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dc.contributor.authorGarcía-Giustiniani, Diegoen_US
dc.contributor.authorArad, Michaelen_US
dc.contributor.authorOrtíz-Genga, Martínen_US
dc.contributor.authorBarriales-Villa, Robertoen_US
dc.contributor.authorFernández, Xustoen_US
dc.contributor.authorRodríguez-García, Isabelen_US
dc.contributor.authorMazzanti, Andreaen_US
dc.contributor.authorVeira, Elenaen_US
dc.contributor.authorManeiro, Emiliaen_US
dc.contributor.authorRebolo, Paulaen_US
dc.contributor.authorLesende, Ivánen_US
dc.contributor.authorCazón, Lauraen_US
dc.contributor.authorFreimark, Doven_US
dc.contributor.authorGimeno-Blanes, Juan Ramónen_US
dc.contributor.authorSeidman, Christineen_US
dc.contributor.authorSeidman, Jonathanen_US
dc.contributor.authorMcKenna, Williamen_US
dc.contributor.authorMonserrat, Lorenzoen_US
dc.date.accessioned2015-08-03T14:01:28Z
dc.date.issued2015en_US
dc.identifier.citationGarcía-Giustiniani, D., M. Arad, M. Ortíz-Genga, R. Barriales-Villa, X. Fernández, I. Rodríguez-García, A. Mazzanti, et al. 2015. “Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.” Heart 101 (13): 1047-1053. doi:10.1136/heartjnl-2014-307205. http://dx.doi.org/10.1136/heartjnl-2014-307205.en
dc.identifier.issn1355-6037en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:17820773
dc.description.abstractObjectives: The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin heavy chain (MYH7). Methods: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region. Results: Twenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. One hundred eighty-four had events (cardiovascular death or transplant). Median event-free survival was 50±2 years in our patients and 53±3 years in the literature (p=0.27). There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival. Conclusions: Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations. The identification of a mutation in this particular region provides important prognostic information that should be considered in the clinical management of affected patients.en
dc.language.isoen_USen
dc.publisherBMJ Publishing Groupen
dc.relation.isversionofdoi:10.1136/heartjnl-2014-307205en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484257/pdf/en
dash.licenseLAAen_US
dc.titlePhenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chainen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalHearten
dash.depositing.authorSeidman, Christineen_US
dc.date.available2015-08-03T14:01:28Z
dc.identifier.doi10.1136/heartjnl-2014-307205*
dash.authorsorderedfalse
dash.contributor.affiliatedSeidman, Jonathan
dash.contributor.affiliatedSeidman, Christine


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