Marfan syndrome – Quick revision chart

Marfan syndrome Rare inherited connective tissue disorder - autosomal dominant inheritance Phenotypic expression varies considerably both between and within families Mutation in the FBN1 gene encoding fibrillin -1 ( a major component of microfibrils in the ECF matrix ) on chromosme 15 Pathology is not fully understood but it is a fibrillinopathy Estimated inheritance 1 in 5000 individuals with no predilection for either sex ( occurs worldwide ) Multisystem disorder with skeletal , ocular , skin and CV components ( changes in other systems is also possible )

Cardiovascular -can affect the heart or the vasculature aortic root dilatation( aorta is affected mainly & the aortic root develops dilatation , aneurysms and dissection ) mitral valve prolapse aortic aneuyrsm and dissection high mortality before modern open heart surgery became available and most patients died from acute aortic dissection or rupture

Ocular -Myopia 60 % individuals have ectopia lentis ( dislocation of ocular lens ) higher risk of retinal detachment , glaucoma

Others -dysmorphic facial features increased risk spontaneous pneumothorax apical blebs skin striae or striae atrophicae

Skeletal -joint laxity dolichostenomelia ( individuals are taller than the general population and have disproportionately long extremities in comparison to the length of the...