Marfan Syndrome

Diagnosis

Marfan syndrome may be difficult to diagnose and is sometimes confused with other inherited disorders. It is helpful to know if a relative or ancestor has Marfan syndrome, especially if the patient has only one or two of the features.

Marfan syndrome can usually be diagnosed with an examination that includes the following:

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