Abstract
Marfan syndrome is a heritable disorder of connective tissue affecting approximately one in every 5 – 10,000 individuals. If all related disorders of fibrillin are included, the incidence of fibrillin abnormalities may be as high as one in every 3 – 5,000 (1). The cardinal clinical manifestations of the syndrome involve the skeletal, cardiovascular, and ocular systems (2,3). A characteristic body habitus, aneurysmal dilatation of the aorta (Figure 1), and ectopia lentis (subluxation or dislocation of the ocular lens) are the hallmarks of this condition. In addition, the skin, fascia, central nervous system, and lung may show characteristic involvement. Marfan syndrome is inherited in an autosomal dominant fashion, although an estimated 15 to 30 percent of cases are sporadic, representing new mutations in otherwise unaffected families. Males and females are equally affected, and there is no preference for race or ethnic group.
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Lacro, R.V. (2000). Marfan Syndrome and Related Disorders of Fibrillin. In: Berul, C.I., Towbin, J.A. (eds) Molecular Genetics of Cardiac Electrophysiology. Developments in Cardiovascular Medicine, vol 231. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4517-0_21
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