Publication:
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

Simple item page
dc.contributor.authorOliva Sandoval, María José
dc.contributor.authorMonserrat, Lorenzo
dc.contributor.authorHermida Prieto, Manuel
dc.contributor.authorSabater Molina, María
dc.contributor.authorGarcía Molina, Esperanza
dc.contributor.authorOrtiz, Martín
dc.contributor.authorRodríguez García, María Isabel
dc.contributor.authorNúñez, Lucía
dc.contributor.authorGimeno, Juan Ramón
dc.contributor.authorCastro Beiras, Alfonso
dc.contributor.authorValdés, Mariano
dc.contributor.authorRuiz Espejo, Francisco
dc.contributor.departmentCiencias Sociosanitarias
dc.date.accessioned2024-02-12T11:13:06Z
dc.date.available2024-02-12T11:13:06Z
dc.date.issued2010-11-23
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.abstractBackground: 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 profilees
dc.formatapplication/pdfes
dc.format.extent6es
dc.identifier.citationHeart. 96(24) 2010: 1980-1984
dc.identifier.doihttps://doi.org/10.1016/S1885-5857(10)70059-1
dc.identifier.issnPrint: 1355-6037
dc.identifier.issnElectronic: 1468-201X
dc.identifier.urihttp://hdl.handle.net/10201/139272
dc.languageenges
dc.publisherBMJ Publishing Group
dc.relationThis 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.relation.publisherversionhttps://heart.bmj.com/content/96/24/1980
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.titleInsights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3es
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublication0df35bdc-c7fd-417d-9e50-b1b69e17c1ea
relation.isAuthorOfPublication.latestForDiscovery0df35bdc-c7fd-417d-9e50-b1b69e17c1ea
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Articulo_del_HEART_MJO[2010].pdf
Size:
181.03 KB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
2.26 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Artículos