Marfan's syndrome epidemiology and demographics: Difference between revisions
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__NOTOC__ | |||
{{Marfan's syndrome}} | |||
'''Editors-In-Chief:''' [[William James Gibson]], [[C. Michael Gibson, M.S., M.D.]] | |||
'''Associate Editor-In-Chief:''' {{CZ}} ; {{CA}} | |||
==Overview== | |||
==Epidemiology and Demographics== | |||
===Incidence=== | |||
Populations of certain athletes such as basketball and volleyball players have been shown to have an increased incidence of Marfan syndrome (~0.5%) <ref name="pmid10740158">{{cite journal |author=Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H |title=Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age |journal=[[American Heart Journal]] |volume=139 |issue=4 |pages=723–8 |year=2000 |month=April |pmid=10740158 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-8703(00)90055-3 |issn= |accessdate=2010-12-22}}</ref>, perhaps due to skeletal abnormalities associated with the syndrome. | |||
===Prevalence=== | |||
The prevalence of Marfan syndrome is 1 case per 3000 to 5000 individuals or .033 % (upper estimate) <ref name="pmid16325700">{{cite journal |author=Judge DP, Dietz HC |title=Marfan's syndrome |journal=[[Lancet]] |volume=366 |issue=9501 |pages=1965–76 |year=2005 |month=December |pmid=16325700 |pmc=1513064 |doi=10.1016/S0140-6736(05)67789-6 |url=http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(05)67789-6 |issn= |accessdate=2010-12-22}}</ref>. | |||
===Gender=== | ===Gender=== | ||
Marfan syndrome affects males and females equally,<ref name="marorg">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=6&menu_item_id=3|title=The role of heredity and family history|publisher=National Marfan Foundation|year=1999}}</ref> and the mutation shows no geographical bias. | Marfan syndrome affects males and females equally,<ref name="marorg">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=6&menu_item_id=3|title=The role of heredity and family history|publisher=National Marfan Foundation|year=1999}}</ref> and the mutation shows no geographical bias. | ||
===Race=== | |||
Neither location nor ethnicity appear to impact the statistics. | |||
===United States=== | |||
Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)<ref name="marorg"/> to 200 000<ref name="mednet">{{Cite web|url=http://www.medicinenet.com/script/main/art.asp?articlekey=63689|title=New, Deadly Relative of Marfan's Syndrome Discovered|publisher=MedicineNet.com|year=2006}}</ref> Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its [[autosomal dominant]] nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to ''[[de novo mutation|de novo]]'' [[genetic mutation]]s<ref name="robspath">{{cite book | title=Robbins Pathologic Basis of Disease| last=Cotran| coauthors=Kumar, Collins| publisher=W.B Saunders Company| location=Philadelphia| id=0-7216-7335-X}}</ref> — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of [[dominant negative mutation]] and [[haploinsufficiency]].<ref name="Judge_et_al_2004">{{cite journal | last = Judge | first = Daniel P. | coauthors = Nancy J. Biery, Douglas R. Keene, Jessica Geubtner, Loretha Myers, David L. Huso, Lynn Y. Sakai, Harry C. Dietz | title = Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. | journal = The Journal of Clinical Investigation | volume = 114 | issue = 2 | pages = 172-181 | doi = 10.1172/JCI200420641 | id = PMID 15254584 | url = http://www.jci.org/cgi/content/full/114/2/172}}</ref><ref name="Judge_et_al_2005">{{cite journal | last = Judge | first = Daniel P. | coauthors = Harry C. Dietz | title = Marfan's syndrome. | journal = Lancet | volume = 366 | issue = 9501 | pages = 1965-76 | year = 2005 | doi = 10.1016/S0140-6736(05)67789-6. | id = PMID 16325700 | url = http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16325700}}</ref> It is associated with variable expressivity. [[Incomplete penetrance]], has not been definitively documented. | |||
== | ==References== | ||
{{reflist|2}} | |||
{{WH}} | |||
{{WS}} | |||
Latest revision as of 16:06, 22 August 2012
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Marfan's syndrome epidemiology and demographics On the Web | |
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Risk calculators and risk factors for Marfan's syndrome epidemiology and demographics | |
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
Epidemiology and Demographics
Incidence
Populations of certain athletes such as basketball and volleyball players have been shown to have an increased incidence of Marfan syndrome (~0.5%) [1], perhaps due to skeletal abnormalities associated with the syndrome.
Prevalence
The prevalence of Marfan syndrome is 1 case per 3000 to 5000 individuals or .033 % (upper estimate) [2].
Gender
Marfan syndrome affects males and females equally,[3] and the mutation shows no geographical bias.
Race
Neither location nor ethnicity appear to impact the statistics.
United States
Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)[3] to 200 000[4] Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its autosomal dominant nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to de novo genetic mutations[5] — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.[6][7] It is associated with variable expressivity. Incomplete penetrance, has not been definitively documented.
References
- ↑ Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H (2000). "Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age". American Heart Journal. 139 (4): 723–8. PMID 10740158. Retrieved 2010-12-22. Unknown parameter
|month=ignored (help) - ↑ Judge DP, Dietz HC (2005). "Marfan's syndrome". Lancet. 366 (9501): 1965–76. doi:10.1016/S0140-6736(05)67789-6. PMC 1513064. PMID 16325700. Retrieved 2010-12-22. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 "The role of heredity and family history". National Marfan Foundation. 1999.
- ↑ "New, Deadly Relative of Marfan's Syndrome Discovered". MedicineNet.com. 2006.
- ↑ Cotran. Robbins Pathologic Basis of Disease. Philadelphia: W.B Saunders Company. 0-7216-7335-X. Unknown parameter
|coauthors=ignored (help) - ↑ Judge, Daniel P. "Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome". The Journal of Clinical Investigation. 114 (2): 172–181. doi:10.1172/JCI200420641. PMID 15254584. Unknown parameter
|coauthors=ignored (help) - ↑ Judge, Daniel P. (2005). "Marfan's syndrome". Lancet. 366 (9501): 1965–76. doi:10.1016/S0140-6736(05)67789-6. Check
|doi=value (help). PMID 16325700. Unknown parameter|coauthors=ignored (help)