Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort
Miocardiopatía hipertrófica; Enfermedades genéticas; Insuficiencia cardíaca
| Autores: | , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2024 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:11351/12445 |
| Acceso en línea: | https://hdl.handle.net/11351/12445 http://hdl.handle.net/11351/12445 |
| Access Level: | acceso abierto |
| Palabra clave: | Malalties congènites Marcadors bioquímics Proteïnes portadores Miocardi - Malalties Cor - Hipertròfia DISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas |
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Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| title |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| spellingShingle |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort Melendo-Viu, Maria Malalties congènites Marcadors bioquímics Proteïnes portadores Miocardi - Malalties Cor - Hipertròfia DISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas |
| title_short |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| title_full |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| title_fullStr |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| title_full_unstemmed |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| title_sort |
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort |
| dc.creator.none.fl_str_mv |
Melendo-Viu, Maria Salguero Bodes, Rafael Valverde-Gómez, María Larrañaga Moreira, Jose Maria Díez-López, Carles Barriales-Villa, Roberto Limeres Freire, Javier |
| author |
Melendo-Viu, Maria |
| author_facet |
Melendo-Viu, Maria Salguero Bodes, Rafael Valverde-Gómez, María Larrañaga Moreira, Jose Maria Díez-López, Carles Barriales-Villa, Roberto Limeres Freire, Javier |
| author_role |
author |
| author2 |
Salguero Bodes, Rafael Valverde-Gómez, María Larrañaga Moreira, Jose Maria Díez-López, Carles Barriales-Villa, Roberto Limeres Freire, Javier |
| author2_role |
author author author author author author |
| dc.contributor.none.fl_str_mv |
Institut Català de la Salut [Melendo-Viu M] Cardiology, Hospital Álvaro Cunqueiro, Vigo, Spain. Faculty of Medicine, Complutense University, Madrid, Spain. Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Salguero-Bodes R] Faculty of Medicine, Complutense University, Madrid, Spain. Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Valverde-Gómez M] Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Larrañaga-Moreira JM] Complexo Hospitalario Universitario A Coruña, A Coruña, Spain. [Barriales R] Cardiology, Complexo Hospitalario Universitario A Coruña, A Coruña, Spain. [Díez-Lopez C] Bellvitge University Hospital, L'Hospitalet de Llobregat, Spain. [Limeres Freire] Vall d’Hebron Hospital Universitari, Barcelona, Spain. European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, Netherlands Vall d'Hebron Barcelona Hospital Campus |
| dc.subject.none.fl_str_mv |
Malalties congènites Marcadors bioquímics Proteïnes portadores Miocardi - Malalties Cor - Hipertròfia DISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas |
| topic |
Malalties congènites Marcadors bioquímics Proteïnes portadores Miocardi - Malalties Cor - Hipertròfia DISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas |
| description |
Miocardiopatía hipertrófica; Enfermedades genéticas; Insuficiencia cardíaca |
| publishDate |
2024 |
| dc.date.none.fl_str_mv |
2024 2025 2025 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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https://hdl.handle.net/11351/12445 http://hdl.handle.net/11351/12445 |
| url |
https://hdl.handle.net/11351/12445 http://hdl.handle.net/11351/12445 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Open Heart;11(2) https://doi.org/10.1136/openhrt-2024-002891 |
| dc.rights.none.fl_str_mv |
Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ info:eu-repo/semantics/openAccess |
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Attribution-NonCommercial 4.0 International http://creativecommons.org/licenses/by-nc/4.0/ |
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openAccess |
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application/pdf |
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BMJ |
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BMJ |
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Scientia reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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1869411277540950016 |
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Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohortMelendo-Viu, MariaSalguero Bodes, RafaelValverde-Gómez, MaríaLarrañaga Moreira, Jose MariaDíez-López, CarlesBarriales-Villa, RobertoLimeres Freire, JavierMalalties congènitesMarcadors bioquímicsProteïnes portadoresMiocardi - MalaltiesCor - HipertròfiaDISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, HypertrophicCHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier ProteinsDISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, InbornPHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::MutationENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertróficaCOMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadorasFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutaciónENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitasMiocardiopatía hipertrófica; Enfermedades genéticas; Insuficiencia cardíacaMiocardiopatia hipertròfica; Malalties genètiques; Insuficiència cardíacaHypertrophic cardiomyopathy; Genetic diseases; Heart failureBackground Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating MYBPC3 variants. Methods and results A cohort of patients and relatives with HCM diagnosis and carrying a truncating MYBPC3 variant were retrospectively recruited. Subjects had an average follow-up of 7.77 years, with an incident HCM phenotype of 10%. They were middle-aged adult patients (47±16.8 years) without significant comorbidities or symptoms. Hypertrophy was discrete with a significative difference between probands and relatives (17.5±4 mm vs 14.6±5 mm; p<0.0001). Ejection fraction was predominantly preserved (65%±10%). Despite it being the most common clinical event, relevant heart failure (observed in 8.1% of patients) was infrequent and commonly found in the presence of a second environmental precipitating agent. ESC-HCM risk calculator and modifier factors did not correlate with the risk of major events predicting events, which were low (1.51 per 100 patients/year) and associated with the severity of HCM, abnormal QRS in the ECG and age. Genetic factors and sex were not associated with major events. Conclusions This is the first molecularly homogeneous, contemporary cohort, including HCM patients secondary to MYBPC3 truncating variants. Patients showed a good prognosis with a low event rate. In our cohort, major arrhythmic events were not related to measured environmental or genetic factors.BMJInstitut Català de la Salut[Melendo-Viu M] Cardiology, Hospital Álvaro Cunqueiro, Vigo, Spain. Faculty of Medicine, Complutense University, Madrid, Spain. Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Salguero-Bodes R] Faculty of Medicine, Complutense University, Madrid, Spain. Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Valverde-Gómez M] Cardiology, Hospital Universitario 12 de Octubre Centro de Investigacion Biomedica, Madrid, Spain. [Larrañaga-Moreira JM] Complexo Hospitalario Universitario A Coruña, A Coruña, Spain. [Barriales R] Cardiology, Complexo Hospitalario Universitario A Coruña, A Coruña, Spain. [Díez-Lopez C] Bellvitge University Hospital, L'Hospitalet de Llobregat, Spain. [Limeres Freire] Vall d’Hebron Hospital Universitari, Barcelona, Spain. European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, NetherlandsVall d'Hebron Barcelona Hospital Campus202520252024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/12445http://hdl.handle.net/11351/12445Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésOpen Heart;11(2)https://doi.org/10.1136/openhrt-2024-002891Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/124452026-05-29T05:05:01Z |
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15.812455 |