Marfan Syndrome

Diagnosis

At Mayo Clinic, an integrated team of cardiologists and medical geneticists collaborate to diagnose Marfan syndrome. A comprehensive diagnosis will help determine the most appropriate treatment options for each patient. At Mayo Clinic, the comprehensive examination, which can usually diagnose Marfan syndrome, includes:

• Complete family history, medical history and genetic evaluation
• Complete physical examination
• Echocardiogram (sound wave picture of the heart) performed by a cardiologist
• Eye examination by an ophthalmologist
• Skeletal exam by an orthopedist

Marfan syndrome may be difficult to diagnose and is sometimes confused with other inherited disorders. Physicians should be told if a patient's relative or ancestor has or had Marfan syndrome, especially if the patient has only one or two of the condition's features.