Natural History of MYH7-related Dilated Cardiomyopathy

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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 Deu, 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 DOUBLEDOSE, 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 fur 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.

Analysis of institutional authors

Campuzano Larrea, OscarAuthorDíez-López CAuthorGarcía-Alvarez AAuthor

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Article

Publicated to:Journal Of The American College Of Cardiology. 80 (15): 1447-1461 - 2022-10-11 80(15), DOI: 10.1016/j.jacc.2022.07.023

Authors: de Frutos, Fernando; Pablo Ochoa, Juan; Navarro-Penalver, Marina; Baas, Annette; Bjerre, Jesper Vandborg; Zorio, Esther; Mendez, Irene; Lorca, Rebeca; Verdonschot, Job A J; Verdonschot, Job A J; Elpidio Garcia-Granja, Pablo; Bilinska, Zofia; Fatkin, Diane; Fuentes-Canamero, M Eugenia; Fuentes-Canamero, M Eugenia; Garcia-Pinilla, Jose M; Garcia-Pinilla, Jose M; Garcia-Alvarez, Maria I; Garcia-Alvarez, Maria I; Girolami, Francesca; Barriales-Villa, Roberto; Diez-Lopez, Carles; Lopes, Luis R; Lopes, Luis R; Wahbi, Karim; Garcia-Alvarez, Ana; Rodriguez-Sanchez, Ibon; Rekondo-Olaetxea, Javier; Rodriguez-Palomares, Jose F; Rodriguez-Palomares, Jose F; Gallego-Delgado, Maria; Meder, Benjamin; Kubanek, Milos; Hansen, Frederikke G; Hansen, Frederikke G; Alejandra Restrepo-Cordoba, Maria; Palomino-Doza, Julian; Ruiz-Guerrero, Luis; Sarquella-Brugada, Georgia; Jose Perez-Perez, Alberto; Jose Bermudez-Jimenez, Francisco; Ripoll-Vera, Tomas; Rasmussen, Torsten Bloch; Jansen, Mark; Sabater-Molina, Maria; Elliot, Perry M; Elliot, Perry M; Garcia-Pavia, Pablo

Affiliations

Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark - Author

Aarhus Univ Hosp, Dept Pediat, Aarhus, Denmark - Author

Bellvitge Biomed Res Inst, Bio Heart Cardiovasc Dis Res Grp, Lhospitalet De Llobregat, Spain - Author

Bellvitge Univ Hosp, Adv Heart Failure & Heart Transplant Unit, Cardiol Dept, Barcelona, Spain - Author

Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. - Author

Centro Nacl Invest Cardiovasc, Madrid, Spain - Author

CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain - Author

Cochin Hosp, AP HP, Dept Cardiol, Paris, France - Author

Complejo Asistencial Univ Salamanca, Dept Cardiol, CSUR Cardiopatias Familiares, Salamanca, Spain - Author

Complejo Hosp Univ Badajoz, Badajoz, Spain - Author

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. - Author

European Reference Network Rare & Low Prevalence, Amsterdam, Netherlands - Author

Hosp Clin San Carlos, Inst Invest Sanitaria Hosp Clin San Carlos, Inst Cardiovasc, Cardiol Dept, Madrid, Spain - Author

Hosp Clin Univ Valladolid, Inst Ciencias Corazon, Dept Cardiol, Valladolid, Spain - Author

Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Inherited Cardiovasc Dis Program, Madrid, Spain - Author

Hosp Sant Joan, Arrhythm Inherited Cardiac Dis & Sudden Death Uni, Barcelona, Spain - Author

Hosp Univ & Politcn La Fe, Inst Invest Sanitaria La Fe, CaFaMuSMe Res Grp, Inherited Cardiac Dis & Sudden Death Unit,Dept Ca, Valencia, Spain - Author

Hosp Univ 12 Octubre, Inst Invest 12, Dept Cardiol, Madrid, Spain - Author

Hosp Univ Basurto, Dept Cardiol, Bilbao, Spain - Author

Hosp Univ Lucus Augusti, Dept Cardiol, Inst Invest Sanitaria Santiago Compostela IDI, Lugo, Spain - Author

Hosp Univ Marqus Valdecilla, Dept Cardiol, Santander, Spain - Author

Hosp Univ Puerta Hierro, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, IDIPHISA, Madrid, Spain - Author

