Transcript
- 1. Marfan Syndrome
By Andrew Redd
2. Normal Person
3. Person afflicted with Marfan
4. Eyes
Over half of the people with Marfan experience dislocation in one
or both of the lenses of the eye.
One great problem is retinal detachment.
Most people with Marfan are nearsighted, some develop early
glaucoma (high pressure within the eye) or cataracts (the eyes lens
loses its clearness).
http://www.angeloretina.org/limited-vision/retinal-detachments/
5. Cardiovascular system
Many people with Marfan have problems with their cardiovascular
system.
As the result of faulty connective tissue, the wall of the aorta
may be weakened and stretch, this is called aortic
dilatation.
Aortic dilatation increases the risk that the aorta will tear
(aortic dissection) or rupture, causing serious heart problems or
even
pause for dramatic effect
sudden death!
http://www.amh.org/services/blank-vascular-center/aneurysms.aspx
6. Nervous system
The spinal cord and brain are surrounded by fluid contained by a
membrane called the dura, the durais composed of connective
tissue.
When someone who has Marfan gets older, the dura often stretches
and weakens, then starts to weigh on the vertebrae in the lower
spine and wear away the bone that lay around the spinal cord.
This is known as duralectasia.
These changes may cause merely mild discomfort; or they may lead to
radiated pain in the abdomen; or to pain, numbness, or weakness in
the legs.
7. Cause
Marfan syndrome is a genetic disease caused by a mutation in the
fibrillin gene.
The misshapen fibrillin produced from the mutatedgene weakens the
tendons, ligaments, and other connective tissues in the body.
Marfan is something you are born with.
A child with a parent who has Marfan has a 50% chance of getting
the disease.
Though, very rarely, a new gene defect occurs during the formation
of an egg or sperm cell.
This makes it possible for two unaffected parents to have offspring
with Marfan.
There is only a 1 in 10,000 chance of this occurring.
8. Treatment
There is no cure for Marfan syndrome
Skeletal- annual evaluations are important to detect changes in the
spine or sternum.
Eyes- Regular and early eye examinations are necessary to identify
and correct any vision problems brought about by Marfan. Surgery
may be needed but glasses and contact lenses are usually
sufficient.
9. Treatment cont.
Heart and blood vessels Echocardiograms and regular checkups help
the doctor evaluate the size of the aorta and how the heart is
working.
The earlier a possible problem is identified and treated, the risk
of life-threatening complications decreases.
Those afflicted with heart problems are suggested to wear a medical
alert band and to report to the emergency room if they experience
back, chest, or abdominal pains.
Some heart or valve problems can be managed with drugs such as
beta-blockers, which may help decrease stress on the aorta.
In other cases, surgery to replace a valve or repair the aorta may
be needed.
10. Bibliography
Shiel, William, Jay Marks, Melissa Conrad Stoppler, Charles Davis,
Dennis Lee, and Leslie Schoenfield. "Marfan Syndrome Symptoms,
Causes, Diagnosis, and Treatment on MedicineNet.com." MedicineNet -
Health and Medical Information Produced by Doctors. N.p., n.d. Web.
23 Mar. 2011.
http://www.medicinenet.com/marfan_syndrome/article.htm
Haldeman-Englert, Chad. "Marfan syndrome - PubMed Health." National
Center for Biotechnology Information. N.p., 10 May 2010. Web. 23
Mar. 2011.
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455/
11. THE END
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