Marfan syndrome is caused by mutations in the fibrillin 1 gene. These genetic mutations produce proteins in the connective tissue that do not function properly and can lead to abnormalities of many parts of the body, including the skeleton and the eyes. This poorly functioning protein can lead to problems with the functioning of heart valves, including leakage of the aortic or mitral valves, called “insufficiency” or “regurgitation.” When the connective tissue in the wall of blood vessels is affected, people with Marfan syndrome can develop an enlarged aorta, which can lead to aneurysm and life-threatening rupture. Early diagnosis and medical management is key to slowing the development of aortic enlargement.
Comer Children's is home to a multidisciplinary Marfan Syndrome Clinic, where cardiologists collaborate with orthopaedic surgeons, ophthalmologists, geneticists and other specialists to provide the most advanced, comprehensive care possible.