Large-caliber vessels are those with a diameter of 10 mm or more. Most aneurysms remain asymptomatic until they expand or rupture. Aortic aneurysms are of special interest for physicians and scientists because of their prevalence. Aortic aneurysms and dissections account for 1-2% of all deaths in western countries. Expansion and rupture of vascular aneurysms show a strong correlation with hyperlipidemia, hypertension, smoking, sex and age. Heritability estimates have been as high as 70%. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
1. Gusani R, Shukla R, Kothari S, Bhatt R, Patel J. Inferior vena cava aneurysm presenting as deep vein thrombosis − A case report. International Journal of Surgery Case Reports 2016; 29: 123-25.
2. Erkanli K, Yazici P, Bakir I. Pulmonary vein aneurysm secondary to mitral regurgitation: rare and confusing lesion. Thorac Cardiovasc Surg 2014; 62(1): 83-4.
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62(4): 417-26.
4. Gillis E, Van Laer L, Loeys BL. Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility. Circ Res 2013; 113(3): 327-40.
5. Lindsay ME, Dietz. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature 2011; 473(7347): 308-16.
6. Ramanath VS, Oh JK, Sundt TM 3rd, Eagle KA. Acute aortic syndromes and thoracic aortic aneurysm. Mayo Clin Proc 2009; 84(5): 465-81.
7. Blanchard JF, Armenian HK, Friesen PP. Risk factors for abdominal aortic aneurysm: results of a case-control study. Am J Epidemiol 2000; 151(6): 575-83.
8. Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997; 25(3): 506-11.
9. Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006; 82(4): 1400-05.
10. Singh K, Bønaa KH, Jacobsen BK, Bjørk L, Solberg S. Prevalence of and risk factors for abdominal aortic aneurysms in a population-based study : The Tromsø Study. Am J Epidemiol 2001; 154(3): 236-44.
11. Thompson RW, Parks WC. Role of matrix metalloproteinases in abdominal aortic aneurysms. Ann N Y Acad Sci 1996; 800: 157-74.
12. Sandford RM, Bown MJ, London NJ, Sayers RD. The genetic basis of abdominal aortic aneurysms: a review. Eur J Vasc Endovasc Surg 2007; 33(4): 381-90.
14. Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 2012; 44(11): 1249-54
15. Guo, D, Gong, L, Regalado, ES, Santos-Cortez, RL, Zhao, R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium, Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am. J. Hum. Genet 2015; 96(1): 170-77.
16. Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Hum Mutat 2015; 36(12): 1145-49.
17. Ziganshin BA, Bailey AE, Coons C, Dykas D, Charilaou P, Tanriverdi LH, Liu L, Tranquilli M, Bale AE, Elefteriades JA. Routine Genetic Testing for ThoracicAortic Aneurysm and Dissection in a Clinical Setting. Ann Thorac Surg 2015; 100(5): 1604-11.
18. Milewicz DM, Regalado E. Heritable Thoracic Aortic Disease Overview. [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1120/.
19. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Gwenaelle Collod-Beroud, Julie De Backer, Anne De Paepe, Anna Dierking, Laurence Faivre, Sabine Hoffjan, Guillaume Jondeau, Britta Keyser, Bart Loeys, Karin Mayer, Peter N Robinson, and Jörg Schmidtke. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Eur J Hum Genet 2016; 24(1): 146-150.
20. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009; 58(RR-6): 1-37.