Developmental Mechanisms of Aortic Valve Malformation and Disease

摘要: Normal aortic valves are composed of valve endothelial cells (VECs) and interstitial (VICs). VICs the major cell population have distinct embryonic origins in endocardium cardiac neural crest cells. Cell signaling between VECs plays critical roles morphogenesis. Disruption pathways results malformations, including bicuspid (BAV). BAV is a common congenital heart disease that may lead to calcific (CAVD), but there currently no effective medical treatment for this beyond surgical replacement. Mouse human studies identified causative gene mutations CAVD via disrupted VEC VIC signaling. Future on developmental mechanisms underlying malformations pathogenesis using genetically modified mouse models patient-induced pluripotent stem identify new therapeutic targets disease.