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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

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dc.contributor.authorMogensen, Jens
dc.contributor.authorKubo, Toru
dc.contributor.authorDuque, Mauricio
dc.contributor.authorUribe, William
dc.contributor.authorShaw, Anthony
dc.contributor.authorMurphy, Ross
dc.contributor.authorGimeno Blanes, Juan Ramón
dc.contributor.authorElliott, Perry
dc.contributor.authorMcKenna, William
dc.contributor.departmentMedicina
dc.contributor.otherFacultades de la UMU::Facultad de Medicina
dc.date.accessioned2026-01-13T08:10:18Z
dc.date.available2026-01-13T08:10:18Z
dc.date.copyright© 2003 Los autores
dc.date.issued2003-03
dc.description.abstractRestrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired filling of the ventricles with reduced volume in the presence of normal or near normal wall thickness and systolic function. The disease may be associated with systemic disease but is most often idiopathic. We recognized a large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy (HCM). Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in six of these nine RCM patients. Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene.
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dc.format.extent9
dc.identifier.citationThe Journal of Clinical Investigation, 2003, Vol. 111, pp. 209–216
dc.identifier.doihttps://doi.org/10.1172/JCI200316336
dc.identifier.eissn1558-8238
dc.identifier.issn0021-9738
dc.identifier.urihttp://hdl.handle.net/10201/186050
dc.languageeng
dc.publisherAmerican Society for Clinical Investigation
dc.relationThe study was supported by grants from the British Heart Foundation, The Danish Medical Research Council, and The Danish Heart Foundation.
dc.relation.publisherversionhttps://www.jci.org/articles/view/16336
dc.rightsAttribution 4.0 International*
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.odsNo relacionado con ningún objetivo de desarrollo sostenible
dc.titleIdiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
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relation.isAuthorOfPublication4d37f6b7-66c0-4f9a-81c7-72d9bd67f2fb
relation.isAuthorOfPublication.latestForDiscovery4d37f6b7-66c0-4f9a-81c7-72d9bd67f2fb
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