In a large BAV/TAA cohort, SMAD6 variants were specifically enriched among patients with concurrent thoracic aortic aneurysms [28,29], while NOTCH1 and ACTA2 mutations were also documented in familial or heritable forms of aortic valve disease and aortic wall pathology [30]. The gene discussed is SMAD6; the disease is thoracic aortic aneurysm.