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Marfan Syndrome
Medical Questions » Marfan Syndrome
| Name: Marfan Syndrome |
| Also known as: |
| Uncommon inherited condition that affects the skeleton, heart and eye, and occurs in all races but only in one out of every 20,000 people. |
Causes of Marfan Syndrome
Congenital. |
Symptoms of Marfan Syndrome
Characteristics include very long thin bones in the arms, legs, fingers and toes, a tall skull, excessive joint movement and a humped back. Half the patients have an eye lens that is in the wrong position, and may develop a detached retina (the light-sensitive area at the back of the eyes), which results in partial or total blindness. An abnormality in the elastic tissue of the heart valves and major arteries causes these to fail and the pumping of the heart to be inefficient. The main artery of the body, the aorta, becomes overly dilated and distorted and may eventually rupture. Heart infections (endocarditis) are common. Most patients do not have all these symptoms, as there is great variation between them. Some may be totally unaware that they are affected and just appear to be very tall and thin. |
Tests for Marfan Syndrome
Diagnosed by the characteristic appearance of the long bones on X-ray, and by assessing the heart abnormalities with echocardiograms. |
Treatment for Marfan Syndrome
The problems in the heart and aorta are controlled and corrected by both medication and surgery.
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Complications of Marfan Syndrome of its treatment
Death in middle age is common unless corrective surgery is successful. |
Likely Outcome of Marfan Syndrome
No cure, but treatment reasonably successful. |
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