad Autónoma de Madrid, Instituto de Salud Carlos III, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Francisco de Vitoria University
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  • European Genetic Cardiomyopathies Initiative Investigators

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.

OriginalsprogEngelsk
TidsskriftJournal of the American College of Cardiology
Vol/bind80
Nummer15
Sider (fra-til)1447-1461
ISSN0735-1097
DOI
StatusUdgivet - okt. 2022

Bibliografisk note

Funding Information:
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 Social Fund “A way to make Europe”/“Investing in your future”). The Centro Nacional de Investigaciones Cardiovasculares (CNIC) is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). The Hospital Universitario Puerta de Hierro, the Hospital Sant Joan de Déu, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Dr de Frutos receives grant support from ISCIII (CM20/00101). Genetic examinations of Polish patients were funded with DETECTIN-HF grant from the ERA-CVD framework, NCBiR. Dr Baas has received funding from CVON2020B005 DOUBLE-DOSE, Dutch Heart Foundation (Dekker 2015T041). Dr Fatkin has received funding from Victor Chang Cardiac Research Institute and NSW Health. Dr Lopes is funded by an MRC UK Clinical Academic Research Partnership award (MR/T005181/1). Dr Meder has received funding from the Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research) and Informatics for Life (Klaus Tschira Foundation). Dr Kubanek has received grant support from the Ministry of Health, Czech Republic (NV19-08-00122) and IPO (Institute for Clinical and Experimental Medicine–IKEM, IN 00023001). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

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© 2022 The Authors

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