Marfan's syndrome with aortic valve endocarditis.
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).
Jaiswal
S
S
Department of Medicine, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal. sjkalu@yahoo.com
Magar
B-S
BS
Poudel
M
M
Joshi
L-N
LN
Neopane
A
A
Karki
D-B
DB
D000328:Adult; D001021:Aortic Valve; D004696:Endocarditis / Q000150:complications* / Q000175:diagnosis; D006349:Heart Valve Diseases / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008382:Marfan Syndrome