Genetic testing in aortic aneurysm disease: PRO.
Thoracic aortic aneurysms leading to type A dissections (TAAD) are the major diseases affecting the aorta. A genetic predisposition for TAAD can occur as part of a genetic syndrome. It can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Genetic heterogeneity for familial TAAD has been demonstrated with the identification of four genes leading to TAAD. Genetic testing for TAAD and the phenotype and management of patients harboring mutations in these genes are addressed in this article.
Milewicz
Dianna M
DM
Department of Internal Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 6.100, Houston, TX 77030, USA. Dianna.m.milewicz@uth.tmc.edu
Carlson
Alicia A
AA
Regalado
Ellen S
ES
D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015203:Reproducibility of Results
Lancet. 1972 May 6;1(7758):1026-7
4112361
Nat Genet. 2007 Dec;39(12):1488-93
17994018
Hum Mol Genet. 2007 Oct 15;16(20):2453-62
17666408
Am J Med Genet A. 2007 Sep 1;143A(17):1960-7
17676603
Eur J Hum Genet. 2009 Sep;17(9):1121-8
19293843
Circulation. 1996 Dec 1;94(11):2708-11
8941093
Eur J Hum Genet. 2004 Mar;12(3):173-80
14722581
Nat Genet. 1994 Nov;8(3):264-8
7632217
Circulation. 2005 Jul 26;112(4):513-20
16027248
Ann Thorac Surg. 2007 Feb;83(2):S757-63; discussion S785-90
17257922
Am J Med Genet. 1996 Apr 24;62(4):336-8
8723060
Hum Mutat. 2004 Aug;24(2):140-6
15241795
Am J Cardiol. 1994 Feb 15;73(5):400-4
8109558
Arch Dis Child. 2001 Feb;84(2):129-37
11159287
Ann Thorac Surg. 2006 Oct;82(4):1400-5
16996941
Nat Genet. 1995 Mar;9(3):228-31
7773282
N Engl J Med. 2006 Aug 24;355(8):788-98
16928994
Nat Genet. 2006 Mar;38(3):343-9
16444274
J Am Coll Cardiol. 1989 Mar 15;13(4):811-9
2647812
J Biol Chem. 1984 Dec 10;259(23):14383-8
6501298
Am J Hum Genet. 1995 Jun;56(6):1287-96
7762551
Arch Surg. 1999 Apr;134(4):361-7
10199307
Am J Hum Genet. 1993 Jul;53(1):46-54
8317497
Am J Cardiol. 1995 Jan 15;75(2):157-60
7810492
J Vasc Surg. 1997 Mar;25(3):506-11
9081132
Circulation. 1995 Feb 1;91(3):728-33
7828300
J Med Genet. 2009 Sep;46(9):607-13
19542084
Nat Genet. 2005 Mar;37(3):275-81
15731757
J Med Genet. 2006 Dec;43(12):908-16
16885183
J Clin Invest. 1995 May;95(5):2373-8
7738200
Circulation. 2005 Jul 12;112(2):200-6
15998682
Am J Cardiol. 1998 Aug 15;82(4):474-9
9723636
J Am Coll Cardiol. 1995 Oct;26(4):1062-7
7560600
Hum Mutat. 2002 Sep;20(3):197-208
12203992
Nat Clin Pract Cardiovasc Med. 2007 Mar;4(3):167-71
17330129
Am J Med Genet. 2002 May 15;109(4):261-70
11992479
Am J Cardiol. 2001 Mar 15;87(6):813-5, A9
11249915
Circulation. 2005 Mar 22;111(11):e150-7
15781745
Am J Hum Genet. 2009 May;84(5):617-27
19409525