Grown-up Congenital Heart Disease (GUCH): Difference between revisions
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Marfan syndrome (MFS) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals and is one of the most common inherited disorders of connective tissue. While most MFS patients have an affected parent, around 15 – 30 percent have a de novo mutation. MFS is associated with a broad range of clinical symptoms and associated disorders, ranging from classic ocular, cardiovascular, and musculoskeletal abnormalities to manifestations including involvement of the lung, skin, and central nervous system. | Marfan syndrome (MFS) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals and is one of the most common inherited disorders of connective tissue. While most MFS patients have an affected parent, around 15 – 30 percent have a de novo mutation. MFS is associated with a broad range of clinical symptoms and associated disorders, ranging from classic ocular, cardiovascular, and musculoskeletal abnormalities to manifestations including involvement of the lung, skin, and central nervous system. | ||
Progressive dilatation of the ascending aorta is one of the key features, which causes a high risk of sudden death due to aortic dissection or rupture in young Marfan patients. ( | Progressive dilatation of the ascending aorta is one of the key features, which causes a high risk of sudden death due to aortic dissection or rupture in young Marfan patients. (Figure 18 & 19) | ||
The underlying genetic defect is localised in the fibrillin gene on chromosome 15 (FBN1) in which recently around 600 different mutations are found. However in about 10% of MFS patients there is no mutation identified in the FBN1 gene, furthermore FBN1 mutations also occur across a wide range of milder phenotypes that overlap the classic Marfan phenotype. Therefore it is not possible to diagnose MFS solely with genetic information. | The underlying genetic defect is localised in the fibrillin gene on chromosome 15 (FBN1) in which recently around 600 different mutations are found. However in about 10% of MFS patients there is no mutation identified in the FBN1 gene, furthermore FBN1 mutations also occur across a wide range of milder phenotypes that overlap the classic Marfan phenotype. Therefore it is not possible to diagnose MFS solely with genetic information. | ||