A nonsynonymous variant in exon 4 of SMAD6, which corresponded to a cysteine to phenylalanine substitution at position 484 of the protein (p.C484F), was found in a patient with bicuspid aortic valve, aortic valvar stenosis, and coarctation and calcification of the aorta (Supp. The gene discussed is SMAD6; the disease is Bicuspid aortic valve.