The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the syndrome.
An accurate diagnosis of the Marfan syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder. This includes:
Echocardiogram, a sound wave picture of the heart by a cardiologist.
Slit-lamp eye examination by an ophthalmologist.
Skeletal examination by an orthopedist.
Complete family history.
The identification in 1991 of the chromosome, gene and component of connective tissue (fibrillin) in which the mutation for the Marfan syndrome is located offers great promise for the diagnosis of the condition. It is hoped that as a better understanding of fibrillin is gained, earlier and more accurate diagnosis of the Marfan syndrome will be possible.
