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Natural History of MYH7-Related Dilated Cardiomyopathy
F. de Frutos, JP. Ochoa, M. Navarro-Peñalver, A. Baas, JV. Bjerre, E. Zorio, I. Méndez, R. Lorca, JAJ. Verdonschot, PE. García-Granja, Z. Bilinska, D. Fatkin, ME. Fuentes-Cañamero, JM. García-Pinilla, MI. García-Álvarez, F. Girolami, R....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
MR/T005181/1
Medical Research Council - United Kingdom
NLK
Free Medical Journals
od 1983 do Před 1 rokem
Open Access Digital Library
od 1998-01-01
- MeSH
- dilatační kardiomyopatie * genetika MeSH
- dospělí MeSH
- fenotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- remodelace komor genetika MeSH
- srdeční arytmie komplikace epidemiologie genetika MeSH
- srdeční myosiny genetika MeSH
- srdeční selhání * komplikace genetika MeSH
- těžké řetězce myosinu * genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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.
AP HP Cochin Hospital Cardiology Department Paris France
Cardiology Department Hospital Clínic Barcelona IDIBAPS Universitat de Barcelona Barcelona Spain
Cardiology Department Hospital Universitario Marqués de Valdecilla Santander Cantabria Spain
Cardiology Department Hospital Universitario Virgen de las Nieves Granada Spain
Cardiology Department St Vincent's Hospital Sydney New South Wales Australia
Cardiology Unit Meyer University Hospital Florence Florence Italy
Centro Nacional de Investigaciones Cardiovasculares Madrid Spain
CIBER Cardiovascular Instituto de Salud Carlos 3 Madrid Spain
Complejo Hospitalario Universitario de Badajoz Badajoz Spain
Departamento de Morfología y Biología Celular Universidad de Oviedo Oviedo Spain
Department of Cardiology Aarhus University Hospital Aarhus Denmark
Department of Cardiology Hospital Universitario Basurto Bilbao Spain
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Department of Cardiology Odense University Hospital Odense Denmark
Department of Clinical Genetics Maastricht University Medical Center Maastricht the Netherlands
Department of Pediatrics Aarhus University Hospital Aarhus Denmark
Hospital Universitario Son Llatzer IdISBa Palma de Mallorca Spain
Institute of Cardiovascular Science University College London London United Kingdom
Instituto de Investigación Biomédica de Salamanca Salamanca Spain
Instituto de Investigación Biosanitaria ibs GRANADA Granada Spain
Instituto de Investigación Sanitaria del Principado de Asturias ISPA Oviedo Spain
Instituto de Investigación sanitaria Gregorio Marañón Madrid Spain
Instituto de Investigación Sanitaria y Biomédica de Alicante Alicante Spain
Laboratorio de Cardiogenética IMIB Universidad de Murcia El Palmar Murcia Spain
Medical Sciences Department School of Medicine Universitat de Girona Girona Spain
Paris Cardiovascular Research Center INSERM A Unit 970 Paris France
St Bartholomew's Hospital Barts Heart Centre London United Kingdom
St Vincent's Clinical School Faculty of Medicine UNSW Sydney Sydney New South Wales Australia
Citace poskytuje Crossref.org
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- $a de Frutos, Fernando $u 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, Amsterdam, the Netherlands
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- $a Natural History of MYH7-Related Dilated Cardiomyopathy / $c F. de Frutos, JP. Ochoa, M. Navarro-Peñalver, A. Baas, JV. Bjerre, E. Zorio, I. Méndez, R. Lorca, JAJ. Verdonschot, PE. García-Granja, Z. Bilinska, D. Fatkin, ME. Fuentes-Cañamero, JM. García-Pinilla, MI. García-Álvarez, F. Girolami, R. Barriales-Villa, C. Díez-López, LR. Lopes, K. Wahbi, A. García-Álvarez, I. Rodríguez-Sánchez, J. Rekondo-Olaetxea, JF. Rodríguez-Palomares, M. Gallego-Delgado, B. Meder, M. Kubanek, FG. Hansen, MA. Restrepo-Córdoba, J. Palomino-Doza, L. Ruiz-Guerrero, G. Sarquella-Brugada, AJ. Perez-Perez, FJ. Bermúdez-Jiménez, T. Ripoll-Vera, TB. Rasmussen, M. Jansen, M. Sabater-Molina, PM. Elliot, P. Garcia-Pavia, European Genetic Cardiomyopathies Initiative Investigators
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- $a 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.
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- $a Ochoa, Juan Pablo $u 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, Amsterdam, the Netherlands; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain
- 700 1_
- $a Navarro-Peñalver, Marina $u 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; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, El Palmar (Murcia), Spain
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- 700 1_
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- 700 1_
- $a Zorio, Esther $u 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
- 700 1_
- $a Méndez, Irene $u 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
- 700 1_
- $a Lorca, Rebeca $u 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
- 700 1_
- $a Verdonschot, Job A J $u Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
- 700 1_
- $a García-Granja, Pablo Elpidio $u CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Cardiology Department, Instituto de Ciencias del Corazón, Hospital Clínico Universitario de Valladolid, Valladolid, Spain
- 700 1_
- $a Bilinska, Zofia $u Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland
- 700 1_
- $a Fatkin, Diane $u Molecular 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
- 700 1_
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- 700 1_
- $a García-Pinilla, José M $u 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
- 700 1_
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- 700 1_
- $a Girolami, Francesca $u Cardiology Unit, Meyer University Hospital Florence, Florence, Italy
- 700 1_
- $a Barriales-Villa, Roberto $u CIBER 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
- 700 1_
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- 700 1_
- $a Lopes, Luis R $u Institute of Cardiovascular Science, University College London, London, United Kingdom; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom
- 700 1_
- $a Wahbi, Karim $u AP-HP, Cochin Hospital, Cardiology Department, Paris, France; Paris Cardiovascular Research Center, INSERM A Unit 970, Paris, France
- 700 1_
- $a García-Álvarez, Ana $u CIBER 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
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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