Marfan's syndrome diagnostic criteria: Difference between revisions
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'''Associate Editor-In-Chief:''' {{CZ}} ; {{CA}} | '''Associate Editor-In-Chief:''' {{CZ}} ; {{CA}} | ||
==Overview== | ==Overview== | ||
The major criteria for diagnosis of Marfan syndrome are ectopia lentis, aortic root dilation/dissection, dural ectasia, or a combination of more than 4 out of 8 major skeletal features. In an individual with no known family history of Marfan syndrome and in the absence of any known FBN1 mutations, major involvement of two organs systems (e.g. skeletal, cardiovascular, ocular) and minor involvement of a third system is required for diagnosis. However, if the patient has a known FBN1 mutation or affected relative, major involvement of only one system and minor involvement of another is sufficient for diagnosis. | |||
==Diagnostic Criteria== | ==Diagnostic Criteria== | ||
==References== | ==References== | ||
Revision as of 14:22, 22 August 2012
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Marfan's syndrome Microchapters | |
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Diagnosis | |
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Treatment | |
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Marfan's syndrome diagnostic criteria On the Web | |
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American Roentgen Ray Society Images of Marfan's syndrome diagnostic criteria | |
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Risk calculators and risk factors for Marfan's syndrome diagnostic criteria | |
Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]
Overview
The major criteria for diagnosis of Marfan syndrome are ectopia lentis, aortic root dilation/dissection, dural ectasia, or a combination of more than 4 out of 8 major skeletal features. In an individual with no known family history of Marfan syndrome and in the absence of any known FBN1 mutations, major involvement of two organs systems (e.g. skeletal, cardiovascular, ocular) and minor involvement of a third system is required for diagnosis. However, if the patient has a known FBN1 mutation or affected relative, major involvement of only one system and minor involvement of another is sufficient for diagnosis.