Browsing by Author "A, Neupane"
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Publication A Typical Case of Myasthenia Gravis(Kathmandu University, 2003) M, Poudel; GM, Angel; A, Neupane; DB, KarkiNA.Publication Marfan’s syndrome with aortic valve endocarditis(Kathmandu University, 2004) S, Jaiswal; BS, Magar; M, Poudel; LN, Joshi; A, Neupane; DB, KarkiMarfan’s 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 Marfan’s 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) Key words: Marfan’s Syndrome, Autosomal dominant, Aortic Regurgitation, Infective Endocarditis