No robust genotype-phenotype correlations have emerged, despite >1000 mutations being analyzed. Heterozygosity for a mutation in FBN1 can also produce a variety of overlapping phenotypes with Marfan syndrome. 3 Up to one third of cases have neither parent affected and represent de novo mutations in either the gamete from their mother or father. Mutations in the gene ( FBN1) that encodes the extracellular matrix protein, fibrillin-1, cause classic Marfan syndrome. This figure does not appear to vary with ethnicity or geography. However, Marfan syndrome is clearly one of the more common, potentially lethal Mendelian conditions with an estimated prevalence of 1 case per 3000 to 5000 individuals. Several conditions that were once classified as Marfan (eg, homocystinuria, Loeys-Dietz syndrome) are recognized now as clearly distinct. 1Īn accurate incidence has been impossible to define because of the age dependency of many of the features, the common occurrence of some features in the general population (such as scoliosis lean, tall habitus mitral valve prolapse myopia), and shifting diagnostic criteria. Manifestations occur in many other tissues and organs and are increasingly being recognized as patients survive to older ages. For the half century subsequent to Marfan’s report, features in other systems were described in patients with thin, elongated limbs: mitral valve disease in 1912 dislocation of the ocular lens in 1914 ruptured aortic aneurysm in 1918 aortic root dilatation and dissection in 1943 and autosomal dominant inheritance in 1949. Because of the latter feature, this patient may really have had congenital contractural arachnodactyly, a connective tissue disorder not described until 1968.

Antoine Bernard-Jean Marfan first described the syndrome in 1896 in a young patient with peculiarly long and thin digits (subsequently termed arachnodactyly), elongated limbs (which he termed dolichostenomelia), and congenital contractures of multiple joints. Marfan syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal abnormalities, dislocation of the ocular lens, pneumothorax, decreased skeletal muscle mass, mitral valve prolapse, and dilatation of the aortic root. Customer Service and Ordering Information.Stroke: Vascular and Interventional Neurology.Journal of the American Heart Association (JAHA).Circ: Cardiovascular Quality & Outcomes.Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB).

Matrix absence management