Humans with elastin gene mutation and elastin deficiency, found in supravalvular aortic stenosis and Williams–Beuren syndrome, express a similar phenotype in large arteries, often associated with excessive smooth muscle cell proliferation and arterial hypertrophy and stenosis, resulting in blood flow obstruction [12,14,15,16,19,21]. Here, ELN is linked to supravalvular aortic stenosis.