Cardiovascular abnormalities are the major cause of morbidity and mortality in MFS and several clinically related diseases, including Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and thoracic aortic aneurysm syndrome, in which the pathogeneses are driven by dysregulated TGF-β signaling [8]. The gene discussed is TGFB1; the disease is Aneurysm - osteoarthritis syndrome.