(精选)NHS临床指南 Marfan’s syndrome and related aortopathies教学课件.pptVIP

Marfan’s syndrome and related aortopathies Shehla Mohammed Marfan’s syndrome Common multisystem connective tissue disorder 1 in 5000 Altered body proportions ? risk of aortic dissection and rupture ? risk of eye problems (lens dislocation and retinal detachment) Marfan’s syndrome and related aortopathies Common multisystem connective tissue disorder 1 in 5000 Altered body proportions ? risk of aortic dissection and rupture ? risk of eye problems (ectopia lentis and retinal detachment) Mutations in Fibrillin 1 gene (FBN1) Variable clinical expression Several conditions with overlapping clinical manifestations MULTIPLE GENES INVOVED Current provision of testing Number of labs currently provide testing * FBN1 * TGFBR1 * TGFBR2 * TAAD Testing criteria available for all except FBN1 UKGTN –RCP WORKSHOP Clinical Geneticists Cardiologists with specialist interest Clinical Scientists Genetics Counsellors Patient support group PHG foundation External expert : Prof Bart Loeys Aims of workshop – RCP Sept 2012 Consensus TC for MFS revisions to draft testing criteria? incorporate revised Ghent criteria (2010) Draw up combined clinical and testing pathways to: facilitate and optimise targeted testing appropriate, timely management accommodate testing for panel approach? Publish agreed pathways and TC phg foundation report Aortic aneurysms a major health issue Incidence of aortopathies 10.4/ 100,000 Early identification critical for prophylactic surgery to improve health outcomes Communication, role of GP, early referral Bart Loeys: “ Does identification of FBN1 mutation equate to a diagnosis of Marfans? “ RCP workshop : key mesages Criteria : Suspected diagnosis of Marfan syndrome  REVISED GHENT CRITERIA (Loeys 2010) Tick if this patient meets criteria Dilated Aortic root AND Ectopia Len