Marfan Syndrome - How Is Marfan Syndrome Diagnosed? - Diagnosis
Your doctor will diagnose Marfan syndrome based on your medical and family history, a physical exam, and test results. No single test can diagnose Marfan syndrome, so doctors use a set of guidelines called the Ghent criteria to help. The Ghent criteria include whether the diameter of your aorta is larger than normal, whether your eye lens has ever moved out of place, whether you have certain physical signs of Marfan syndrome, and sometimes genetic testing.
If you are diagnosed with Marfan syndrome, all of your first-degree relatives, including parents, siblings, and children, should be screened for the disorder, even if they do not have signs and symptoms.
Medical and family history
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Marfan Syndrome - How Is Marfan Syndrome Diagnosed?
Your doctor will ask about signs and symptoms, your medical history, and your family’s medical history. For example, your doctor may ask whether any of your family members have Marfan syndrome, have had an aortic aneurysm, or have had heart problems.
Physical exam
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Marfan Syndrome - How Is Marfan Syndrome Diagnosed?
During the physical exam, your doctor will look for signs of Marfan syndrome. For example, he or she may check the curve of your spine and the shape of your feet.
Diagnostic tests and procedures
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Marfan Syndrome - How Is Marfan Syndrome Diagnosed?
Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome:
- Chest CT scan to check your heart valves and aorta and possibly the connective tissue around your spinal cord
- Chest MRI to create detailed pictures of the organs in your chest, including your heart, lungs, and blood vessels
- Echocardiography (echo) to view and measure the size of your aorta or check the heart’s valves
- Genetic testing to detect mutated FBN1 genes. Genetic testing involves blood tests to detect mutations in the FBN1 genes. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition. Sometimes testing for an abnormal FBN1 gene can help tell whether you have Marfan syndrome if you have other signs and symptoms.
- Slit-lamp exam to find out whether you have an eye lens that is out of place, cataracts, or a detached retina. An eye specialist or ophthalmologist uses a slit lamp, a microscope with a light, to check your eyes.