TY - JOUR
T1 - Developmental Mechanisms of Aortic Valve Malformation and Disease
AU - Wu, Bingruo
AU - Wang, Yidong
AU - Xiao, Feng
AU - Butcher, Jonathan T.
AU - Yutzey, Katherine E.
AU - Zhou, Bin
N1 - Publisher Copyright:
© Copyright 2017 by Annual Reviews. All rights reserved.
PY - 2017/2/10
Y1 - 2017/2/10
N2 - Normal aortic valves are composed of valve endothelial cells (VECs) and valve interstitial cells (VICs). VICs are the major cell population and have distinct embryonic origins in the endocardium and cardiac neural crest cells. Cell signaling between the VECs and VICs plays critical roles in aortic valve morphogenesis. Disruption of major cell signaling pathways results in aortic valve malformations, including bicuspid aortic valve (BAV). BAV is a common congenital heart valve disease that may lead to calcific aortic valve disease (CAVD), but there is currently no effective medical treatment for this beyond surgical replacement. Mouse and human studies have identified causative gene mutations for BAV and CAVD via disrupted VEC to VIC signaling. Future studies on the developmental signaling mechanisms underlying aortic valve malformations and the pathogenesis of CAVD using genetically modified mouse models and patient-induced pluripotent stem cells may identify new effective therapeutic targets for the disease.
AB - Normal aortic valves are composed of valve endothelial cells (VECs) and valve interstitial cells (VICs). VICs are the major cell population and have distinct embryonic origins in the endocardium and cardiac neural crest cells. Cell signaling between the VECs and VICs plays critical roles in aortic valve morphogenesis. Disruption of major cell signaling pathways results in aortic valve malformations, including bicuspid aortic valve (BAV). BAV is a common congenital heart valve disease that may lead to calcific aortic valve disease (CAVD), but there is currently no effective medical treatment for this beyond surgical replacement. Mouse and human studies have identified causative gene mutations for BAV and CAVD via disrupted VEC to VIC signaling. Future studies on the developmental signaling mechanisms underlying aortic valve malformations and the pathogenesis of CAVD using genetically modified mouse models and patient-induced pluripotent stem cells may identify new effective therapeutic targets for the disease.
KW - Animal model
KW - Bicuspid aortic valve
KW - Cell signaling
KW - Heart valve development
KW - Valve endocardial cell
KW - Valve interstitial cell
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U2 - 10.1146/annurev-physiol-022516-034001
DO - 10.1146/annurev-physiol-022516-034001
M3 - Review article
C2 - 27959615
AN - SCOPUS:85013102336
SN - 0066-4278
VL - 79
SP - 21
EP - 41
JO - Annual review of physiology
JF - Annual review of physiology
ER -