Hosp Univ Son Llatzer, IdISBa, Palma De Mallorca, Spain - Author

Hosp Univ Virgen Arrixaca, Dept Cardiol, Inherited Cardiac Dis Unit, El Palmar Murcia, Spain - Author

Hosp Univ Virgen Ias Nieves, Cardiol Dept, Granada, Spain - Author

Hosp Univ Virgen Victoria, Unidad Insu ficiencia Cardiaca Cardiopatias Famil, Serv Cardiol, IBIMA, Malaga, Spain - Author

IMIB Univ Murcia, Labo Cardiogenet, Murcia, Spain - Author

Inst Clin & Expt Med, Dept Cardiol, Prague, Czech Republic - Author

Inst Invest Biomed Salamanca, Salamanca, Spain - Author

Inst Invest Biosanitaria Ibs Granada, Granada, Spain - Author

Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain - Author

Inst Invest Sanitaria Principado Asturias, ISPA, Oviedo, Spain - Author

Inst Investigac Sanitaria Biomed Alicante, Alicante, Spain - Author

Inst Recerca Sant Joan de Deu, Dept Cardiol, Arritmies Cardiol Gent & Mort Sobtada, Barcelona, Spain - Author

Inst Salud Carlos III, CIBER Cardiovasc, Madrid, Spain - Author

Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain. - Author

Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands - Author

Meyer Univ Hosp Florence, Cardiol Unit, Florence, Italy - Author

Odense Univ Hosp, Dept Cardiol, Odense, Denmark - Author

Osaki detza IIS Biocruces Bizkaia Hosp Univ Galda, Dept Cardiol, UPV EHU, Galdakao, Spain - Author

Paris Cardiovasc Res Ctr, INSERM A Unit 970, Paris, France - Author

St Bartholomews Hosp, Barts Heart Ctr, London, England - Author

St Vincents Hosp, Cardiol Dept, Sydney, NSW, Australia - Author

Stanford Med Sch, Dept Genet, Genome Technol Ctr Stanford, Stanford, CA USA - Author

UCL, Inst Cardiovasc Sci, London, England - Author

Unidad Cardiopatias Familiares Insu ficiencia Car, Alicante, Spain - Author

Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain. - Author

Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland. - Author

Unit Screening Victor Chang Cardiac Res Inst, Sydney, NSW, Australia - Author

Univ A Coruna, Complexo Hosp Univ Corulla, Inst Invest Biomed Corulla, Unidad Cardiopatias Familiares,Serv Galego Saude, A Corulla, Spain - Author

Univ Autonoma Barcelona, Vall Hebron Inst Recerca, Hosp Univ Vall Hebron, Dept Cardiol,Cardiovasc Dis Unit, Barcelona, Spain - Author

Univ Barcelona, Hosp Clin Barcelona, Cardiol Dept, IDIBAPS, Barcelona, Spain - Author

Univ Francisco Vitoria, Pozuelo De Alarcon, Spain - Author

Univ Girona, Sch Med, Med Sci Dept, Girona, Spain - Author

Univ Heidelberg Hosp, Inst Cardiomyopathies Heidelberg, Dept Cardiol Angiol & Pneumol, Heidelberg, Germany - Author

Univ Hosp, Area Corazon, Oviedo, Spain - Author

Univ Hosp, Dept Mol Genet Cent Asturias, Unidad Referencia Cardiopatias Familiares HUCA, Oviedo, Spain - Author

Univ Med Ctr Utrecht, Div Labs Pharm & Biomed Genet, Dept Genet, Utrecht, Netherlands - Author

Univ Oviedo, Dept Morfol & Biol Celular, Oviedo, Spain - Author

UNSW Sydney, St Vincents Clin Sch, Fac Med, Sydney, NSW, Australia - Author

Victor Chang Cardiac Res Inst, Mol Cardiol Div, Sydney, NSW, Australia - Author

Abstract

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. © 2022 The Authors

Keywords

classificationgeneticsgenotypehypertrophic cardiomyopathyinsightsmutationsmyh7Dilated cardiomyopathyGeneticsMyh7Ventricular non-compaction

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal Of The American College Of Cardiology due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position 4/143, thus managing to position itself as a Q1 (Primer Cuartil), in the category Cardiac & Cardiovascular Systems. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 3.61. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

Field Citation Ratio (FCR) from Dimensions: 30.83 (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-19, the following number of citations:

WoS: 30
Europe PMC: 13
OpenCitations: 34

Impact and social visibility

Leadership analysis of institutional authors