Because Marfan syndrome can affect so many different parts of your body, you may need to be evaluated by several different types of doctors. Mayo Clinic has established a Marfan Clinic, staffed with the appropriate medical specialists. This coordinated effort allows you to see many different doctors all within one clinic visit.
Testing may include:
- Heart imaging. Most premature deaths from Marfan syndrome are due to a rupture in the body's major artery (aorta). Mayo Clinic specialists image the entire aorta in all people suspected of having Marfan syndrome and do regular follow-up imaging for people with confirmed Marfan syndrome. Mayo has radiologists with special training in imaging aortic disorders.
- Skeletal imaging. These tests can detect bone-related conditions associated with Marfan syndrome, such as an abnormal curvature of the spine (scoliosis) or a sunken or protruding breastbone.
- Eye exam. An ophthalmologist will check for eye-related complications of Marfan syndrome including lens dislocation, cataracts, detached retina and glaucoma.
- Genetic testing. The results can help pinpoint your specific connective tissue disorder, screen family members and guide treatment.