How is Marfan syndrome diagnosed?

Marfan syndrome is diagnosed based on a full evaluation by a doctor familiar with the disorder. This involves the following:

• Thorough physical examination
• Complete family history
• Full eye examination
• Echocardiogram (ultrasound of the heart)
• Genetic testing for a causative mutation in the FBN1 gene can also provide helpful information
• Full eye examination in some cases