How is Marfan Syndrome Diagnosed?

Marfan Syndrome cannot be diagnosed by a specific test although a genetic analysis may be useful to diagnose a patient they are time consuming and often the results are indecisive either way. To diagnose a patient doctors observe medical history including families with the disease or unexplained, heart related deaths in the family, an evaluation of the skeletal frame for the ratio of limb to trunk size, a slit-lamp eye examination, echocardiogram heart tests, and ultra sounds of the heart. Each patient must have three body systems affected by the specific problems related to Marfan syndrome to be diagnosed. If a patient has a family history of the disease, only two body systems must be affected to be diagnosed.