Publication: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
Authors
Mogensen, Jens ; Kubo, Toru ; Duque, Mauricio ; Uribe, William ; Shaw, Anthony ; Murphy, Ross ; Gimeno Blanes, Juan Ramón ; Elliott, Perry ; McKenna, William
item.page.secondaryauthor
Facultades de la UMU::Facultad de Medicina
item.page.director
Publisher
American Society for Clinical Investigation
publication.page.editor
publication.page.department
DOI
https://doi.org/10.1172/JCI200316336
item.page.type
info:eu-repo/semantics/article
Description
Abstract
Restrictive 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.
publication.page.subject
Citation
The Journal of Clinical Investigation, 2003, Vol. 111, pp. 209–216
item.page.embargo
Collections
Ir a Estadísticas
Este ítem está sujeto a una licencia Creative Commons. http://creativecommons.org/licenses/by/4.0/