Aortic disease in the young: Genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections

International Journal of Vascular Medicine

Volumn 2013, Issue , 2013, Pages

  Cury, Marcelo ^a   Zeidan, Fernanda ^a   Lobato, Armando C ^a  

^a ICVE Instituto de Cirurgia Vascular e Endovascular de São Paulo   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA ANEURYSM; AORTA DISEASE; AORTA DISSECTION; BICUSPID AORTIC VALVE; CONNECTIVE TISSUE DISEASE; EHLERS DANLOS SYNDROME; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HUMAN; KIDNEY POLYCYSTIC DISEASE; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; NEUROFIBROMATOSIS; PATHOPHYSIOLOGY; REVIEW; THORACIC AORTA ANEURYSM;

EID: 84873373738     PISSN: 20902824     EISSN: 20902832     Source Type: Journal    
DOI: 10.1155/2013/267215     Document Type: Review

References (53)

1. Moore W. S., The role of endovascular grafting technique in the treatment of infrarenal abdominal aortic aneurysm. Cardiovascular Surgery 1995 3 2 109 114 2-s2.0-0028938372 10.1016/0967-2109(95)90882-6
2. Sterpetti A. V., Hunter W. J., Schultz R. D., Congenital abdominal aortic aneurysms in the young. Case report and review of the literature. Journal of Vascular Surgery 1988 7 6 763 769 2-s2.0-0023947689 10.1067/mva.1988.avs0070763
3. Majumder P. P., Jean P. L. S., Ferrell R. E., Webster M. W., Steed D. L., On the inheritance of abdominal aortic aneurysm. American Journal of Human Genetics 1991 48 1 164 170 2-s2.0-0025977581 (Pubitemid 21903039)
4. Sandford R. M., Bown M. J., London N. J., Sayers R. D., The genetic basis of abdominal aortic aneurysms: a review. European Journal of Vascular and Endovascular Surgery 2007 33 4 381 390 2-s2.0-33847354330 10.1016/j.ejvs.2006. 10.025 (Pubitemid 46336592)
5. Webster M. W., Jean P. L. S., Steed D. L., Ferrell R. E., Majumder P. P., Abdominal aortic aneurysm: results of a family study. Journal of Vascular Surgery 1991 13 3 366 372 2-s2.0-0025828223 10.1067/mva.1991.26359
6. Singh K. K., Rommel K., Mishra A., Karck M., Haverich A., Schmidtke J., Arslan-Kirchner M., TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Human Mutation 2006 27 8 770 777 2-s2.0-33747030405 10.1002/humu.20354 (Pubitemid 44205070)
7. Porciani M. C., Attanasio M., Lepri V., Prevalence of cardiovascularmanifestations in Marfan syndrome. Italian Heart Journal 2004 5 8 647 652
8. De Paepe A., Devereux R. B., Dietz H. C., Hennekam R. C., Pyeritz R. E., Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics 1996 62 4 417 426 (Pubitemid 26131122)
9. Boileau C., Guo D. C., Hanna N., Regalado E. S., Detaint D., Gong L., TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics 44 8 916 921 1038/ng.2348
10. Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R. J., Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Journal of Medical Genetics 1998 77 1 31 37
11. Lawrence E. J., The clinical presentation of Ehlers-Danlos syndrome. Advances in Neonatal Care 2005 5 6 301 314 2-s2.0-28844492265 10.1016/j.adnc.2005.09.006 (Pubitemid 41773456)
12. Whitelaw S. E., Ehlers-Danlos Syndrome, classical type: case management. Pediatric Nursing 2003 29 6 423 426 2-s2.0-1442334283
13. What is Ehlers-Danlos syndrome? Ehlers-Danlos National Foundation website. 2008, http://www.ednf.org/
14. Genetics home reference: Ehlers-Danlos syndrome. National Library of Medicine. 2008, http://www.ghr.mlm.nih.gov/
