Natural History of MYH7-Related Dilated Cardiomyopathy.
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. We sought to determine the phenotype and prognosis of MYH7-related DCM. W...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Instituto de Salud Carlos III (ISCIII) |
| Repositorio: | Repisalud |
| Idioma: | inglés |
| OAI Identifier: | oai:repisalud.isciii.es:20.500.12105/15246 |
| Acceso en línea: | http://hdl.handle.net/20.500.12105/15246 |
| Access Level: | acceso abierto |
| Palabra clave: | Cardiomyopathy, Dilated Heart Failure Myosin Heavy Chains Adolescent Adult Arrhythmias, Cardiac Cardiac Myosins Female Humans Male Middle Aged Phenotype Ventricular Remodeling Young Adult |
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Natural History of MYH7-Related Dilated Cardiomyopathy.de Frutos, FernandoOchoa, Juan PabloNavarro-Peñalver, MarinaBaas, AnnetteBjerre, Jesper VandborgZorio, EstherMéndez, IreneLorca, RebecaVerdonschot, Job A JGarcía-Granja, Pablo ElpidioBilinska, ZofiaFatkin, DianeFuentes-Cañamero, M EugeniaGarcía-Pinilla, José MGarcía-Álvarez, María IGirolami, FrancescaBarriales-Villa, RobertoDíez-López, CarlesLopes, Luis RWahbi, KarimGarcía-Álvarez, AnaRodríguez-Sánchez, IbonRekondo-Olaetxea, JavierRodríguez-Palomares, José FGallego-Delgado, MaríaMeder, BenjaminKubanek, MilosHansen, Frederikke GRestrepo-Córdoba, María AlejandraPalomino-Doza, JuliánRuiz-Guerrero, LuisSarquella-Brugada, GeorgiaPerez-Perez, Alberto JoséBermúdez-Jiménez, Francisco JoséRipoll-Vera, TomasRasmussen, Torsten BlochJansen, MarkSabater-Molina, MariaElliot, Perry MGarcia-Pavia, PabloCardiomyopathy, DilatedHeart FailureMyosin Heavy ChainsAdolescentAdultArrhythmias, CardiacCardiac MyosinsFemaleHumansMaleMiddle AgedPhenotypeVentricular RemodelingYoung AdultVariants 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. We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. 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. 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. 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.ElsevierInstituto de Salud Carlos IIIUnión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)Ministerio de Ciencia e Innovación (España)Fundación ProCNICMinisterio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)European Reference Network for Rare and Low Prevalence Complex Diseases of the HeartUnión Europea. Comisión Europea. H2020. ERA-CVDDutch Heart Foundation (Holanda)Victor Chang Cardiac Research InstituteNSW HealthClinical Academic Research Partnerships (CARP)Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research)Informatics for Life (Klaus Tschira Foundation)Ministry of Health (República Checa)Institute for Clinical and Experimental Medicine–IKEM20222022-11-2920222022-10-1120222022-10-11journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/15246reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/152462026-06-12T12:43:37Z |
| dc.title.none.fl_str_mv |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| title |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| spellingShingle |
Natural History of MYH7-Related Dilated Cardiomyopathy. de Frutos, Fernando Cardiomyopathy, Dilated Heart Failure Myosin Heavy Chains Adolescent Adult Arrhythmias, Cardiac Cardiac Myosins Female Humans Male Middle Aged Phenotype Ventricular Remodeling Young Adult |
| title_short |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| title_full |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| title_fullStr |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| title_full_unstemmed |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| title_sort |
Natural History of MYH7-Related Dilated Cardiomyopathy. |
| dc.creator.none.fl_str_mv |
de Frutos, Fernando Ochoa, Juan Pablo Navarro-Peñalver, Marina Baas, Annette Bjerre, Jesper Vandborg Zorio, Esther Méndez, Irene Lorca, Rebeca Verdonschot, Job A J García-Granja, Pablo Elpidio Bilinska, Zofia Fatkin, Diane Fuentes-Cañamero, M Eugenia García-Pinilla, José M García-Álvarez, María I Girolami, Francesca Barriales-Villa, Roberto Díez-López, Carles Lopes, Luis R Wahbi, Karim García-Álvarez, Ana Rodríguez-Sánchez, Ibon Rekondo-Olaetxea, Javier Rodríguez-Palomares, José F Gallego-Delgado, María Meder, Benjamin Kubanek, Milos Hansen, Frederikke G Restrepo-Córdoba, María Alejandra Palomino-Doza, Julián Ruiz-Guerrero, Luis Sarquella-Brugada, Georgia Perez-Perez, Alberto José Bermúdez-Jiménez, Francisco José Ripoll-Vera, Tomas Rasmussen, Torsten Bloch Jansen, Mark Sabater-Molina, Maria Elliot, Perry M Garcia-Pavia, Pablo |
