Elastin (ELN) gene (MIM 130160) was described to have a role in arterial development; it was shown that interruption of ELN expression leads to profound arterial thickening and increased risk of obstructive vascular disease [36], furthermore, ELN gene mutation is causative for isolated supravalvular aortic stenosis (SVAS), and can cause autosomal dominant SVAS [37, 38]. The gene discussed is ELN; the disease is supravalvular aortic stenosis.