Marfan Syndrome (cont.)
What research is being conducted to help people with Marfan syndrome?
Scientists are approaching research on Marfan syndrome from a variety of
perspectives. One approach is to better understand what happens once the genetic
defect or mutation occurs. How does it change the way connective tissue develops
and functions in the body? Why are people with Marfan syndrome affected
differently? Scientists are searching for the answers to these questions both by
studying the genes themselves and by studying large family groups affected by
the disease. Newly developed mouse models that carry mutations in the fibrillin
gene may help scientists better understand the disorder. Animal studies that are
preliminary to gene therapy are also under way.
Other scientists are focusing on ways to treat some of the complications that
arise in people with Marfan syndrome. Clinical studies are being conducted to
evaluate the usefulness of certain medications in preventing or reducing
problems with the aorta. Researchers are also working to develop new surgical
procedures to help improve the cardiac health of people with Marfan syndrome.
Where can people find additional
information about Marfan syndrome?
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Phone:
301-495-4484 or 877-22-NIAMS (226-4267) (free of charge)
TTY: 301-565-2966
Fax:
301-718-6366
E-mail: niamsinfo@mail.nih.gov
www.niams.nih.gov
NIAMS provides information about various forms of arthritis and rheumatic
disease and bone, muscle, joint, and skin diseases. It distributes patient and
professional education materials and refers people to other sources of
information. Additional information and updates can also be found on the NIAMS
Web site.
National Human Genome Research Institute (NHGRI)
National Institutes of
Health
9000 Rockville Pike
Bethesda, MD 20892
Phone: 800-411-1222 (free of
charge) (for information about entering a clinical study)
E-mail: prpl@mail.cc.nih.gov
NHGRI is conducting a clinical study involving men and women who have Marfan
syndrome to identify responsible genes and which gene changes cause specific
medical problems. They are also conducting medical tests that will lead to
earlier detection of the signs and symptoms of Marfan syndrome and establishment
of a reliable diagnosis.
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050-2023
Phone: 800-8-MARFAN (862-7326) (free of charge)
Fax: 516-883-8040
E-mail: staff@marfan.org
www.marfan.org
This organization helps people who have Marfan syndrome and related
connective tissue disorders. It provides information and materials about the
disorder and how to seek appropriate medical care. It supports research and
promotes public awareness of Marfan syndrome. The Foundation can also provide
the names of doctors who diagnose and treat Marfan syndrome.
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Phone:
800-AHA-USA1 (242-8721) (free of charge)
E-mail: inquiries@heart.org
www.americanheart.org
The American Heart Association has a fact sheet on its Web site that
describes the blood vessel and heart valve complications of Marfan syndrome. It
is also a source of information on precautions doctors and other health
professionals must use in treating patients who have heart problems associated
with Marfan syndrome.
- Marfan syndrome an inherited connective tissue
disease.
- The disorder is caused by a defect in a gene that
produces a protein component of connective tissue.
- Marfan syndrome can affect the skeleton, eyes, heart
and blood vessels, nervous system, skin, and lungs.
- There is no specific test for Marfan syndrome.
- There is no cure for Marfan syndrome.
- Treatment depends on which body systems are affected.
SOURCE: National Institutes of Health, Department of Health & Human Services, National Institute of Arthritis and Musculoskeletal and Skin Diseases, www.niams.nih.gov
Last Editorial Review: 8/29/2006
Heart RSS