| CAUSES A father's age has been linked to dominant autonomic mutations that cause macroscopic malformatins as seen with Marfan's syndrome. The .3- .5% risk of abnormalities due to parental aging over 40 is comparable to the female trisomy 21 risk over age 35. (Contracept Fertil (Paris). 1992 Oct, 20(10):942-5.) Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome. Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. "Mutations are spread throughout the gene and, with the exception of neonatal Marfan syndrome, show no obvious clustering or phenotypic association. (Hayward C. Brock DJ. Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Scotland. RATE OF OCCURRENCE According to: Zeitschrift Fur Kardiologie Verlag: Steinfopff Verlag ISSN: 0300-5860 Heft: Band 87, #3, "The prevalence of the syndrome is 7-17/1,000,000. The mean life expectancy for untreated patients wtih Marfan syndrome is 32 years with aortic disection, aortic rupture or cardiac failure due to mitral and aortic valve regurgitation as the predominant cause of death in >90% of the cases. In severely affected cases with neonatal Marfan syndrome, patients are likely to survive only a few months. According to the literature database the prevalence of aortic dilation is 76%, 26% for aortic regurgitation, 62% for mitral valve prolapse, and 29% for mitral valve regurgitation in adult patients with classic Marfan syndrome." |