The Familial Non-Syndromic Thoracic Aortic Aneurysms and Dissections maps to Marfan Disease Gene (Fibrillin 1) locus
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منابع مشابه
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.
BACKGROUND Aortic aneurysms cause significant mortality, and >20% relate to hereditary disorders. Familial aortic aneurysm (FAA) has been described in such conditions as the Marfan and Ehlers-Danlos type IV syndromes, due to defects in the fibrillin-1 and type III procollagen genes, respectively. Other gene defects that cause isolated aneurysms, however, have not thus far been described. METH...
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Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that...
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Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is di...
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Syndromic thoracic aortic aneurysms and dissections (TAADs) develop in patients with connective tissue disorders because of genetic mutations that affect structural components of the extracellular matrix and the cell contractile machinery. Early pathogenic hypotheses attributed the aortopathy to structural failure of the aortic tissue. Over 14 years ago, Neptune et al, Habashi et al, and Lindsa...
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The importance of maintaining contractile function in aortic smooth muscle cells (SMCs) is evident by the fact that heterozygous mutations in the major structural proteins or kinases controlling contraction lead to the formation of aneurysms of the ascending thoracic aorta that predispose to life-threatening aortic dissections. Force generation by SMC requires ATP-dependent cyclic interactions ...
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