Marfan Syndrome is an inherited disorder due to a defective form of the Fibrillin-1 gene that produces a protein that is an essential component of connective tissue in the body.
Problems with the aorta, the largest blood vessel in the body, presents the major challenge and is responsible for the most significant complications and mortality. These complications include the development of aortic aneurysm (dilation of the aorta to the point where it can rupture suddenly), dissection (tear in the lining of the aorta, an emergency), and aortic regurgitation (a leaking heart valve, putting extra strain on the heart).
90% of those with Marfan Syndrome develop heart or aortic disease, and in many cases manifests in young people often necessitating complex cardiac and aortic surgery. Often, surgery arises as an emergency due to aortic dissection or symptomatic aneurysm, but with increasing awareness among both doctors and the population in general, there is now a move towards earlier surgical intervention when aortic root size is increasing on serial ECHO (ultrasound of the heart) studies. Aortic root replacement then removes the potential risk of dissection, ascending aortic aneurysm formation and aortic regurgitation.
There is also an established benefit with the use of drugs called beta-blockers to retard aortic dilation in those with documented aortic enlargement. However, there is currently no treatment to delay or attenuate the development of aortic disease.