How Do Doctors Diagnose It?
Several different types of doctors must be involved in diagnosing Marfan syndrome. They include a geneticist (a doctor who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopedist (bone doctor). A geneticist will ask whether anyone else in the family had similar symptoms and may even ask if anyone in your family died early of a heart-related death. Then the geneticist will probably do some pretty painless exams, such as taking detailed skeletal measurements, including arm span (hold your arms out to your side — that’s your arm span). This test can help because people with Marfan syndrome often have an arm span that’s greater than their height. The cardiologist will also do some painless tests. He or she may listen to the heart with a stethoscope to check for a murmur, then may order an X-ray of the chest, an electrocardiogram (or EKG, which measures electrical impulses in the heart), and an echocardiogram (a test that us
