Diagnosing Marfan Syndrome?
Only a doctor can properly diagnose someone with Marfan syndrome. They will discuss the family history with the patient and give them a full physical examination that will include examining the skeletal system, heart, and eyes. Marfan syndrome is a genetic condition, so the doctor may also have their patient undergo genetic testing. A physical examination is usually enough for a doctor to make a diagnosis.
There are several tests that a doctor can perform. An echocardiogram will be performed to see if the aorta is enlarged or has any tears. An electrocardiogram will be used to examine the heart rate and rhythm. A magnetic resonance imaging test, or MRI, can be used to check for any unusual curvature or any other problems in the spine. Finally, an eye examination will be performed to check for nearsightedness, cataracts, and glaucoma.
