Authors' recommendations: Marfan syndrome is an autosomal dominant connective tissue disorder, primarily involving the skeletal, cardiovascular, and ocular systems. It is estimated to affect 1 in 5000 individuals. Marfan syndrome is typically caused by variants in the fibrillin-1 gene (FBN1), located on chromosome 15 at band q21.1. However, variants in the transforming growth factor beta receptor genes TGFBR1 and TGFBR2 have also been reported in individuals with Marfan syndrome. Approximately 75% of affected individuals have a family history of Marfan syndrome, while the remainder has the condition as the result of a de novo gene variant. Marfan syndrome is a highly variable disorder with features that typically appear in an age-dependent manner. Skeletal manifestations of Marfan syndrome include tall stature with disproportionately long arms, legs, fingers, and toes; scoliosis; pectus excavatum or pectus carinatum (inward or outward displacement of the breast bone, respectively); pes planus (flat feet); decreased elbow extension; and protrusio acetabuli (inward displacement of the hip socket). The primary cardiovascular findings associated with Marfan syndrome are dilatation or dissection of the ascending aorta, although mitral valve prolapse, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery are common. Eye involvement typically includes myopia (nearsightedness) and ectopia lentis (dislocation of the lens), but affected individuals are also at an increased risk for retinal detachment, glaucoma, and earlyonset cataracts. Other features common among Marfan syndrome patients are the presence of stretch marks, hernias, dural ectasia (expansion of the membrane that covers the spinal cord), and spontaneous pneumothorax (a collection of air in the lung cavity). The diagnosis of Marfan syndrome is typically based on an evaluation of clinical findings and family history, using the Ghent diagnostic criteria. According to these criteria, an individual with no family history of Marfan syndrome must have major involvement of two systems and minor involvement of a third in order to be diagnosed with the condition. Major involvement includes dilatation or dissection of the aorta, ectopia lentis, at least four of eight specified skeletal features, and dural ectasia. Another major criterion is the identification of a pathogenic variant in the FBN1 gene. In those with an affected firstdegree relative, a clinical diagnosis requires major involvement of one system and minor involvement of a second. For a diagnosis of neonatal Marfan syndrome, a severe, early-onset form of the condition, an infant must demonstrate significant cardiovascular involvement before 4 weeks of age.

Project Status: Completed

Year Published: 2010

URL for published report: http://www.hayesinc.com/hayes/crd/?crd=11051

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

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Contact Email: saleinfo@hayesinc.com

Copyright: 2010 Winifred S. Hayes, Inc