ArticleJournal of the American College of Cardiology2022
Natural History of MYH7-Related Dilated Cardiomyopathy.
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Article in Journal of the American College of Cardiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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60citing papers in PubMed, 2 pooled it
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60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Diagnosis and management of dilated cardiomyopathy: a systematic review of clinical practice guidelines and recommendations.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- Research landscape of genetics in dilated cardiomyopathy: insight from a bibliometric analysis.Frontiers in cardiovascular medicine · 2024Pooled it
- Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study.Circulation · 2023Trial
- Rapidly Progressive Infantile Dilated Cardiomyopathy in Long-Olsen-Distelmaier Syndrome Associated withGenes · 2026Article
- Genetic Testing Yield for Dilated Cardiomyopathy in a Single Lithuanian Center.Diagnostics (Basel, Switzerland) · 2026Article
- Utility of genetic screening for the prediction of severe arrhythmic outcomes in mitral valve prolapse.medRxiv : the preprint server for health sciences · 2026Article
- Prevalence and Clinical Impact of Pathogenic Variants in Cardiomyopathy Genes Among Individuals with Cardiac Conduction Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Dynamics of the β-cardiac myosin auto-inhibited state explain cardiomyopathy pathogenesis.Nature communications · 2026Article
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- Identification of disease-associated gene expression signatures for mechanistic insights and drug prediction in dilated cardiomyopathy-induced heart failure.Molecular and cellular biochemistry · 2026Article
- Digenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report.European heart journal. Case reports · 2026Article
- A song of heads and tails: myosin II conformational regulation and filament dynamics shape force generation in non-muscle cells.Biophysical reviews · 2026Review
- Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.The Journal of clinical investigation · 2026Article
- Potential Contribution ofCardiology research and practice · 2026Article
- The Pathogenic Role of the DNA Double-Stranded Breaks in Hereditary Cardiomyopathies.Heart failure clinics · 2026Review
- Research progress on targeting autophagy pathways with medicinal plants and their active metabolites for the treatment of heart failure.Frontiers in pharmacology · 2026Review
- Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.European heart journal · 2025Article
- Pathogenic glycosyltransferase genes and potential therapeutic drugs in pressure overload-induced heart failure.ESC heart failure · 2025Article
- Clinical care of family members of patients with dilated cardiomyopathy.European heart journal · 2025Article
- Predictive value of ambulatory ECG monitoring for malignant arrhythmic events in genetic dilated cardiomyopathy.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
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41 authors at 20 institutions in 10 countries.
Fernando de FrutosHeart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain; CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, the Netherlands.
Juan Pablo OchoaHeart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, the Netherlands; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.
Marina Navarro-PeñalverCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, the Netherlands; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, El Palmar (Murcia), Spain.
Annette BaasDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Jesper Vandborg BjerreDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
Esther ZorioCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Universitario y Politécnico La Fe, CaFaMuSMe Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Irene MéndezCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Inherited Cardiovascular Disease Program, Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain; Instituto de Investigación sanitaria Gregorio Marañón, Madrid, Spain.
Rebeca LorcaÁrea del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, Unidad de Referencia de Cardiopatías Familiares-HUCA, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, Oviedo, Spain; Departamento de Morfología y Biología Celular, Universidad de Oviedo, Oviedo, Spain.
Job A J VerdonschotDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Pablo Elpidio García-GranjaCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Cardiology Department, Instituto de Ciencias del Corazón, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
Zofia BilinskaUnit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland.
Diane FatkinMolecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia; Cardiology Department, St Vincent's Hospital, Sydney, New South Wales, Australia.
M Eugenia Fuentes-CañameroComplejo Hospitalario Universitario de Badajoz, Badajoz, Spain.
José M García-PinillaCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain.
María I García-ÁlvarezUnidad de Cardiopatías Familiares e Insuficiencia Cardiaca. Hospital General Universitario de Alicante, Alicante, Spain; Instituto de Investigación Sanitaria y Biomédica de Alicante, Alicante, Spain.
Francesca GirolamiCardiology Unit, Meyer University Hospital Florence, Florence, Italy.
Roberto Barriales-VillaCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde, Universidade da Coruña, A Coruña, Spain.
Carles Díez-LópezAdvanced Heart Failure and Heart Transplant Unit, Cardiology Department, Bellvitge University Hospital, L'Hospitalet de Llobregat, Barcelona, Spain; Bio-Heart Cardiovascular Diseases Research Group, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, Spain.
