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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Oliva Sandoval, María José | - |
dc.contributor.author | Ruiz Espejo, Francisco | - |
dc.contributor.author | Monserrat, Lorenzo | - |
dc.contributor.author | Hermida Prieto, Manuel | - |
dc.contributor.author | Sabater Molina, María | - |
dc.contributor.author | García Molina, Esperanza | - |
dc.contributor.author | Ortiz, Martín | - |
dc.contributor.author | Rodríguez García, María Isabel | - |
dc.contributor.author | Núñez, Lucía | - |
dc.contributor.author | Gimeno, Juan Ramón | - |
dc.contributor.author | Castro Beiras, Alfonso | - |
dc.contributor.author | Valdés, Mariano | - |
dc.contributor.other | Facultades, Departamentos, Servicios y Escuelas::Departamentos de la UMU::Ciencias Sociosanitarias | - |
dc.date.accessioned | 2024-02-12T11:13:06Z | - |
dc.date.available | 2024-02-12T11:13:06Z | - |
dc.date.issued | 2010-11-23 | - |
dc.identifier.citation | Heart. 96(24); 2010: 1980-1984 | es |
dc.identifier.issn | Print: 1355-6037 | - |
dc.identifier.issn | Electronic: 1468-201X | - |
dc.identifier.uri | http://hdl.handle.net/10201/139272 | - |
dc.description | ©2010. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the Accepted, version of a Published Work that appeared in final form in Heart. To access the final edited and published work see https://doi.org/10.1136/hrt.2010.200402 | - |
dc.description.abstract | Background: Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study sought to determine the clinical characteristics, penetrance and prognosis of HCM with an identical mutation in MYBPC3. Methods: 154 non-related patients with HCM (aged 55±16 years, 100 (64.9%) males) were studied. 18 (11.7%) were found to have an identical mutation in the MYBPC3 gene (IVS23+1G→A). Pedigree analysis, including both clinical evaluation and genotyping, was performed. Results: 152 individuals (mean age 37±18 years, 53.3% males) from 18 families were evaluated. 65 carriers of the IVS23+1G→A mutation were identified, 61.5% of whom met HCM diagnostic criteria. Penetrance of the disease increased with age, with 50% affected at 46 years of age. Males tended to develop the disease earlier than females. 7 (15.6%) had systolic dysfunction. Compared with the rest of the HCM cohort, probands with the mutation had more hypertrophy and were younger at diagnosis. There was a trend towards a reduced survival free from sudden death (SD) (HR 1.71; 95% CI 0.98 to 2.98, p=0.059). There were 17 SD cases in 12 families with the mutation. Conclusions: The MYBPC3 IVS23+1G→A mutation is associated with middle-age onset disease and poor outcome, with a significant proportion of patients developing systolic impairment and a high SD risk profile | es |
dc.format | application/pdf | es |
dc.format.extent | 6 | es |
dc.language | eng | es |
dc.publisher | BMJ Publishing Group | - |
dc.relation | This study has been partly funded by national grants from the FIS (PI050377, PI070926) and by the Cardiovascular Research Network (RECAVA) from the Health Institute Carlos III (C03/01, RD06/0014/0017, RD06/0014/0018). | es |
dc.rights | info:eu-repo/semantics/openAccess | es |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | - |
dc.title | Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3 | es |
dc.type | info:eu-repo/semantics/article | es |
dc.relation.publisherversion | https://heart.bmj.com/content/96/24/1980 | - |
dc.identifier.doi | https://doi.org/10.1016/S1885-5857(10)70059-1 | - |
Aparece en las colecciones: | Artículos: Ciencias Sociosanitarias |
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Articulo_del_HEART_MJO[2010].pdf | 181,03 kB | Adobe PDF | Visualizar/Abrir |
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