Marfan Syndrome and Related Disorders

Your body uses connective tissues to provide the framework and support to maintain your structure. Fibrillin is a protein that helps gives your connective tissue strength and elasticity.

People with Marfan syndrome do not produce fibrillin, affecting the connective tissue for the:

  • Skeletal system (bones and ligaments)
  • Cardiovascular system (heart and blood vessels)
  • Eyes
  • Lungs
  • Skin

Marfan syndrome is estimated to occur in at least 1 in 5000 persons, and impacts all races and ethnic groups. Although present at birth, it may not be diagnosed until adolescence or young adulthood. Left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years. However, with focused and appropriate medical and surgical intervention, patients with Marfan syndrome who have cardiovascular abnormalities can expect to live long and rewarding lives, similar to people without connective tissue disorders.

The cardiovascular issues associated with Marfan syndrome are by far the most serious, potentially causing life-threatening situations and death. Patients with Marfan syndrome can face:

  • Aneurysm (enlargement or ballooning in the aortic wall)
  • Dissection (tear within the inner wall of the aorta)
  • Rupture of the aorta and/or aortic root
  • Mitral valve disease

Meet the Marfan Syndrome Team

Northwestern Medicine Bluhm Cardiovascular Institute is a nationally recognized destination for those who require highly specialized cardiovascular care.
Meet the Team
Downtown Chicago

Related Resources

  • Marfan syndrome and cardiac complication webcast transcript (PDF): In this webcast, S. Chris Malaisrie, MD, will discuss the two main cardiac problems: the need for valve repair or replacement and the need for aortic aneurysm replacement. Learn how early diagnosis, medical management and surgery can prevent an aortic rupture and extend the lifespan of these individuals to approximately 70 years of age.
  • The Marfan Foundation: The most credible source of information about Marfan syndrome is The Marfan Foundation. Please visit The Marfan Foundation's website.
  • Marfan Syndrome in Children: Marfan syndrome is a genetic disorder that affects the body's connective tissue.