Marfan Syndrome

Diagnosis

Diagnosing Marfan syndrome can be a challenge because it has features similar to other connective tissue disorders, such as Loeys-Dietz syndrome and Ehlers-Danlos syndrome. Most people inherit the genetic abnormality from a parent. But in about 25 percent of cases, the genetic mutation occurs spontaneously at conception.

To confirm a diagnosis of Marfan syndrome, certain combinations of physical signs, family history or abnormal genetic testing must be present. Some of these features develop with age, so Marfan syndrome can be difficult to diagnose in children. At Mayo Clinic, children with suspected features of Marfan syndrome are examined at least during preschool, before puberty and at age 18.

Your Mayo Clinic specialist will start with a detailed family health history and a thorough physical exam. After that, Mayo's tests include:

• Heart imaging (echocardiogram, transesophageal echocardiography, magnetic resonance angiography or CT scan). 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 (X-ray, MRI, CT scan). These tests can detect painful conditions associated with Marfan syndrome, including scoliosis, pectus excavatum (sunken chest) and hip impingement.
• Eye exam. An ophthalmologist will check for 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.