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Clinical Services at Rush Rush Connective Tissue Disease Clinic - Marfan Syndrome

Marfan Syndrome

What is the cause of Marfan syndrome?
What are the clinical manifestations of Marfan syndrome?
How is the diagnosis of Marfan syndrome made?
What is the management for Marfan syndrome?
What can a person with Marfan syndrome do to maintain a healthy lifestyle?
 

What is the cause of Marfan syndrome?

Marfan's disease is an inherited genetic disorder of the connective tissue in which fibrillin, a protein making up collagen, is defective. Collagen is the main component of connective tissue and is the most abundant protein in human bodies. Collagen is found in ligaments, tendons and skin, as well as in cartilage, bone and blood vessels. There is a high degree of clinical variability in the presentation of Marfan syndrome.

What are the clinical manifestations of Marfan syndrome?

  • Nearsightedness (myopia) due to displacement of lens
  • Hyperflexible joints [Picture 1]
  • Long, disproportionate extremities [Picture 2]
  • Cardiac valve problems (aortic root dilation, mitral valve prolapse)

How is the diagnosis of Marfan syndrome made?

The clinical diagnosis of Marfan syndrome is made based on family history, characteristic physical findings, radiographic features and, at times, molecular genetic testing.

What is the management for Marfan syndrome?

As this is an inherited condition, there is no cure. Management is directed from a multidisciplinary perspective to include medical and rehab physicians, cardiologists, ophthalmologists, orthopedic and cardiothoracic surgeons and physical therapists.

Importance is placed on surveillance testing for potential cardiac and ophthalmological complications. Annual testing of the eyes and heart is recommended. Those with heart problems should wear a medical alert bracelet. Some heart problems can be managed with drugs such as beta blockers. If there is risk of aortic rupture, surgery may be needed.

What can a person with Marfan syndrome do to maintain a healthy lifestyle?

  • Regular follow-up, including routine cardiovascular, eye and skeletal exams
  • Participate in some activity/exercise, but only after clearance from a cardiologist
  • If pregnant, the risk of cardiac complications goes up and more frequent follow-ups with heart testing are needed
  • If you have had valve surgery there is an increased risk for developing bacteria on the valve after any dental work or surgical procedure, therefore antibiotics are needed prior to these procedures


   

 





Contact Name
Rush Connective Tissue Disease Clinic
Contact Phone
(312) 563-2800
Contact E-mail
contact_rush@rush.edu



Location
Orthopedic Building
1611 W. Harrison St., Suite 510
Chicago, IL 60612



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