Marfan Syndrome: Tests and Diagnosis


How do doctors diagnose Marfan syndrome?

If your child's doctor suspects Marfan syndrome might be causing some of your child's medical conditions, he or she will likely order more tests to be sure. Fibrillin-1 mutation testing may tell the doctor if your child has the gene mutation that causes Marfan syndrome.

Your child's cardiologist will perform an echocardiogram (ECHO) to examine the structure and function of the heart. This test will also give the doctor information about the size of your child's aorta.

Helpful resources

If you’d like to learn more about Marfan syndrome, visit:

Learn more about our Marfan Syndrome Clinic for the treatment of this condition.