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 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)