15. Germain D. P., Herrera-Guzman Y., Vascular Ehlers-Danlos syndrome. Annales de Genetique 2004 47 1 1 9 2-s2.0-1842580003 10.1016/j.anngen.2003.07. 002 (Pubitemid 38429714)
16. Wenstrup R. J., Meyer R. A., Lyle J. S., Hoechstetter L., Rose P. S., Levy H. P., Francomano C. A., Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genetics in Medicine 2002 4 3 112 117 2-s2.0-1842836370 10.1097/00125817-200205000-00003 (Pubitemid 44698569)
17. Schwarze U., Schievink W. I., Petty E., Jaff M. R., Babovic-Vuksanovic D., Cherry K. J., Pepin M., Byers P. H., Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. American Journal of Human Genetics 2001 69 5 989 1001 2-s2.0-0034759627 10.1086/324123 (Pubitemid 33015814)
18. Persikov A. V., Pillitteri R. J., Amin P., Schwarze U., Byers P. H., Brodsky B., Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Human Mutation 2004 24 4 330 337 2-s2.0-5044236064 10.1002/humu.20091 (Pubitemid 39336639)
19. Pepin M., Schwarze U., Superti-Furga A., Byers P. H., Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. New England Journal of Medicine 2000 342 10 673 680 2-s2.0-0034054910 10.1056/NEJM200003093421001 (Pubitemid 30131419)
20. Kurata A., Oka H., Ohmomo T., Ozawa H., Suzuki S., Fujii K., Kan S., Miyasaka Y., Arai H., Successful stent placement for cervical artery dissection associated with the Ehlers-Danlos syndrome: case report and review of the literature. Journal of Neurosurgery 2003 99 6 1077 1081 2-s2.0-1342310716 10.3171/jns.2003.99.6.1077 (Pubitemid 44717405)
21. Sugawara Y., Ban K., Imai K., Okada K., Watari M., Orihashi K., Sueda T., Naitoh A., Successful coil embolization for spontaneous arterial rupture in association with Ehlers-Danlos syndrome type IV: report of a case. Surgery Today 2004 34 1 94 96 2-s2.0-0346970659 10.1007/s00595-003-2634-z (Pubitemid 38067905)
22. Loeys B. L., Chen J., Neptune E. R., Judge D. P., Podowski M., Holm T., Meyers J., Leitch C. C., Katsanis N., Sharifi N., Xu F. L., Myers L. A., Spevak P. J., Cameron D. E., De Backer J., Hellemans J., Chen Y., Davis E. C., Webb C. L., Kress W., Coucke P., Rifkin D. B., De Paepe A. M., Dietz H. C., A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics 2005 37 3 275 281 2-s2.0-20144367207 10.1038/ng1511 (Pubitemid 41716254)
23. Loeys B. L., Schwarze U., Holm T., Callewaert B. L., Thomas G. H., Pannu H., De Backer J. F., Oswald G. L., Symoens S., Manouvrier S., Roberts A. E., Faravelli F., Alba Greco M., Pyeritz R. E., Milewicz D. M., Coucke P. J., Cameron D. E., Braverman A. C., Byers P. H., De Paepe A. M., Dietz H. C., Aneurysm syndromes caused by mutations in the TGF- β receptor. The New England Journal of Medicine 2006 355 8 788 798 2-s2.0-33747812887 10.1056/NEJMoa055695 (Pubitemid 44285584)
24. Williams J. A., Loeys B. L., Nwakanma L. U., Dietz H. C., Spevak P. J., Patel N. D., François K., DeBacker J., Gott V. L., Vricella L. A., Cameron D. E., Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Annals of Thoracic Surgery 2007 83 2 S757 S763 2-s2.0-33846370126 10.1016/j.athoracsur.2006.10.091 (Pubitemid 46135491)
25. Coady M. A., Davies R. R., Roberts M., Goldstein L. J., Rogalski M. J., Rizzo J. A., Hammond G. L., Kopf G. S., Elefteriades J. A., Familial patterns of thoracic aortic aneurysms. Archives of Surgery 1999 134 4 361 367 2-s2.0-0033017099 10.1001/archsurg.134.4.361 (Pubitemid 29282076)
