Natural History of MYH7-Related Dilated Cardiomyopathy
Por:
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JA, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM and Garcia-Pavia P
Publicada:
11 oct 2022
Ahead of Print:
1 oct 2022
Categoría:
Cardiology and cardiovascular medicine
Resumen:
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. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
Filiaciones:
de Frutos F:
Heart 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: ERN GUARD-Heart, Amsterdam, the Netherlands
Ochoa JP:
Heart 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: ERN GUARD-Heart, Amsterdam, the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
Navarro-Peñalver M:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart, Amsterdam, the Netherlands
Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca. El Palmar (Murcia), Spain
Baas A:
Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics. University Medical Center Utrecht, Utrecht, Netherlands
Bjerre JV:
Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark
Zorio E:
CIBER 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
Méndez I:
CIBER 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
Lorca R:
Área 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
Verdonschot JA:
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
García-Granja PE:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
Cardiology Department. Instituto de Ciencias del Corazón (ICICOR). Hospital Clínico Universitario de Valladolid. Valladolid. Spain
Bilinska Z:
Unit for Screening Studies in Inherited Cardiovascular Diseases. National Institute of Cardiology, Warsaw, Poland
Fatkin D:
Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia
St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, NSW, Australia
Cardiology Department, St Vincent's Hospital, Sydney, NSW, Australia
Fuentes-Cañamero ME:
Complejo Hospitalario Universitario de Badajoz, Badajoz, Spain
García-Pinilla JM:
CIBER 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
García-Álvarez MI:
Unidad de Cardiopatías Familiares e Insuficiencia Cardiaca. Hospital General Universitario de Alicante. Alicante, Spain
Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain
Girolami F:
Cardiology Unit. Meyer University Hospital Florence, Florence, Italy
Barriales-Villa R:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain
Díez-López C:
Advanced 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 (IDIBELL), L'Hospitalet de Llobregat, Spain
Lopes LR:
Institute of Cardiovascular Science, University College London, UK
St Bartholomew's Hospital, Barts Heart Centre, London, UK
Wahbi K:
AP-HP, Cochin Hospital, Cardiology Department, Paris, France
Paris Cardiovascular Research Center (PARCC), INSERM Unit 970, Paris, France
García-Álvarez A:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
Cardiology Department, Hospital Clínic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain
Rodríguez-Sánchez I:
Osakidetza-IIS Biocruces-Bizkaia-Hospital Universitario Galdakao-Usansolo, UPV/EHU, Department of Cardiology, Galdakao, Spain
Rekondo-Olaetxea J:
Department of Cardiology. Hospital Universitario Basurto, Bilbao, Spain
Rodríguez-Palomares JF:
CIBER 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 (VHIR). Universitat Autònoma de Barcelona, Barcelona, Spain
Gallego-Delgado M:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
Department of Cardiology. CSUR Cardiopatías Familiares. Complejo Asistencial Universitario de Salamanca (CAUSA), Salamanca, Spain
Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain
Meder B:
Institute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, Germany
Genome Technology Center Stanford, Department of Genetics, Stanford Medical School, California, USA
Kubanek M:
Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
Hansen FG:
Department of Cardiology, Odense University Hospital, Odense, Denmark
Restrepo-Córdoba MA:
Cardiology Department. Instituto Cardiovascular. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC). Hospital Clínico San Carlos, Madrid, Spain
Palomino-Doza J:
CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain
Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12. Madrid, Spain
Ruiz-Guerrero L:
Cardiology Department, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain
Sarquella-Brugada G:
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-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
Perez-Perez AJ:
Department of Cardiology Hospital Universitario Lucus Augusti. Lugo. Instituto de Investigación Sanitaria de Santiago de Compostela IDIS, Spain
Bermúdez-Jiménez FJ:
Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain
Instituto de Investigación Biosanitaria Ibs.Granada, Granada, Spain
Ripoll-Vera T:
Hospital Universitario Son Llatzer, IdISBa. Palma de Mallorca, Spain
Rasmussen TB:
Department of cardiology, Aarhus University Hospital, Aarhus, Denmark
Jansen M:
Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics. University Medical Center Utrecht, Utrecht, Netherlands
Sabater-Molina M:
CIBER 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
Elliot PM:
Institute of Cardiovascular Science, University College London, UK
St Bartholomew's Hospital, Barts Heart Centre, London, UK
Garcia-Pavia P:
Heart 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: ERN GUARD-Heart, Amsterdam, the Netherlands
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain
Green Submitted, hybrid
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