Luis R LopesInstitute of Cardiovascular Science, University College London, London, United Kingdom; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom.
Karim WahbiAP-HP, Cochin Hospital, Cardiology Department, Paris, France; Paris Cardiovascular Research Center, INSERM A Unit 970, Paris, France.
Ana García-ÁlvarezCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain; Cardiology Department, Hospital Clínic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
Ibon Rodríguez-SánchezOsakidetza-IIS Biocruces-Bizkaia-Hospital Universitario Galdakao-Usansolo, UPV/EHU, Department of Cardiology, Galdakao, Spain.
Javier Rekondo-OlaetxeaDepartment of Cardiology, Hospital Universitario Basurto, Bilbao, Spain.
José F Rodríguez-PalomaresCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Cardiovascular Diseases Unit, Department of Cardiology, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.
María Gallego-DelgadoCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Department of Cardiology, CSUR Cardiopatías Familiares, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain; Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
Benjamin MederInstitute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, Heidelberg, Germany; Genome Technology Center Stanford, Department of Genetics, Stanford Medical School, Stanford, California, USA.
Milos KubanekDepartment of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Frederikke G HansenDepartment of Cardiology, Odense University Hospital, Odense, Denmark.
María Alejandra Restrepo-CórdobaCardiology Department, Instituto Cardiovascular, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Hospital Clínico San Carlos, Madrid, Spain.
Julián Palomino-DozaCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, Madrid, Spain.
Luis Ruiz-GuerreroCardiology Department, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain.
Georgia Sarquella-BrugadaEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, the Netherlands; Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Barcelona, Spain; Arrítmies, Cardiologia Genètica i Mort Sobtada, Departament de Cardiologia, Institut de Recerca de Sant Joan de Déu, Barcelona, Spain; Medical Sciences Department, School of Medicine, Universitat de Girona, Girona, Spain.
Alberto José Perez-PerezDepartment of Cardiology Hospital Universitario Lucus Augusti, Lugo, Instituto de Investigación Sanitaria de Santiago de Compostela IDIS, Lugo, Spain.
Francisco José Bermúdez-JiménezCardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
Tomas Ripoll-VeraHospital Universitario Son Llatzer, IdISBa, Palma de Mallorca, Spain.
Torsten Bloch RasmussenDepartment of Cardiology, Aarhus University Hospital, Aarhus, Denmark.
Mark JansenDivision Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Maria Sabater-MolinaCIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, El Palmar (Murcia), Spain; Laboratorio de Cardiogenética, IMIB-Universidad de Murcia, El Palmar, Murcia, Spain.
Perry M ElliotInstitute of Cardiovascular Science, University College London, London, United Kingdom; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom.
Pablo Garcia-PaviaHeart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain; CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Amsterdam, the Netherlands; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain; Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain. Electronic address: pablogpavia@yahoo.es.
European Genetic Cardiomyopathies Initiative Investigators
Instituto de Salud Carlos III · ESHospital de Basurto · ESSt Bartholomew's Hospital · GBAarhus University Hospital · DKSpanish National Centre for Cardiovascular Research · ESUniversity Medical Center Utrecht · NLBellvitge University Hospital · ESHeidelberg University · DEHospital General Universitario de Alicante Doctor Balmis · ESHospital Sant Joan de Déu Barcelona · ESComplejo Hospitalario de Salamanca · ESHospital de Galdakao · ESInserm · FRInstitute of Cardiology · PLInstitute of Clinical and Experimental Medicine · CZInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESMaastricht University · NLMeyer Children's Hospital · ITOdense University Hospital · DKUniversidad de Oviedo · ES
Funding
British Heart Foundation FS/CRTF/20/24022Medical Research Council MR/T005181/1
Abstract
backgroundVariants 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.
objectivesWe sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.
methodsWe studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers.
resultsAt 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.
conclusionsMYH7-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.
Indexed as
Cardiomyopathy, DilatedHeart FailureMyosin Heavy ChainsAdolescentAdultArrhythmias, CardiacCardiac MyosinsFemaleHumansMaleMiddle AgedPhenotypeVentricular RemodelingYoung AdultCardiac MyosinsMYH7 protein, humanMyosin Heavy Chainsdilated cardiomyopathygeneticsMYH7
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