RT Journal Article
T1 Bicuspid Aortic Valve in 2 Model Species and Review of the Literature.
A1 Fernández, Borja
A1 Soto-Navarrete, María Teresa
A1 López-García, Alejandro
A1 López-Unzu, Miguel Ángel
A1 Durán, Ana Carmen
A1 Fernández, M Carmen
K1 anatomy
K1 bicuspid aortic valve
K1 congenital heart defects
K1 etiology
K1 hamsters
K1 mouse
K1 quadricuspid aortic valve
K1 review
AB Bicuspid aortic valve (BAV) is the most common human congenital cardiac malformation. Although the etiology is unknown for most patients, formation of the 2 main BAV anatomic types (A and B) has been shown to rely on distinct morphogenetic mechanisms. Animal models of BAV include 2 spontaneous hamster strains and 27 genetically modified mouse strains. To assess the value of these models for extrapolation to humans, we examined the aortic valve anatomy of 4340 hamsters and 1823 mice from 8 and 7 unmodified strains, respectively. In addition, we reviewed the literature describing BAV in nonhuman mammals. The incidences of BAV types A and B were 2.3% and 0.03% in control hamsters and 0% and 0.3% in control mice, respectively. Hamsters from the spontaneous model had BAV type A only, whereas mice from 2 of 27 genetically modified strains had BAV type A, 23 of 27 had BAV type B, and 2 of 27 had both BAV types. In both species, BAV incidence was dependent on genetic background. Unlike mice, hamsters had a wide spectrum of aortic valve morphologies. We showed interspecific differences in the occurrence of BAV between humans, hamsters, and mice that should be considered when studying aortic valve disease using animal models. Our results suggest that genetic modifiers play a significant role in both the morphology and incidence of BAV. We propose that mutations causing anomalies in specific cardiac morphogenetic processes or cell lineages may lead to BAV types A, B, or both, depending on additional genetic, environmental, and epigenetic factors.
YR 2020
FD 2020-02-21
LK http://hdl.handle.net/10668/15138
UL http://hdl.handle.net/10668/15138
LA en
DS RISalud
RD Apr 7, 2025