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