NHS临床指南 Marfan’s syndrome and related aortopathiesPPT.pptVIP

Marfan’s syndrome and related aortopathies;Marfan’s syndrome;Marfan’s syndrome and related aortopathies;Current provision of testing;UKGTN –RCP WORKSHOP; 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? “ ;Criteria : Suspected diagnosis of Marfan syndrome  REVISED GHENT CRITERIA (Loeys 2010);Feature; Score 7 indicates systemic involvement Aortic root enlargement: Z- score 2 : 20yrs Z- score 3 : 20 yrs Aortic size standardised to age and body size for accurate interpretation Z score 2.0 above 95th percentile 3.0 above 99th percentile ; Consultant Cardiologists (Adult, Paediatric) Clinical Geneticist;;Recommendations;Acknowledgements