Navigate Up

Full Library - A-Z Index


Print This Page

Marfan syndrome

Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.

Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes

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

The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.

Other areas of the body that are affected include:

  • Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
  • The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
  • The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
  • The skin
  • Tissue covering the spinal cord

In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of patients have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.

Symptoms

People with Marfan syndrome are very often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.

Other symptoms include:

  • A chest that sinks in or sticks out, called funnel chest (pectus excavatum ) or pigeon breast (pectus carinatum )
  • Flat feet
  • Highly arched palate and crowded teeth
  • Hypotonia
  • Joints that are too flexible (but the elbows may be less flexible)
  • Learning disability
  • Movement of the lens of the eye from its normal position (dislocation)
  • Nearsightedness
  • Small lower jaw (micrognathia)
  • Spine that curves to one side (scoliosis )
  • Thin, narrow face

Exams and Tests

The doctor will perform a physical exam. The joints may move around more than normal. There may also be signs of:

  • Aneurysm
  • Collapsed lung
  • Heart valve problems

An eye exam may show:

The following tests may be performed:

An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves.

Treatment

Vision problems should be treated when possible.

Monitor for scoliosis, especially during the teenage years.

Medicine to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the aortic root and valve.

People with Marfan syndrome who have heart valve conditions may need to take antibiotics before dental procedures to prevent endocarditis (infection of the valves). Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

Support Groups

National Marfan Foundation -- www.marfan.org

Outlook (Prognosis)

Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s. Good care and surgery may further extend lifespan.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family..

Prevention

Spontaneous new gene mutations leading to Marfan (less than 1/3 of cases) cannot be prevented. If you have Marfan syndrome, see your doctor at least once every year.

References

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 268.

Doyle J, Dietz III H. Marfan syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 693.

Updated: 5/13/2014

Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, Washington. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com