RT Journal Article
T1 Embryonic development of bicuspid aortic valves.
A1 Soto-Navarrete, María Teresa
A1 López-Unzu, Miguel A.
A1 Durán-Boyero, Ana Carmen
A1 Fernández-Corujo, Borja
K1 Válvula aórtica
K1 Cresta neural
K1 Embriología
K1 Animales - Malformaciones congénitas
AB Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, frequently associated with aortopathies and valvulopathies. The congenital origin of BAV is suspected to impact the development of the disease in the adult life. During the last decade, a number of studies dealingwith theembryonic development of congenital heart disease have significantly improved our knowledge on BAV etiology. They describe the developmental defects, at the molecular, cellular and morphological levels, leading to congenital cardiac malformations, including BAV, in animal models. These models consist of a spontaneous hamster and several mouse models with different genetic manipulations in genes belonging to a variety of pathways. In this review paper, we aim to gather information on the developmental defects leading to BAV formation in these animal models, in order to tentatively explain the morphogenetic origin of the spectrum of valve morphologies that characterizes human BAV. BAV may be the only defect resulting from gene manipulation in mice, but usually it appears as the less severe defect of a spectrum of malformations, most frequently affecting the cardiac outflow tract. The genes whose alterations cause BAV belong to different genetic pathways, but many of them are direct or indirectly associated with the NOTCH pathway. These molecular alterations affect three basic cellular mechanisms during heart development, i.e., endocardial-to-mesenchymal transformation, cardiac neural crest (CNC) cell behavior and valve cushion mesenchymal cell differentiation. The defective cellular functions affect three possible morphogenetic mechanisms, i.e., outflow tract endocardial cushion formation, outflow tract septation and valve cushion excavation. While endocardial cushion abnormalities usually lead to latero-lateral BAVs and septation defects to antero-posterior BAVs, alterations in cushion excavation may give rise to both BAV types.
PB Elsevier
YR 2020
FD 2020-06-25
LK https://hdl.handle.net/10630/30000
UL https://hdl.handle.net/10630/30000
LA eng
NO Soto-Navarrete, M. T., López-Unzu, M. Á., Durán, A. C., & Fernández, B. (2020). Embryonic development of bicuspid aortic valves. Progress in Cardiovascular Diseases, 63(4), 407–418.
NO Consejería de Salud y Familias, Junta de Andalucía (grant PI-0530-2019).Ministerio de Ciencia e Innovación (grant CGL2017-85090-P, fellowships FPU15/03209 to M.A.L.-U. andPRE2018-083176 to M.T.S.-N.).FEDER funds
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 21 ene 2026