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
Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)[1] to 200 000[2] 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[3] — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.[4][5] It is associated with variable expressivity. Incomplete penetrance, has not been definitively documented.
Gender
Marfan syndrome affects males and females equally,[1] and the mutation shows no geographical bias.
Prevalence
The prevalence of Marfan syndrome is 1 case per 3000 to 5000 individuals or .033 % (upper estimate) [6]. Neither location nor ethnicity appear to impact this statistic. Populations of certain athletes such as basketball and volleyball players have been shown to have an increased incidence of Marfan syndrome (~0.5%) [7], perhaps due to skeletal abnormalities associated with the syndrome. While patients now have nearly normal life expectancies, in previous decades, patients’ life expectancies were significantly shortened by the risks of aortic dissection, valvular failure and congestive heart failure. Together, these cardiovascular complications accounted for 90% of the mortality associated with Marfan syndrome such that in the 1970s, an affected individual would be expected to live only two-thirds as long as his unaffected counterparts [8].
References
- ↑ 1.0 1.1 "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) - ↑ 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) - ↑ 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) - ↑ Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick VA (1972). "Life expectancy and causes of death in the Marfan syndrome". The New England Journal of Medicine. 286 (15): 804–8. doi:10.1056/NEJM197204132861502. PMID 5011789. Retrieved 2010-12-22. Unknown parameter
|month=ignored (help)