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  • Title: Marfan's syndrome with aortic valve endocarditis.
    Author: Jaiswal S, Magar BS, Poudel M, Joshi LN, Neopane A, Karki DB.
    Journal: Kathmandu Univ Med J (KUMJ); 2004; 2(3):230-3. PubMed ID: 16400220.
    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).
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