Luyckx and colleagues [62] performed a rare variation burden assay utilizing the sequence data of 637 cases affected with congenital BAV/thoracic aortic aneurysm for two (TBX20 and DGCR6) of the seven candidate genes carrying initially verified copy number variations (duplications and/or deletions), which revealed a suggestive genetic role for TBX20 in the etiology for BAV/TAA. Here, TBX20 is linked to thoracic aortic aneurysm.