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Old 09-17-2012
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Marfans has mvp does it also hv Aortic regurg?
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Old 09-17-2012
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Originally Posted by pathophysio1 View Post
Marfans has mvp does it also hv Aortic regurg?
Yes, as marfan syndrom pt. has defective fibrillin, which affects many connective tissue in the body including elastin( part of aortic wall). This weakens aortic wall, progressive dilatation of the aortic root because of high left venticular ejection pressure and subsequently the pt. may end up with aortic regurgitation.
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Old 09-18-2012
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in Marfans there is missense mutation in fibrillin gene .Dilation of ascending aorta may progress to Aortic dissection and aortic regurgitation.hypermobility, Eunuchoid proportions, arachnodactyly, B/l lens dislocation( upward)/subluxation are its features. it should be differentiated from homocystinuria.

Marfan's - autosomal dominant
homocystinuria - autosomal recessive
lens dislocation:
Marfan's - upward lens dislocation
homocystinuria - downward lens dislocation
aortic incompetence:
Marfan's - aortic incompetence may occur
homocystinuria - heart rarely affected
intellectual development:
Marfan's - normal
homocystinuria - mental retardation
other principle features:
Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy
homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine
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