Grant: Project Grant

Marfan syndrome (MFS) is a relatively common genetic disorder caused by mutations in the gene encoding fibrillin-1 (FBN1). The main complication of MFS is aortic dilation, which leads to aortic dissection, aneurysm and death at around 40 years old if untreated. Therefore, reducing blood pressure is believed to be key to MFS patient management by decreasing stress to the aorta. Our most recent work suggests that one of the two most common blood pressure medications does not alter MFS aortic disease by reducing blood pressure but rather by improving endothelial function, also termed vessel health. We propose to identify the best medication capable of increasing endothelial function in MFS patients and show that patients with increased endothelial function show less aortic diseases than non-endothelial function responsive patients.