Vanderbilt Medical Center - Vanderbilt Heart in Nashville, TN

Marfan Syndrome

What is Marfan syndrome?
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides a supportive framework  to the tendons, bones, ligaments, cartilage, heart valves, and many other structures. With Marfan syndrome, the connective tissue does not function as it should and many of the structures that it supports are not as stiff as they should be as a result. Marfan syndrome can affect many different parts of the body since connective tissue is present throughout the body. It can affect the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

What causes Marfan syndrome?
Marfan syndrome is caused by a mutation on the fibrillin gene.  It is usually inherited but may occur as a spontaneous event.  People with Marfan syndrome share several physical characteristics.

How is Marfan syndrome treated?
There is no actual cure for Marfan syndrome, but there is a lot that can be done to minimize and sometimes even prevent complications. Marfan syndrome is typically treated on a case by case basis. All patients with Marfan syndrome need regular visits to their cardiologist for X-rays, Doppler echo tests, and any other tests that the doctor may deem necessary. Some people may not need any significant treatment while others may need a variety of medications, including medications to lower the heart rate. It is also vital that patients with Marfan syndrome have annual evaluations to keep up with any changes in the spine or breastbone. Changes in the spine or breast bone can be disfiguring, but can also prevent the heart and lungs from properly functioning. In addition to having all of these necessary annual check ups, it is vital that patients with Marfan maintain a healthy lifestyle. Patients with Marfan syndrome are already at increased risk for lung damage, so it is very important that these people do not smoke. Regular exercise is also important to the management of Marfan syndrome, but not in contact sports such as football because of the tendency for their bones, heart valves, and eyes to be weaker.

Copyright © 2009 by Vanderbilt Medical Center    |    (615) 322-5000    |    1211 Medical Center Drive    |    Nashville, TN 37232
Vanderbilt University is committed to principles of equal opportunity and affirmative action.