Supravalvular aortic stenosis (SVAS) is a cardiovascular disorder that occurs in 1-2% of the general population. Elastin haploinsufficiency has been identified as a possible cause of SVAS, and is shown to alter the mechanical microenvironment of the vascular wall and result in narrowing of large arteries. The objective of our study is to determine the temporal effects of elastin haploinsufficiency on the functional properties of aortic/valvular tissue and the aortic/valvular interstitial cell phenotype, using the elastin deficient mouse model (ELN+/-).

Our current research involves quantifying and comparing the spatial expression of α-SMA and Smemb (markers of differentiated and undifferentiated SMCs, respectively) in the ELN+/- and wild type (ELN+/+) mice cell culture and paraffin-embedded valve/aorta samples at various time points. Differences in cell proliferation and migration, formation of network, expression of angiogenesis related growth factors between transgenic and wild type mice are also estimated. Aortic stiffness is determined using an electromagnetic testing system. Our hypothesis is to analyze the mechanical properties of aortas and valves, and suggest the potential roles of specific cell markers in the progression of pathological abnormalities and developmental alterations, in the elastin-deficient aortas/valves.