Marfan Syndrome Diagnosis

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You will be diagnosed with Marfan syndrome based on your medical and family history, a physical exam, and test results.

If you are diagnosed with Marfan syndrome, your parents, siblings, and children should be screened for the disorder, even if they do not have symptoms.

To screen for Marfan syndrome, your healthcare provider may do a physical exam, including a check for certain features often found in people who have the condition.

Your healthcare provider will ask about symptoms, your medical history, and your family’s medical history. For example, you may be asked whether any of your family members have Marfan syndrome, or have had an aortic aneurysm or heart problems.

Your provider will look for signs of Marfan syndrome. For example, they may check the curve of your spine and the shape of your feet.

Your doctor may recommend one or more of the tests below to help diagnose Marfan syndrome.

• Lung imaging tests, such as a chest CT scan and chest MRI, create pictures of the organs and blood vessels in your chest. A chest CT scan may also check the connective tissue around your spinal cord.
• Echocardiography (echo) views and measures the size of your aorta and checks the heart’s valves.
• Genetic testing uses blood tests to detect mutations in the FBN1 genes, even if you have no symptoms. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition.
• A slit-lamp exam finds out whether you have an eye lens that is out of place, cataracts, or a detached retina. An eye specialist or ophthalmologist uses the slit lamp, a microscope with a light, to check your eyes.