Living with Marfan Syndrome

Posted Wednesday, February 17, 2021

 

Did you know? Approximately 1 in 5,000 people are affected by Marfan Syndrome.

Features of Marfan Syndrome are most often found in the heart, blood vessels, bones, joints and eyes.

01 | Introduction

Marfan Syndrome is a genetic condition that affects the connective tissues in various parts of the body. Connective tissue holds all the body’s cells, organs and tissue together, and plays an important role in the body’s growth and development.

How does Marfan Syndrome affect the body, and how is it treated? Please read the following summary to learn more.

02 | Understand the Disease

Connective tissue is made up of proteins. As the result of a genetic defect, Marfan Syndrome patients have an increase in transforming growth factor beta protein. This protein imbalance leads to the features and symptoms of Marfan Syndrome, which include:

  • Long arms, legs and fingers and flat feet
  • Tall and thin body type
  • Curved spine
  • Sunken or protruding chest
  • Hyper flexible joints
  • Crowded teeth
  • Extreme nearsightedness
  • Heart murmurs

03 | Complications

Because Marfan Syndrome can affect almost any part of the body, a variety of complications can arise, some of which are serious. The most dangerous complications involve the heart and blood vessels. Some examples include aortic dissection, valve malformations and aortic aneurism.

04 | Diagnosis & Treatment

Orthopedic specialists perform a thorough physical examination and medical history. Patients can also expect a variety of tests to examine different areas of concern, such as the heart, aorta and eyes. 

Treatment generally includes hypertension medication to prevent aorta enlargement and vision aids. Surgical procedures may be required in severe cases.

Learn More

For more information and supportive resources, please visit http://www.marfan.org/

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References

https://www.marfan.org/about/marfan

http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

https://ghr.nlm.nih.gov/condition/marfan-syndrome

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