Please use this identifier to cite or link to this item:
Title: Cardiac, mandibular and thymic phenotypical association indicates that cranial neural crest underlies bicuspid aortic valve formation in hamsters.
Authors: Martínez-Vargas, Jessica
Ventura, Jacint
Machuca, Ángela
Muñoz-Muñoz, Francesc
Fernández, María Carmen
Soto-Navarrete, María Teresa
Durán, Ana Carmen
Fernández, Borja
metadata.dc.subject.mesh: Animals
Aortic Valve
Bicuspid Aortic Valve Disease
Heart Valve Diseases
Neural Crest
Thymus Gland
Issue Date: 27-Sep-2017
Abstract: Bicuspid aortic valve (BAV) is the most prevalent human congenital cardiac malformation. It may appear isolated, associated with other cardiovascular malformations, or forming part of syndromes. Cranial neural crest (NC) defects are supposed to be the cause of the spectrum of disorders associated with syndromic BAV. Experimental studies with an inbred hamster model of isolated BAV showed that alterations in the migration or differentiation of the cardiac NC cells in the embryonic cardiac outflow tract are most probably responsible for the development of this congenital valvular defect. We hypothesize that isolated BAV is not the result of local, but of early alterations in the behavior of the NC cells, thus also affecting other cranial NC-derived structures. Therefore, we tested whether morphological variation of the aortic valve is linked to phenotypic variation of the mandible and the thymus in the hamster model of isolated BAV, compared to a control strain. Our results show significant differences in the size and shape of the mandible as well as in the cellular composition of the thymus between the two strains, and in mandible shape regarding the morphology of the aortic valve. Given that both the mandible and the thymus are cranial NC derivatives, and that the cardiac NC belongs to the cephalic domain, we propose that the causal defect leading to isolated BAV during embryonic development is not restricted to local alterations of the cardiac NC cells in the cardiac outflow tract, but it is of pleiotropic or polytopic nature. Our results suggest that isolated BAV may be the forme fruste of a polytopic syndrome involving the cranial NC in the hamster model and in a proportion of affected patients.
metadata.dc.identifier.doi: 10.1371/journal.pone.0183556
Appears in Collections:Producción 2020

Files in This Item:
File SizeFormat 
PMC5617148.pdf10,06 MBAdobe PDFView/Open

This item is protected by original copyright

This item is licensed under a Creative Commons License Creative Commons