The UMC Marfan Syndrome Clinic is a multidisciplinary center devoted to the evaluation, management and treatment of inherited connective tissue disorders, primarily the Marfan syndrome and the Ehlers-Danlos syndromes. In Marfan syndrome the protein fibrillin does not function properly, leading to weakness of connective tissues. In the eyes this may result in dislocated lenses. In the heart this can lead to enlargement of the aortic root [which can lead to aneurysms and dissections], and often mitral valve prolapse. Stretch marks may be apparent on the skin (sometimes extensively), and the joints tend to be very flexible. There may be scoliosis and other spine problems, or deformities of the chest. The lining of the spinal cord is sometimes enlarged, which can cause neurologic problems. Although a substantial number of cases are due to new mutations in the fibrillin gene, all descendants of a Marfan syndrome patient have a 50/50 chance of inheriting the mutated gene, and may be affected more severely or less severely.

The most worrisome problem affecting patients is slowly progressive enlargement of the aorta, which can lead to dissection (tearing) of the aorta, which can be fatal. The size of the aortic root should be monitored every six to twelve months with an echocardiogram or MRI of the chest. Treatment with medications called beta-blockers has been shown to reduce the rate of increase in the aortic root size, decreasing the need for aortic root replacement surgery (i.e., a "composite graft"). Composite graft surgery is recommended on an elective basis before the aortic root reaches a size felt to be at risk for dissection.

Pregnancy puts a special strain on the aorta of women with Marfan syndrome, and they should be monitored in a high-risk pregnancy program by physicians familiar with Marfan syndrome.

The UMC Marfan Syndrome Clinic is staffed by physicians skilled in the clinical diagnosis and management of Marfan syndrome. Specialists in the fields of cardiology, cardiac surgery, ophthalmology, high-risk obstetrics and radiology are available at the University of Mississippi Medical Center.

An excellent resource for more information is the National Marfan Foundation , a patient support group [They can also be contacted at 1-800-8-MARFAN].