Marfan Syndrome: Difference between revisions

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== Definition/Description  ==
== Definition/Description  ==


Marfan sy[[Image:Marfanguy1.jpg|frame|left|95x151px|Individual with Marfan syndrome presenting with the typical physical characteristics.]]ndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems.<ref name="[1]">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455</ref> 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].<ref name="[2]">http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;alt=sh</ref><ref name="[3]">National Library of Medicine- Genetics Home Reference: http://ghr.nlm.nih.gov/condition/marfan-syndrome</ref> &nbsp;Marfan’s most widely known physical characteristics include a tall, thin build with long fingers, arms, and legs.<ref name="[4]">Mayo Clinic: http://www.mayoclinic.com/health/marfan-syndrome/DS00540</ref>  
Marfan sy[[Image:Marfanguy1.jpg|frame|left|100x153px|Individual with Marfan syndrome presenting with the typical physical characteristics.]]ndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems.<ref name="[1]">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455</ref> 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].<ref name="[2]">http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;alt=sh</ref><ref name="[3]">National Library of Medicine- Genetics Home Reference: http://ghr.nlm.nih.gov/condition/marfan-syndrome</ref> &nbsp;Marfan’s most widely known physical characteristics include a tall, thin build with long fingers, arms, and legs.<ref name="[4]">Mayo Clinic: http://www.mayoclinic.com/health/marfan-syndrome/DS00540</ref>  


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Revision as of 22:53, 9 March 2011

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Laura White from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description[edit | edit source]

Marfan sy

File:Marfanguy1.jpg
Individual with Marfan syndrome presenting with the typical physical characteristics.

ndrome is a genetic disorder of the connective tissue affecting most notably the skeletal system, cardiovascular system, eyes, and skin, among other body systems.[1] 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.[2][3]  Marfan’s most widely known physical characteristics include a tall, thin build with long fingers, arms, and legs.[4]


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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Recent Related Research (from Pubmed)
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References[edit | edit source]

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  1. ↑ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455
  2. ↑ http://www.merckmanuals.com/professional/sec19/ch284/ch284d.html?qt=Marfan%20syndrome&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;alt=sh
  3. ↑ National Library of Medicine- Genetics Home Reference: http://ghr.nlm.nih.gov/condition/marfan-syndrome
  4. ↑ Mayo Clinic: http://www.mayoclinic.com/health/marfan-syndrome/DS00540
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