Marfan Syndrome: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Marfan syndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems. Due to the widespread role of connective tissue throughout the body, individuals with Marfan syndrome may be at risk for many potentially severe or lethal co-moribidities as a result of the disease process. Marfan syndrome is inherited through an autosomal dominant mutation of the gene encoding glycoprotein fibrillin-1 (''FBN1''), which plays a role in the anchoring of cells to the extra-cellular matrix and is the main component of [http://ghr.nlm.nih.gov/glossary=microfibrils microfibrils].<sup><ref name="1">http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&alt=sh</ref></sup> | Marfan syndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems. Due to the widespread role of connective tissue throughout the body, individuals with Marfan syndrome may be at risk for many potentially severe or lethal co-moribidities as a result of the disease process. Marfan syndrome is inherited through an autosomal dominant mutation of the gene encoding glycoprotein fibrillin-1 (''FBN1''), which plays a role in the anchoring of cells to the extra-cellular matrix and is the main component of [http://ghr.nlm.nih.gov/glossary=microfibrils microfibrils].<sup><ref name="1">http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&amp;alt=sh</ref></sup> | ||
== Prevalence == | == Prevalence == | ||
Revision as of 04:06, 23 February 2011
Original Editors - Laura White from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
Marfan syndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems. Due to the widespread role of connective tissue throughout the body, individuals with Marfan syndrome may be at risk for many potentially severe or lethal co-moribidities as a result of the disease process. Marfan syndrome is inherited through an autosomal dominant mutation of the gene encoding glycoprotein fibrillin-1 (FBN1), which plays a role in the anchoring of cells to the extra-cellular matrix and is the main component of microfibrils.Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
Prevalence[edit | edit source]
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Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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References[edit | edit source]
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1. The Merck Manuals Online Medical Library: http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&alt=sh
