Copy Number Variation Contributes to Sporadic and Familial Thoracic Aortic Aneurysms and Dissections
نویسندگان
چکیده
منابع مشابه
Copy 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.
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 کاملRecurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections
Thoracic Aortic Aneurysms and Dissections (TAAD) are a major cause of death in the United States. The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. We hypothesized that genomic copy number variants (CNVs) contribute causally to early onset TAAD (ETAAD). We conducted a genome-wide SNP array analysis of ETAAD patients of Eu...
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 کاملLOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
RATIONALE Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. OBJECTIVES To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. METHODS AND RESULTS Exome sequenc...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2011
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.111.960062