Marfan's syndrome epidemiology and demographics
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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
Gender
Marfan syndrome affects males and females equally,[1] and the mutation shows no geographical bias.
Race
Neither location nor ethnicity appear to impact the statistics.
Incidence
Populations of certain athletes such as basketball and volleyball players have been shown to have an increased incidence of Marfan syndrome (~0.5%) [2], 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) [3].
United States
Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)[1] 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
- ↑ 1.0 1.1 "The role of heredity and family history". National Marfan Foundation. 1999.
- ↑ 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) - ↑ "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)