Familial Thoracic Aortic Aneurysms and Dissections
نویسندگان
چکیده
منابع مشابه
Familial thoracic aortic aneurysms and dissections.
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...
متن کاملAdventitial Fibroblast Abormality in Thoracic Aortic Aneurysms and Aortic Dissections
BACKGROUND Development of thoracic aortic aneurysms and aortic dissections (TAAD) is attributed to unbearable wall tension superimposed on defective aortic wall integrity and impaired aortic repair mechanisms. Central to this repair mechanisms are well-balanced and adequately functional cellular components of the aortic wall, including endothelial cells, smooth muscle cells (SMCs), inflammatory...
متن کاملFamilial thoracic aortic aneurysms and dissections - studies on genotype and phenotype
iv Svensk sammanfattning vi
متن کاملCopy number variation contributes to sporadic and familial thoracic aortic aneurysms and dissections.
Study Hypothesis The genetic origins of thoracic aortic aneurysms and dissections (TAAD) are relatively unknown. Twenty percent of cases have similarly affected family members, but genes previously identified for familial TAAD have exhibited reduced penetrance and variable severity. The genes previously implicated in familial TAAD (ACTA2, MYH11, TGFBR1, TGFBR2) have all been found to be involve...
متن کاملFamilial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.
BACKGROUND Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS Fifteen...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2011
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.110.958066