The severity of the effects of Marfan syndrome vary, meaning that some people with the syndrome have more serious effects than others. This variability can occur even within one family. Marfan syndrome sometimes is difficult to diagnose because the features and severity of the disorder can differ greatly among affected individuals. Also, certain other disorders have features that overlap with those of Marfan syndrome. In some cases, genetic testing of a blood sample may be recommended to help confirm the diagnosis.
Genetic testing is more likely to aid in diagnosis in families with multiple affected members.
Advances in treatment have greatly improved the outlook for children and adults with Marfan syndrome. Today, the life expectancy of individuals with the disorder who receive proper treatment is about 70 years. Most of the problems associated with Marfan syndrome can be managed effectively, as long as they are diagnosed early. The disorder usually is treated by a team of specialists, overseen by a single doctor who knows all of its aspects. The greatest danger is death from a sudden split in the aorta.