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Marfan's Syndrome

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  References: Mayo Clinic, WebMed, Medscape Marfan’s Syndorme: Marfan syndrome is an inherited disorder that affectsconnective tissue. Marfan syndrome most commonly affects the heart, eyes, bloodvessels and skeleton. Treatment usually includes medications to keep your blood pressure lo to reduce the strain on eakened blood vessels. !as an autosomaldominant mode of transmission. Marfan syndrome is caused by a defect in the ene that enables your body to produce a protein that helps ive connective tissueits elasticity and stren th. The defect itself has been isolated to the  FBN1   ene onchromosome #$, hich codes for the connective tissue protein fibrillin.Marfan syndrome features may include: Tall and slender build.%isproportionately lon arms, le s, fin ers and toes& breastbone that protrudes outard or dips inard& hi h, arched palate and croded teeth!eart murmurs'(treme nearsi htedness&n abnormally curved spine)lat feet &rachnodactyly *ie, abnormally lon and thin di its+, dolichostenomelia *ie, lon limbs relative to trunk len th+, pectus deformities *ie,  pectus e(cavatum and  pectus carinatum+, and thoracolumbar scoliosis. &ortic dilatation, aortic re ur itation,aneurysms, Mitral valve prolapsethat reuires valve replacement can occur as ell. -cular findin s include myopia,cataracts, retinal detachment, and superior dislocation of the lens. ernard Marfan as born in Castelnaudary, &ude, )rance on /une 01, #2$2. 3n #240, he as appointed assistant professor of pediatrics in the 5aris faculty. Marfan described the disease that still bears his name at a meetin of the Medical Society of 5aris in #246. !e presented the case of a $7year7old irl named 8abrielle, ho had disproportionately lon limbs. Marfan ained an international reputation and as idely reco ni9ed as a pioneer of pediatric medicine in )rance. This as very much the case in ritain, too, here he received an honorary felloship of the Royal Society of Medicine in #41.  erlin criteria *#426+ for dia nosis of M)S. The 8hent criteria *#446+ )or the skeletal system involvement to be used as criteria for the dia nosis, at least 0 ma;or criteria or # ma;or criterion plus 0 minor criteria must be present. Ma;or skeletal system criteria are as follos:5ectus carinatum5ectus e(cavatum reuirin sur ery& reduced upper7to7loer se ment ratio *ie, the distance from the head to the pubic symphysisdivided by the distance of the pubic symphysis to the sole+ of less than <.2$&n increased arm span=to=hei ht ratio that is reater than #.<$& positive rist si n *ie, the thumb and inde( fin ers overlap hen encirclin the contralateral rist.+& positive thumb *Steinber + si n *ie, the thumb e(tends beyond the ulnar border of the hand hen the di it is held fle(ed in the palm.+& thoracolumbar scoliosis of more than 0<> or  spondylolisthesis5ro ressive collapse of the hindfoot, leadin to  pes planoval us deformity& protrusio acetabuli of any de ree *seen on anteroposterior *&5+ radio raphs of the pelvis+Minor skeletal system criteria are as follos:5ectus e(cavatum of moderate severity/oint hypermobility!i h arched palate, ith dental crodin )acial appearance *dolichocephaly, malar hypoplasia, enophthalmos, retro nathia, don7slantin palpebral fissures+Standard radio raphs!and radio raphs may be taken to demonstrate the typical findin of arachnodactyly. Specifically, the metacarpal inde( can be calculated by measurin the ratio of the avera e len th and idth of the second throu h fourth metacarpals. & ratio of more than 2.2 in males and 4.4 in females is indicative of arachnodactyly. Camptodactyly can be associated ith M)S? this abnormal fle(ion at the interphalan eal ;oint should be noted clinically and on standard radio raphs.-cular system)or ocular system involvement to be used as dia nostic criteria, the ma;or criterion or at least 0 minor criteria must be present.The ocular system ma;or criterion is ectopia lentis *lens dislocation+. Minor ocular system criteria are as follos:&n abnormally flat cornea&n increased a(ial len th of the lobe, as measured by ultrasound  & hypoplastic iris or hypoplastic ciliary muscle, causin myopia. Cardiovascular system)or cardiovascular system involvement to be considered dia nostic criteria, only one of the ma;or or minor criteria must be present.Ma;or cardiovascular system criteria are as follos:%ilatation of the ascendin aorta, ith or ithout re ur itation, and involvin at least the sinuses of @alsalva%issection of the ascendin aortaMinor cardiovascular system criteria are as follos:Mitral valve prolapse, ith or ithout re ur itation%ilatation of main pulmonary artery in the absence of  valvular  or peripheral pulmonic stenosis or any other obvious cause in patients youn er than < yearsCalcification of the mitral valve annulus in patients youn er than < years%ilatation or dissection of the descendin thoracic or abdominal aorta in patients youn er than$< years5ulmonary system)or pulmonary system involvement to be considered dia nostic criteria, one of the minor criteria must be present. Ao ma;or pulmonary system criteria e(ist.Minor pulmonary system criteria are as follos:Spontaneous pneumothora(&pical blebsSkin and inte ument)or skin and inte ument involvement to be considered dia nostic criteria, the ma;or criteria or one of the minor criteria must be present.The ma;or skin and inte ument criterion is lumbosacral dural ectasia, as depicted by computed tomo raphy *CT+ scannin or ma netic resonance ima in *MR3+.The minor skin and inte ument criteria are as follos:Striae atrophicae that are not associated ith  pre nancy or repetitive stress Recurrent or incisional hernia  ᄃ .Requirements for a diagnosis of MFS 3nde( case = Ma;or criteria in at least 0 different or an systems and involvement in a third or an system  )amily member = 5resence of a ma;or criterion in the family history, one ma;or criterion in anor an system, and involvement of a second or an system.While there is no cure for Marfan syndrome, treatment focuses on preventin the various complications of the disease. 3n the past, people ho had Marfan syndrome rarely lived past <. With re ular monitorin and modern treatment, most people ith Marfan syndrome can no e(pect to live a more normal life span.The oal of sur ery for Marfan syndrome is to prevent aortic dissection or rupture and to treat  problems affectin the heartBs valves, hich control the flo of blood in and out of the heart and beteen the heartBs chambers. Future and Controversies Many ne areas of investi ation into the etiolo y and effects of M)S e(ist. Some are on oin , hereas others ill likely come to the forefront as the disease is more readily understood. With re ard to the skeletal system, investi ators are seekin to discover ne modalities by hich to delay or reduce the pro ression of scoliosis and assess the effect of hypermobility on ;oint de eneration and deformity.Cardiovascular research has focused on tryin to identify patients at risk for compromise as early as possible and to determine if medications other than beta7blockers are useful in terms of their cardioprotective effects.There are some preliminary data based on murine studies that indicate an an iotensin 33 receptor anta onist a ent *e , losartan+ or transformin roth factor7beta neutrali9in antibodies may have the potential to reverse some of the primary clinical manifestations in M)S, such as aortic root dilatation, mitral valve prolapse, lun disease, and skeletal muscle dysfunction.DEResearchers are also focusin on the effects of laser sur ery on the cornea and lens, as ell as the correction of cataracts and the preservation of si ht.8enetic testin is particularly important. 3t is knon that the  FBN1  locus is associated ith M)S? hoever, it is possible that other enes may cause a marfanoid habitus ith phenotypic manifestations similar to those seen in M)S.06ECompiled by %r Mohib Airob, Resident, %ept. -f -ncolo y , SMMF, &A8G&%'S!

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Jul 23, 2017


Jul 23, 2017
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