KUMJ | VOL. 2 | NO. 3 | ISSUE 7 | JULY-SEPTEMBER, 2004
Marfan’s syndrome with aortic valve endocarditis
Jaiswal S, Magar BS, Poudel M, Joshi LN, Neupane A, Karki DB
Abstract: Marfan’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 complications. 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)
Keyword : Marfan’s Syndrome, Autosomal dominant, Aortic Regurgitation, Infective Endocarditis