marfan syndrome…

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pectus excavatum, marfan's syndrome, marfan syndrome, inheritable disorder of connective tissue, tissue that strengthens the body's structures, disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, skin, marfan syndrome is inherited, an autosomal dominant trait, up to 30% of cases have no family history, -called "sporadic" cases, in sporadic cases, marfan syndrome is believed to result, a spontaneous new mutation, marfan syndrome, mutations, in the gene fibrillin-1, fibrillin-1 plays an important role, the scaffolding, elastic tissue, disruption of such scaffolding, by mutations in fibrillin-1, results in changes in elastic tissues, in the aorta, eye, skin, mutations in fibrillin-1 also cause overgrowth, the long bones, resulting, in the tall stature, long limbs seen in marfan patients, how this overgrowth happens is not well understood, marfan syndrome causes, skeletal defects typically, tall, lanky person, long limbs, spider-like fingers, arachnodactyly, chest abnormalities, pectus excavatum, pectus carinatum, curvature, the spine, a particular set of facial features, a highly arched palate, crowded teeth, common eye problems, nearsightedness, dislocation, the lens, the eye, most significant, the defects, in the syndrome, cardiovascular abnormalities, enlargement, dilatation, the base, the aorta, aortic root, aortic regurgitation, prolapse, the mitral valve, develop a dissecting aortic aneurysm, family history of marfan syndrome, lanky frame, thin limbs, armspan significantly greater than body height, spidery fingers, arachnodactyly, funnel chest, pectus excavatum, pigeon breast, pectus carinatum, scoliosis, visual difficulties, flat feet, learning disability/school problems, thin, narrow face, micrognathia, small lower jaw, coloboma of iris, hypotonia, a physical examination, joint laxity, hypermobile joints, myopia, nearsightedness, dislocation of lens, ectopia lentis, malformed cornea, flat, retinal detachment, signs of, dilated aortic root, aortic regurgitation, dissecting aortic aneurysm, mitral valve prolapse, aortic aneurysms, thoracic, abdominal, pneumothorax, collapsed lung, following tests performed, echocardiogram, eye examination, fibrillin-1 mutation testing, individuals, not a single, curative treatment, visual defects, corrected where possible, care, prevent the development of scoliosis, adolescence, cardiovascular abnormalities, the most worrisome, goal is primarily, prevent dilatation, the aortic root, dilatation, lead to dissection, rupture, the aorta, serious medical conditions, fatal, medication to slow the heart rate, beta blockers, prevent stress on the aorta, competitive athletics, contact sports, discouraged, an echocardiogram to assess the aortic root, performed every year, surgical replacement, the aortic root, valve is needed, marfan should have preventive antibiotics, dental procedures in order, prevent endocarditis, pregnancy in individuals, marfan needs to be monitored very closely, the increased stress on the heart, aorta, national marfan foundation 22 manhasset avenue port washington, ny 11050 1-800-8-marfan, 516-883-8712, marfan, lifespan is shortened somewhat, cardiovascular complications, survival, 60s, extended, good care, heart surgery, dissecting aortic aneurysm, aortic rupture, bacterial endocarditis, heart failure, family history of marfan syndrome, considering having children, advised to call provider, child has symptoms suggestive of this syndrome, spontaneous new mutations marfan, less than 1/3 of cases, cannot be prevented, prospective parents, a family history of marfan syndrome, genetic counseling is recommended.