Familial thoracic aortic aneurysms and dissections identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection

Circulation: Cardiovascular Genetics

Volumn 4, Issue 1, 2011, Pages 36-42

  Guo, Dong Chuan ^a   Regalado, Ellen S ^a   Minn, Charles ^a   Tran Fadulu, Van ^a   Coney, Joshua ^a   Cao, Jiumei ^a   Wang, Min ^a   Yu, Robert K ^b   Estrera, Anthony L ^a   Safi, Hazim J ^a   Shete, Sanjay S ^b   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Aneurysm; Aorta; Dissection genes; Genome wide association analysis; Mapping; Risk

Indexed keywords

ADULT; AORTA DISSECTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 12; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; PENETRANCE; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM;

ADULT; AGED; AGED, 80 AND OVER; ANEURYSM, DISSECTING; AORTA; AORTIC ANEURYSM, THORACIC; CHROMOSOMES, HUMAN, PAIR 12; DISEASE PROGRESSION; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 79952779871     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.958066     Document Type: Article

References (20)

1. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: executive summary. 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;121: e266-e369.
2. Pape LA, Tsai TT, Isselbacher EM, Oh JK, O'Gara PT, Evangelista A, Fattori R, Meinhardt G, Trimarchi S, Bossone E, Suzuki T, Cooper JV, Froehlich JB, Nienaber CA, Eagle KA. Aortic diameter ≥5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007; 116:1120-1127. (Pubitemid 47360214)
3. Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997;25: 506-511. (Pubitemid 27136975)
4. 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;82:1400-1405. (Pubitemid 44402354)
5. Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998;82: 474-479. (Pubitemid 28392280)
6. Pannu H, Fadulu V, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112:513-520. (Pubitemid 41060791)
7. Guo DC, Pannu H, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete S, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39:1488-1493. (Pubitemid 350191352)
8. Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001;103:2461-2468. (Pubitemid 32493372)
9. Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103:2469-2475. (Pubitemid 32493373)
10. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet. 2000;25:12-13. (Pubitemid 30257026)
11. Elefteriades JA. Thoracic aortic aneurysm: reading the enemy's playbook. Yale J Biol Med. 2008;81:175-186.
12. Masuda Y, Takanashi K, Takasu J, Morooka N, Inagaki Y. Expansion rate of thoracic aortic aneurysms and influencing factors. Chest. 1992; 102:461-466.
13. Okura T, Kitami Y, Takata Y, Fukuoka T, Arimitsu J, Hiwada K. Giant unruptured aneurysm of the thoracic aorta - A case report. Angiology. 1999;50:865-869. (Pubitemid 29489716)
14. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788-798. (Pubitemid 44285584)
15. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4: 1799-1809.
16. Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005;111:e150-e157.
17. Tran-Fadulu V, Pannu H, Kim DH, Vick GW III, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009;46:607-613.
18. Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. 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. Am J Hum Genet. 2001;69:989-1001. (Pubitemid 33015814)
19. Milewicz DM, Guo D, Tran-Fadulu V, Lafont A, Papke C, Inamoto S, Pannu H. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302.
20. Moiseeva EP. Adhesion receptors of vascular smooth muscle cells and their functions. Cardiovasc Res. 2001;52:372-386. (Pubitemid 33153100)