Publication: Marfan’s syndrome with aortic valve endocarditis
Date
2004
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
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 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