Marfan Syndrome

Posted by e-Medical PPT Friday, September 17, 2010
Marfan syndrome is a genetic disorder of the connective tissue.It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.People have a pair of FBN1 genes.This syndrome can run from mild to severe.There are more than 30 other clinical features that are variably associated with the syndrome, most involving the skeleton, skin, and joints.The most serious complications are the defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
Many individuals with Marfan syndrome grow to above average height. Some have long slender limbs with long fingers and toes (arachnodactyly).Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, hammer toes, stooped shoulders, unexplained stretch marks on the skin.
Marfan syndrome can also seriously affect the eyes and vision. Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) (in 80% of patients) also occurs.Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.Early onset glaucoma can be another related problem.
The signs of regurgitation from prolapse of the mitral or aortic valves result from cystic medial degeneration of the valves which is commonly associated with Marfan's syndrome.Weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, is a surgical emergency. And Marfan syndrome is a risk factor for spontaneous pneumothorax.
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