title: Marfan's syndrome with aortic valve endocarditis.
abstract: Marfans syndrome is an Autosomal dominant disorder of the connective tissues resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population1 and occurs in all ethnic groups. It may be familial or due to new mutation (30%), in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000-5000 has Marfans syndrome may have cardiovascular abnormalities and may be complicated by infective endocartditis. About 90% of Marfan patients will develop cardiac complications2. The patient under discussion has musculoskeletal (Tall stature, reduced upper-lower segment ratio, arm-span to height ratio > 1.05, high arched palate) and Cardiovascular features (Severe aortic regurgitation complicated with infective endocarditis).
authors.affiliation: Department of Medicine, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal. sjkalu@yahoo.com
authors.forename: S
authors.initials: S
authors.lastname: Jaiswal
authors.forename: B-S
authors.initials: BS
authors.lastname: Magar
authors.forename: M
authors.initials: M
authors.lastname: Poudel
authors.forename: L-N
authors.initials: LN
authors.lastname: Joshi
authors.forename: A
authors.initials: A
authors.lastname: Neopane
authors.forename: D-B
authors.initials: DB
authors.lastname: Karki
mesh_terms: D000328:Adult; D001021:Aortic Valve; D004696:Endocarditis / Q000150:complications* / Q000175:diagnosis; D006349:Heart Valve Diseases / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008382:Marfan Syndrome