Furthermore, a targeted mutational analysis of NOTCH1 demonstrated the presence of two novel mutations (p.A1343V and p.P1390T) among patients with BAV with sporadic and concomitant thoracic aortic aneurysms, providing evidence that mutations in NOTCH1 may also confer susceptibility to aortic aneurysm formation [12]. The gene discussed is NOTCH1; the disease is thoracic aortic aneurysm.