Thoracic aortic aneurysm other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohammad Salih, MD.
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease - Aortic Imaging Techniques (DO NOT EDIT)[1]
Familial Thoracic Aortic Aneurysms and Dissections (DO NOT EDIT)[1]
| Class IIa |
| "1. Sequencing of the ACTA2 gene is reasonable in patients with a family history of thoracic aortic aneurysms and/or dissections to determine if ACTA2 mutations are responsible for the inherited predisposition.[2][3][4][5][6][7] (Level of Evidence: B)" |
| Class IIb |
| "1. Sequencing of other genes known to cause familial thoracic aortic aneurysms and/or dissection (TGFBR1, TGFBR2, MYH11) may be considered in patients with a family history and clinical features associated with mutations in these genes.[2][3][4][5][6][7] (Level of Evidence: B)" |
| "2. If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or dissection are found to have thoracic aortic dilatation, aneurysm, or dissection, then referral to a geneticist may be considered. (Level of Evidence: C)" |
References
- ↑ 1.0 1.1 Hiratzka LF, Bakris GL, Beckman JA; et al. (2010). "2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine". Circulation. 121 (13): e266–369. doi:10.1161/CIR.0b013e3181d4739e. PMID 20233780. Unknown parameter
|month=ignored (help) - ↑ 2.0 2.1 Pannu H, Fadulu VT, Chang J; et al. (2005). "Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections". Circulation. 112 (4): 513–20. doi:10.1161/CIRCULATIONAHA.105.537340. PMID 16027248. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 Guo DC, Pannu H, Tran-Fadulu V; et al. (2007). "Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections". Nat. Genet. 39 (12): 1488–93. doi:10.1038/ng.2007.6. PMID 17994018. Unknown parameter
|month=ignored (help) - ↑ 4.0 4.1 Zhu L, Vranckx R, Khau Van Kien P; et al. (2006). "Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus". Nat. Genet. 38 (3): 343–9. doi:10.1038/ng1721. PMID 16444274. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 Loeys BL, Schwarze U, Holm T; et al. (2006). "Aneurysm syndromes caused by mutations in the TGF-beta receptor". N. Engl. J. Med. 355 (8): 788–98. doi:10.1056/NEJMoa055695. PMID 16928994. Unknown parameter
|month=ignored (help) - ↑ 6.0 6.1 Stheneur C, Collod-Béroud G, Faivre L; et al. (2008). "Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders". Hum. Mutat. 29 (11): E284–95. doi:10.1002/humu.20871. PMID 18781618. Unknown parameter
|month=ignored (help) - ↑ 7.0 7.1 Guo DC, Papke CL, Tran-Fadulu V; et al. (2009). "Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease". Am. J. Hum. Genet. 84 (5): 617–27. doi:10.1016/j.ajhg.2009.04.007. PMC 2680995. PMID 19409525. Unknown parameter
|month=ignored (help)