Thoracic aortic aneurysm screening
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Thoracic aortic aneurysm Microchapters |
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Differentiating Thoracic Aortic Aneurysm from other Diseases |
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Risk calculators and risk factors for Thoracic aortic aneurysm screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3] Mohammed Salih, MD. [4]
Overview
Screening for TAA is not recommended in the general population. However, certain population substrates, such as those with history of marfan's syndrome, turner's syndrome, ehlers-danlos type IV syndrome, familial thoracic aortic disease syndromes, bicuspid aortic valve, takayasu arteritis, giant cell arteritis, loeys-dietz syndrome or a confirmed genetic mutation known to predispose to aortic aneurysms and aortic dissections (TGFBR1, TGFBR2, FBN1, ACTA2, or MYH11) should have imaging study to screen for TAAs. First-degree relatives of people with thoracic aortic aneurysm or dissection should have aortic imaging to identify asymptomatic disease. Patients with high risk syndromes such as marfan's syndrome and loeys-dietz syndrome should undergo complete aortic imaging at initial diagnosis and 6 months thereafter to establish if enlargement is occurring.
Screening
Marfan's Syndrome
People diagnosed with marfan syndrome should immediately have an echocardiogram to measure the aorta, and followed up 6 months later to check for aortic enlargement.[1] Annual imaging is recommended for patients with marfan syndrome if stability of the aortic diameter is documented. If the maximal aortic diameter is 4.5 cm or greater, or if the aortic diameter shows significant growth from baseline, more frequent imaging should be considered (Level of Evidence: C).
Loeys-Dietz Syndrome
Patients with loeys-dietz syndrome or a confirmed genetic mutation known to predispose to aortic aneurysms and aortic dissections (TGFBR1, TGFBR2, FBN1, ACTA2, or MYH11) should undergo complete aortic imaging at initial diagnosis and 6 months thereafter to establish if enlargement is occurring.
Turner's Syndrome
Patients with turner syndrome should undergo imaging of the heart and aorta for evidence of bicuspid aortic valve, coarctation of the aorta, or dilatation of the ascending thoracic aorta. If initial imaging is normal and there are no risk factors for aortic dissection, repeat imaging should be performed every 5 to 10 years or if otherwise clinically indicated. If abnormalities exist, annual imaging or follow-up imaging should be done.
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (DO NOT EDIT)[2]
Genetic Syndromes (DO NOT EDIT)[2]
| Class I |
| "1. An echocardiogram is recommended at the time of diagnosis of Marfan syndrome to determine the aortic root and ascending aortic diameters and 6 months thereafter to determine the rate of enlargement of the aorta. (Level of Evidence: C)" |
| "2. Annual imaging is recommended for patients with Marfan syndrome if stability of the aortic diameter is documented. If the maximal aortic diameter is 4.5 cm or greater, or if the aortic diameter shows significant growth from baseline, more frequent imaging should be considered. (Level of Evidence: C)" |
| "3. Patients with Loeys-Dietz syndrome or a confirmed genetic mutation known to predispose to aortic aneurysms and aortic dissections (TGFBR1, TGFBR2, FBN1, ACTA2, or MYH11) should undergo complete aortic imaging at initial diagnosis and 6 months thereafter to establish if enlargement is occurring.[3][4][5][6] (Level of Evidence: C)" |
| "4. Patients with Loeys-Dietz syndrome should have yearly magnetic resonance imaging from the cerebrovascular circulation to the pelvis.[7][8][9] (Level of Evidence:B)" |
| "5. Patients with Turner syndrome should undergo imaging of the heart and aorta for evidence of bicuspid aortic valve, coarctation of the aorta, or dilatation of the ascending thoracic aorta.[10] If initial imaging is normal and there are no risk factors for aortic dissection, repeat imaging should be performed every 5 to 10 years or if otherwise clinically indicated. If abnormalities exist, annual imaging or follow-up imaging should be done. (Level of Evidence:C)" |
Genetic Syndromes of Familial Thoracic Aortic Aneurysms and Dissections (DO NOT EDIT)[2]
| 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. (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. (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
- ↑ 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". J. Am. Coll. Cardiol. 55 (14): e27–e129. doi:10.1016/j.jacc.2010.02.015. PMID 20359588. Unknown parameter
|month=ignored (help) - ↑ 2.0 2.1 2.2 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) - ↑ Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R; et al. (2008). "Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders". Circulation. 118 (7): 785–91. doi:10.1161/CIRCULATIONAHA.108.783753. PMC 2909440. PMID 18695204.
- ↑ Svensson LG, Crawford ES, Coselli JS, Safi HJ, Hess KR (1989). "Impact of cardiovascular operation on survival in the Marfan patient". Circulation. 80 (3 Pt 1): I233–42. PMID 2766531.
- ↑ Svensson LG, Blackstone EH, Feng J, de Oliveira D, Gillinov AM, Thamilarasan M; et al. (2007). "Are Marfan syndrome and marfanoid patients distinguishable on long-term follow-up?". Ann Thorac Surg. 83 (3): 1067–74. doi:10.1016/j.athoracsur.2006.10.062. PMID 17307461.
- ↑ Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F; 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.
- ↑ LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM (2007). "Severe aortic and arterial aneurysms associated with a TGFBR2 mutation". Nat Clin Pract Cardiovasc Med. 4 (3): 167–71. doi:10.1038/ncpcardio0797. PMC 2561071. PMID 17330129.
- ↑ Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H; 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.
- ↑ Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND; et al. (2007). "Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease". Ann Thorac Surg. 83 (2): S757–63, discussion S785-90. doi:10.1016/j.athoracsur.2006.10.091. PMID 17257922.
- ↑ Bondy CA, Turner Syndrome Study Group (2007). "Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group". J Clin Endocrinol Metab. 92 (1): 10–25. doi:10.1210/jc.2006-1374. PMID 17047017.