Familial thoracic aortic aneurysms and dissections--incidents, modes of inheritance, and phenotypic patterns
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 کاملAutosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.3%) famili...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Vascular Surgery
سال: 2007
ISSN: 0741-5214
DOI: 10.1016/j.jvs.2007.02.021