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Tests and diagnosis
By Mayo Clinic staffMarfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar symptoms. And Marfan symptoms vary widely — both in their features and in their severity — even among members of the same family.
Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some Marfan symptoms, but not enough of them to be diagnosed with the disorder.
Diagnostic tests may include:
- Echocardiogram. This test is a sonogram of your heart. It uses sound waves to capture real-time images of your heart in motion. Echocardiograms are particularly good at telling how well your heart chambers and valves are working. To better visualize your aorta, your doctor may recommend a transesophageal echocardiogram — in which the sound waves are generated from within your body by a device threaded down your esophagus.
- Electrocardiogram (ECG or EKG). An ECG checks for heart rhythm problems, using adhesive electrodes attached to your chest.
- MRI or CT scans. These tests can help your doctor examine your aorta. MRIs use a strong magnet and radio waves to visualize soft tissues inside your body. A CT scan uses a special dye that can be seen on X-rays. The dye is injected into your vein, to produce images of your aorta.
- Slit-lamp exam. This eye test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
- Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.
- Genetic testing. Presently, there's no genetic test that can definitely establish or rule out a diagnosis of Marfan syndrome. However, you may want to consider genetic testing and genetic counseling before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.
