Marfan Support and Information (NSW)
Email: mailto:mail@marfan.net.au
Web: http://www.marfan.net.au/
What is Marfan Syndrome?
Marfan Syndrome is an inheritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group.
What medical problems are associated with Marfan Syndrome?
The Cardiovascular System
The most serious problems associated with Marfan Syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of the mitral valve or irregular heart rhythm.
In addition, the aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with Marfan Syndrome. This widening is progressive and can cause leakage of the aortic valve or tears (dissection) in the aorta wall. When the aorta becomes greatly widened, or tears, surgical repair is necessary.
The Skeleton
Skeletal manifestations common in people with Marfan Syndrome include curvature of the spine (scoliosis), loose jointedness and disproportionate growth usually, but not always, resulting in tall stature.
The Eyes
People with Marfan Syndrome are often nearsighted (myopic). In addition, about 50% have dislocation of the ocular lens.
How is the Marfan Syndrome Diagnosed?
Marfan Syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the Syndrome.
An accurate diagnosis of Marfan Syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder.
This includes:
* Echocardiogram, a sound wave picture of the heart by a cardiologist.
* Slit-lamp eye examination by an ophthalmologist
* Skeletal examination
* Complete family history
The recent identification of the chromosome, gene and component of connective tissue (fibrillin) in which the mutation for Marfan Syndrome is located offers great promise for diagnosis of the condition. It is hoped that as better understanding of fibrillin is gained, earlier and more accurate diagnosis of Marfan Syndrome will be possible.
How is Marfan Syndrome treated?
People affected by Marfan Syndrome should be treated by a physician familiar with the condition and how it affects all the body systems. There is no cure for the disorder yet, but careful medical management can greatly improve the prognosis and lengthen the life span.
Every affected person should work closely with his/her physician(s) for their customised treatment including the following:
* Annual echocardiogram to monitor the size and function of the heart and aorta.
* Initial eye examination with a slit-lamp to detect lens dislocation, with periodic follow-up with an ophthalmologist.
* Careful monitoring of the skeletal system, especially during childhood and adolescence
* Beta-blocker medications may be prescribed to lower blood pressure and, consequently, reduce stress on the aorta
* Antibiotics may be prescribed prior to dental or genito-urinary procedures to reduce the risk of infection in people who experience mitral valve prolapse.
* Lifestyle adaptions, such as the avoidance of strenuous exercise and contact sports are often necessary to reduce the risk of injury to the aorta.
What causes Marfan Syndrome?
A single abnormal gene causes Marfan Syndrome. Usually, this gene is inherited from a parent who is also affected. Approximately one quarter of the cases occur as a result of a spontaneous mutation.
Marfan Syndrome is autosomal dominant, indicating that someone with the condition has a 50-50 chance that any offspring will inherit it.
Other Marfan Syndrome Groups can be accessed via links in the NSW site at the top of this document.
*Source: www.dircsa.org.au/docs/marfan.htm
