Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?
References
- Clouse WD, Hallett JW
Jr , Schaff HV, Gayari MM, Ilstrup DM, Melton LJ3rd . Improved prognosis of thoracic aortic aneurysms: a population-based study. JAMA. 1998 Dec 9;280(22):1926-9. doi: 10.1001/jama.280.22.1926 - Isselbacher EM, Preventza O, Hamilton Black J
3rd , et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Dec 13;146(24):e334-e482. doi: 10.1161/cir.0000000000001106 - Renard M, Francis C, Ghosh R, et al. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089
- Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 2011 May 19;473(7347):308-16. doi: 10.1038/nature10145
- Coady MA, Davies RR, Roberts M, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999 Apr;134(4):361-7. doi: 10.1001/archsurg.134.4.361
- Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997 Mar;25(3):506-11. doi: 10.1016/s0741-5214(97)70261-1
- Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7
- Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005 Dec 3;366(9501):1965-76. doi: 10.1016/s0140-6736(05)67789-6
- Pearson GD, Devereux R, Loeys B, et al. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/circulationaha.108.783753
- Hiratzka LF, Bakris GL, Beckman JA, et al. 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. 2010 Apr 6;121(13):e266-369. doi: 10.1161/CIR.0b013e3181d4739e
- Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005 Jul 26;112(4):513-20. doi: 10.1161/circulationaha.105.537340
- Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844
- GeneReviews [Internet]. Bethesda, MD: National Library of Medicine; c2023. Loeys BL, Dietz HC.
Loeys-Dietz Syndrome ; 2018 Mar 1 [cited 2023 Feb 10]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1133/ . - Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695
- Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552
- GeneReviews [Internet]. Bethesda, MD: National Library of Medicine; c2023. Byers PH.
Vascular Ehlers-Danlos Syndrome ; 2019 Feb 1 [cited 2023 Feb 10]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1494/ - Ascione R, Gomes WJ, Bates M, Shannon JL, Pope FM, Angelini GD. Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome. Cardiovasc Surg. 2000 Jan;8(1):75-8. doi: 10.1016/s0967-2109(99)00070-8
- Albornoz G, Coady MA, Roberts M, et al. Familial thoracic aortic aneurysms and dissections—incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006 Oct;82(4):1400-5. doi: 10.1016/j.athoracsur.2006.04.098
- Milewicz DM, Chen H, Park ES, et al. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998 Aug 15;82(4):474-9. doi: 10.1016/s0002-9149(98)00364-6
- Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6
- Regalado ES, Guo DC, Prakash S, et al. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/circgenetics.114.000943
DOI: https://doi.org/10.14797/mdcvj.1218 | Journal eISSN: 1947-6108
Language: English
Page range: 24 - 28
Submitted on: Feb 10, 2023
Accepted on: Feb 15, 2023
Published on: Mar 7, 2023
Published by: Houston Methodist DeBakey Heart & Vascular Center
In partnership with: Paradigm Publishing Services
Keywords:
© 2023 Valeria E. Duarte, Raman Yousefzai, Michael N. Singh, published by Houston Methodist DeBakey Heart & Vascular Center
This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 License.