Marfan syndrome

Marfan syndrome is sometimes abbreviated as MFS, but is most often referred to by its full name.

Around 1 in 5,000 to 1 in 10,000 individuals worldwide have Marfan syndrome.

Heart issues are generally the most serious problems for people with Marfan syndrome such as enlarged or bulging aorta (aortic aneurysm), separation the aorta's layers that can cause it to tear (aortic dissection), and mitral valve issues. They are the most common cause of early death for patients with Marfan syndrome. With proper medical management, the life expectancy for a person with Marfan syndrome is close to that of the general population.

Marfan syndrome is a connective tissue disorder. Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. Marfan syndrome also may cause swelling of the membrane that surrounds the brain and spinal cord leading to lower back and leg pain, abdominal pain, and headaches. People with Marfan syndrome are also at a higher risk for breathing problems, such as shortness of breath caused by differences in the formation of the spine and breastbone.

Marfan syndrome is panethnic in that it appears in people all around the world and can be found in individuals from all ethnic and racial backgrounds. Having said this, there is one genetic mutation in the FBN1 gene that is seen more often in the Netherlands.