Print this page
 Email this page

 Connect with UMMC on:
 Twitter
 Facebook
 YouTube
iPhone

 Share this page:

Bookmark and Share

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Ask the Expert

Dr. Miller’s Bio Image

Get answers to your heart disease prevention questions.

Dr. Miller’s Bio | Q&A Archive

Note: This is for informational purposes only. Doctors cannot provide a diagnosis or individual treatment advice via e-mail. Please consult your physician about your specific health care concerns.

Video details

[ Flash player icon ] Please install flash player to see this video.

Heart Center Virtual Tour

Click to take a virtual tour

Related Content


 

Marfan syndrome - Overview

Definition of Marfan syndrome:

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes, incidence, and risk factors:

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

A problem with this gene leads to changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.

In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.

  • Reviewed last on: 5/15/2008
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Pyeritz RE. Inherited Diseases of Connective Tissue. In: Goldman L, Ausiello D. Goldman: Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 281.

Robinson LK, Fitzpatrick E. Marfan Syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 700.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com