TBX20 and thoracic aortic aneurysm: As a result, four rare deleterious TBX20 variants were identified in the seven unrelated patients with congenital BAV/thoracic aortic aneurysm, including p.Ile39Met (c.117C>G) in one patient, p.Ser125* (c.374C>A) in one patient, p.Asp176Ala (c.527A>C) in four unrelated patients, and p.Pro178Leu (c.533C>T) in one patient.