McKellar et al. identified two novel missense mutations (A1243V and P1390T) in NOTCH1 in 10.4% of patients with a BAV and thoracic aortic aneurysm that were not present in patients with a BAV and normal aorta or patients with a trileaflet aortic valve and thoracic aortic aneurysm[70]. This evidence concerns the gene NOTCH1 and thoracic aortic aneurysm.