Marfan Syndrome

What is Marfan Syndrome?

Currently, roughly 1 in 5,000 people have Marfan syndrome (MFS), which includes a diverse group of men and women of all races and ethnicities. Marfan Syndrome affects the connective tissue in the body, and this conditions can affects multiple different regions in the body including the heart, blood vessels, bones, joints and eyes.

The University of Chicago Medicine Marfan Syndrome and Connective Tissue Program has been nationally recognized as a center of excellence (COE) for its exceptional work in the diagnosis and management of Marfan syndrome and related connective tissue disorders in adults and children. As one of only two centers of excellence in Illinois, this designation demonstrates our commitment to providing you the highest quality care and ensuring that you receive the comprehensive, personalized treatment you deserve.

What causes Marfan syndrome?

Marfan syndrome is caused by a genetic change in the gene coding for Fibrillin-1. The majority of patients, (75% or 3 out of 4 people) will inherit the genetic problem from one of their parents. There is a 50% chance that a person with Marfan syndrome will pass the genetic change to their child.

In some cases, an individual will be the first in their family to develop Marfan Syndrome. This occurs in 25% of cases and results from a new random spontaneous mutation.

Marfan Syndrome Risks and Complications

Marfan syndrome (MSF) is not one-sizes-fits-all. This condition can range from mild to severe, affecting different parts of the body. Because MFS is life-long condition however, the symptoms can and do change with age, with many become more pronounced over time.

Our UChicago Medicine Marfan Syndrome and Connective Tissue Program has expertise is diagnosing and treating a wide range of conditions that impact MFS patients:

Marfan Syndrome Clinics

The Marfan and Related Connective Tissue Disorder Program at University of Chicago is an intricate part of our Center for Aortic Diseases. Our specialists see both pediatric and adult patients throughout Chicago, the suburbs, northern Indiana and southern Wisconsin. It has also become a referral center for international patients seeking specialized Marfan care from around the world.

Research and Clinical Trials

In addition to being a clinical center of excellence, our providers are involved in multiple national research initiatives, including ground breaking work evaluating the effects of aortic wall stiffness, flow patterns and risk for future aortic complications.