| author |
de Frutos, Fernando |
| author_facet |
de Frutos, Fernando Ochoa, Juan Pablo Navarro-Peñalver, Marina Baas, Annette Bjerre, Jesper Vandborg Zorio, Esther Méndez, Irene Lorca, Rebeca Verdonschot, Job A J García-Granja, Pablo Elpidio Bilinska, Zofia Fatkin, Diane Fuentes-Cañamero, M Eugenia García-Pinilla, José M García-Álvarez, María I Girolami, Francesca Barriales-Villa, Roberto Díez-López, Carles Lopes, Luis R Wahbi, Karim García-Álvarez, Ana Rodríguez-Sánchez, Ibon Rekondo-Olaetxea, Javier Rodríguez-Palomares, José F Gallego-Delgado, María Meder, Benjamin Kubanek, Milos Hansen, Frederikke G Restrepo-Córdoba, María Alejandra Palomino-Doza, Julián Ruiz-Guerrero, Luis Sarquella-Brugada, Georgia Perez-Perez, Alberto José Bermúdez-Jiménez, Francisco José Ripoll-Vera, Tomas Rasmussen, Torsten Bloch Jansen, Mark Sabater-Molina, Maria Elliot, Perry M Garcia-Pavia, Pablo |
| author_role |
author |
| author2 |
Ochoa, Juan Pablo Navarro-Peñalver, Marina Baas, Annette Bjerre, Jesper Vandborg Zorio, Esther Méndez, Irene Lorca, Rebeca Verdonschot, Job A J García-Granja, Pablo Elpidio Bilinska, Zofia Fatkin, Diane Fuentes-Cañamero, M Eugenia García-Pinilla, José M García-Álvarez, María I Girolami, Francesca Barriales-Villa, Roberto Díez-López, Carles Lopes, Luis R Wahbi, Karim García-Álvarez, Ana Rodríguez-Sánchez, Ibon Rekondo-Olaetxea, Javier Rodríguez-Palomares, José F Gallego-Delgado, María Meder, Benjamin Kubanek, Milos Hansen, Frederikke G Restrepo-Córdoba, María Alejandra Palomino-Doza, Julián Ruiz-Guerrero, Luis Sarquella-Brugada, Georgia Perez-Perez, Alberto José Bermúdez-Jiménez, Francisco José Ripoll-Vera, Tomas Rasmussen, Torsten Bloch Jansen, Mark Sabater-Molina, Maria Elliot, Perry M Garcia-Pavia, Pablo |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Instituto de Salud Carlos III Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) Ministerio de Ciencia e Innovación (España) Fundación ProCNIC Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart Unión Europea. Comisión Europea. H2020. ERA-CVD Dutch Heart Foundation (Holanda) Victor Chang Cardiac Research Institute NSW Health Clinical Academic Research Partnerships (CARP) Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research) Informatics for Life (Klaus Tschira Foundation) Ministry of Health (República Checa) Institute for Clinical and Experimental Medicine–IKEM |
| dc.subject.none.fl_str_mv |
Cardiomyopathy, Dilated Heart Failure Myosin Heavy Chains Adolescent Adult Arrhythmias, Cardiac Cardiac Myosins Female Humans Male Middle Aged Phenotype Ventricular Remodeling Young Adult |
| topic |
Cardiomyopathy, Dilated Heart Failure Myosin Heavy Chains Adolescent Adult Arrhythmias, Cardiac Cardiac Myosins Female Humans Male Middle Aged Phenotype Ventricular Remodeling Young Adult |
| description |
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. We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. 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. 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. 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. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022 2022-11-29 2022 2022-10-11 2022 2022-10-11 |
| dc.type.none.fl_str_mv |
journal article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/20.500.12105/15246 |
| url |
http://hdl.handle.net/20.500.12105/15246 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Elsevier |
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Elsevier |
| dc.source.none.fl_str_mv |
reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII) |
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Instituto de Salud Carlos III (ISCIII) |
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Repisalud |
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Repisalud |
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1869422629017878528 |
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15.812429 |