26. Bart L., Loeys B. L., Dietz C. H., Loeys-Dietz syndrome. Gene reviews. 2008, http://www.ncbi.nlm.nih.gov/books/NBK1133
27. Guo D., Hasham S., Kuang S. Q., Vaughan C. J., Boerwinkle E., Chen H., Abuelo D., Dietz H. C., Basson C. T., Shete S. S., Milewicz D. M., Familial thoracic aortic aneurysms and dissections genetic: heterogeneity with a major locus mapping to 5q13-14. Circulation 2001 103 20 2461 2468 2-s2.0-0035933045 (Pubitemid 32493372)
28. Vaughan C. J., Casey M., He J., Veugelers M., Henderson K., Guo D., Campagna R., Roman M. J., Milewicz D. M., Devereux R. B., Basson C. T., Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 2001 103 20 2469 2475 2-s2.0-0035933002 (Pubitemid 32493373)
29. Pannu H., Avidan N., Tran-Fadulu V., Milewicz D. M., Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms. Annals of the New York Academy of Sciences 2006 1085 242 255 2-s2.0-34249709962 10.1196/annals.1383.024 (Pubitemid 47091996)
30. Zhu L., Vranckx R., Van Kien P. K., Lalande A., Boisset N., Mathieu F., Wegman M., Glancy L., Gasc J. M., Brunotte F., Bruneval P., Wolf J. E., Michel J. B., Jeunemaitre X., Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nature Genetics 2006 38 3 343 349 2-s2.0-33644627494 10.1038/ng1721
31. Guo D. C., Pannu H., Tran-Fadulu V., Papke C. L., Yu R. K., Avidan N., Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature Genetics 2007 39 12 1488 1493 10.1038/ng.2007.6 (Pubitemid 350191352)
32. Alegret J. M., Duran I., Palazón O., Vernis J. M., Ameijide A., Rabassa A., Masana L., Prevalence of and predictors of bicuspid aortic valves in patients with dilated aortic roots. American Journal of Cardiology 2003 91 5 619 622 2-s2.0-0037373809 10.1016/S0002-9149(02)03324-6 (Pubitemid 36263273)
33. Cecconi M., Nistri S., Quarti A., Manfrin M., Colonna P. L., Molini E., Perna G. P., Aortic dilatation in patients with bicuspid aortic valve. Journal of Cardiovascular Medicine 2006 7 1 11 20 2-s2.0-33744470850 10.2459/01.JCM.0000199777.85343.ec (Pubitemid 44132811)
34. Della C. A., Bancone C., Quarto C., Dialetto G., Covino F. E., Scardone M., Caianiello G., Cotrufo M., Predictors of ascending aortic dilatation with bicuspid aortic valve: a wide spectrum of disease expression. European Journal of Cardio-thoracic Surgery 2007 31 3 397 405 2-s2.0-33847309202 10.1016/j.ejcts.2006.12.006 (Pubitemid 46329398)
35. Gleason T. G., Heritable disorders predisposing to aortic dissection. Seminars in Thoracic and Cardiovascular Surgery 2005 17 3 274 281 2-s2.0-27744567567 10.1053/j.semtcvs.2005.06.001 (Pubitemid 41614086)
36. Niwa K., Perloff J. K., Bhuta S. M., Laks H., Drinkwater D. C., Child J. S., Miner P. D., Structural abnormalities of great arterial walls in congenital heart disease: light and electron microscopic analyses. Circulation 2001 103 3 393 400 2-s2.0-0035936529 (Pubitemid 32105979)
37. Bauer M., Pasic M., Meyer R., Goetze N., Bauer U., Siniawski H., Hetzer R., Morphometric analysis of aortic media in patients with bicuspid and tricuspid aortic valve. Annals of Thoracic Surgery 2002 74 1 58 62 2-s2.0-0036304362 10.1016/S0003-4975(02)03650-0 (Pubitemid 34734646)
38. Martin L. J., Ramachandran V., Cripe L. H., Hinton R. B., Andelfinger G., Tabangin M., Shooner K., Keddache M., Benson D. W., Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Human Genetics 2007 121 2 275 284 2-s2.0-33947144645 10.1007/s00439-006-0316-9 (Pubitemid 46404461)
