Marfan syndrome is a genetic disorder of the connective tissue (the material that holds together the various structures of the body). It affects the formation and functioning of the heart valves, blood vessels, lungs, kidneys, eyes and skeleton.

Externally, Marfan is identified by a group of physical characteristics, including abnormal height, unusually long fingers, possible curvature of the spine and an off-center lens of the eye. Internally, Marfan syndrome patients have a larger and more fragile aorta, the main artery carrying oxygen-rich blood from the heart to the rest of the body. As a result, patients may develop a number of heart-related conditions, including an aortic aneurysm, aortic dissection, aortic regurgitation, and/or mitral regurgitation.

Since Marfan is a genetic disorder, there is not cure for the condition but it can be managed. Over the last three decades, the average life expectancy of Marfan patients has almost doubled, to just over 61 years of age. This increase is primarily due to better diagnostics and more aggressive management of the condition. Patients with Marfan should stay in close contact with a team of healthcare professionals, including a cardiologist (heart specialist) and an ophthalmologist (eye) surgeon to monitor their health. Certain tests may be performed yearly to make sure the aorta is not weakening, which could require surgery.

Also, Marfan syndrome patients should speak with a physician and a genetic counselor before making a decision about having children. Individuals with Marfan syndrome have a 50 percent chance of passing the mutation to each of their offspring.