Saturday, February 27, 2010
Learning about Marfan Syndrome
1:37 PM | 
Diposkan oleh
HermantoMarfan syndrome is caused by mutation in gene for structural molecules of the extracellular matrix especially fibrilin-1 (FBN1) on chromosome 15 that lead abnormalities in microfibrillar assembly and stability. This disease also reduce microfibrils in elastic or non elastic tissues.
Incidence of Marfan Syndroem is about 1 in 10,000 in most racial and ethnic groups. The disorder is inherited as an autosomal dominant trait. At least 25 percents of people wih Marfan Syndrome do not have an affected parent, and therefore probably represent new mutations.
The specific diagnoses of Marfan Syndrome will continue to be made in the clinic rather than the molecular genetics laboratory.
All of clinical manifestation depend on whether the molecular defect resides in a gene for collagen, fibrillin, elastin, or other matrix protein, the bones, ligaments, joints, blood vessels, eyes, or skin are affected to various degrees.
Clinical features are tall stature with long and thin extremities, low subcutaneous fat, arm span >8cm excess of height, arachnodactyly, long and narrow face, high arched palate, dental crowding, scoliosis, pectus excavatum or carinatum, pes planus, protrusion acetabuli, joint laxity. Treatment for this disorder are corrective surgery for scoliosis, orthodontia for dental crowding.
This syndrome also can manifest aneurysma dilatation of aorta ascending, aortic regurgitation, mitral valve prolapse, aortic dissection. The treatment for this manifestation are β-adrenergic blockade, composite aortic graft.
Another clinical features are ectopia lentis, myopia, flat cornea, retinal detachment. The treatment for this disorder are corrective lenses.