39. Hateboer N., Dijk M. A. V., Bogdanova N., Coto E., Saggar-Malik A. K., San Millan J. L., Torra R., Breuning M., Ravine D., Comparison of phonotypes of polycystic kidney disease types 1 and 2. The Lancet 1999 353 9147 103 107 2-s2.0-0033537164 10.1016/S0140-6736(98)03495-3 (Pubitemid 29088079)
40. Romão E. A., Moysés Neto M., Teixeira S. R., Muglia V. F., Vieira-Neto O. M., Dantas M., Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease. Brazilian Journal of Medical and Biological Research 2006 39 4 533 538 2-s2.0-33645824146
41. Tahvanainen E., Tahvanainen P., Kääriäinen H., Höckerstedt K., Polycystic liver and kidney diseases. Annals of Medicine 2005 37 8 546 555 2-s2.0-28844484475 10.1080/07853890500389181 (Pubitemid 41780143)
42. Lee C. C., Chang W. T., Fang C. C., Tsai I. L., Chen W. J., Sudden death caused by dissecting thoracic aortic aneurysm in a patient with autosomal dominant polycystic kidney disease. Resuscitation 2004 63 1 93 96 2-s2.0-4644231014 10.1016/j.resuscitation.2004.03.019 (Pubitemid 39297038)
43. Biermann C. W., Rutishauser G., Polycystic kidneys associated with Marfan syndrome in an adult. Scandinavian Journal of Urology and Nephrology 1994 28 3 295 296 (Pubitemid 24297353)
44. Vanmaele R., Witbreuk M., De Broe M., Van Schil P., Lins R., Abdominal aortic aneurysm and polycystic kidneys [12]. Nephron 1995 69 1 107 108 2-s2.0-0028815482
45. Bichet D., Peters D., Patel A. J., Delmas P., Honoré E., Cardiovascular polycystins: insights from autosomal dominant polycystic kidney disease and transgenic animal models. Trends in Cardiovascular Medicine 2006 16 8 292 298 2-s2.0-33750031541 10.1016/j.tcm.2006.07.002 (Pubitemid 44572806)
46. Torres V. E., Cai Y., Chen X., Wu G. Q., Geng L., Cleghorn K. A., Johnson C. M., Somlo S., Vascular expression of polycystin-2. Journal of the American Society of Nephrology 2001 12 1 1 9 2-s2.0-0035169358 (Pubitemid 32056783)
47. Matura L. A., Ho V. B., Rosing D. R., Bondy C. A., Aortic dilatation and dissection in Turner syndrome. Circulation 2007 116 15 1663 1670 2-s2.0-34347340473 10.1161/CIRCULATIONAHA.106.685487 (Pubitemid 47542238)
48. Ho V. B., Bakalov V. K., Cooley M., Van P. L., Hood M. N., Burklow T. R., Bondy C. A., Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004 110 12 1694 1700 2-s2.0-4644238044 10.1161/01.CIR.0000142290.35842.B0 (Pubitemid 39297995)
49. Seymour-Dempsey K., Andrassy R. J., Neurofibromatosis: implications for the general surgeon. Journal of the American College of Surgeons 2002 195 4 553 563 2-s2.0-0036791968 10.1016/S1072-7515(02)01252-8
50. Gutmann D. H., Aylsworth A., Carey J. C., Korf B., Marks J., Pyeritz R. E., Rubenstein A., Viskochil D., The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Journal of the American Medical Association 1997 278 1 51 57 2-s2.0-0030957310 (Pubitemid 27274517)
51. Cho Y. P., Kang G. H., Choi S. J., Herr H., Han M. S., Jang H. J., Aneurysm of the popliteal artery in neurofibromatosis. Annals of Vascular Surgery 2005 19 536 900 903 (Pubitemid 41570067)
52. Huffman J. L., Gahtan V., Bowers V. D., Mills J. L., Neurofibromatosis and arterial aneurysms. American Surgeon 1996 62 4 311 314 2-s2.0-0029865714 (Pubitemid 26105233)
53. Saitoh S., Matsuda S., Aneurysm of the major vessels in neurofibromatosis. Archives of Orthopaedic and Trauma Surgery 1998 117 1-2 110 113 2-s2.0-0031984303 10.1007/s004020050207 (Pubitemid 28058573)