Marfan syndrome

Diagnosis

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.