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

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