Since the TGFβ signaling pathway is thought to play a crucial role in the pathophysiology of thoracic aortic aneurysms and the therapeutic implications hereof, it is of utmost importance to unravel the precise role of the TGFβ signaling pathway in aortic disease and understand the seemingly paradoxical upregulation of this pathway in LDS patients. The gene discussed is TGFB1; the disease is thoracic aortic aneurysm.