title: The genetics and genomics of thoracic aortic disease.
abstract: Genetic studies over the past several decades have helped to better elucidate the genomics and inheritance of thoracic aortic diseases. Seminal work from various researchers have identified several genetic factors and mutations that predispose to aortic aneurysms, which will aid in better screening and early intervention, resulting in better clinical outcomes. Syndromic aneurysms have been associated with Marfan syndrome, Loeys-Dietz syndrome, aneurysm osteoarthritis syndrome, arterial tortuosity syndrome, Ehlers-Danlos Syndrome, and TGFβ mutation. Mutations in MYH11, TGFβR1, TGFβR2, MYLK, and ACTA2 genes have been linked to familial non-syndromic cases, although linkage analysis is limited by incomplete penetrance and/or locus heterogeneity. This overview presents a summary of key genetic and genomic factors that are associated with thoracic aortic diseases.
authors: Yale University School of Medicine, New Haven, Connecticut, USA.
authors: Pawel
authors: P
authors: Pomianowski
authors: John A
authors: JA
authors: Elefteriades
keywords: Aortic disease; genetics; non-syndromic aortic aneurysm; syndromic aortic aneurysm
references: Heart. 2011 Feb;97(4):321-6
references: 21212136
references: Am J Hum Genet. 2010 Nov 12;87(5):701-7
references: 21055718
references: Hum Mol Genet. 2007 Oct 15;16(20):2453-62
references: 17666408
references: Circ Res. 2012 May 25;110(11):1411-22
references: 22511748
references: J Vasc Surg. 1997 Mar;25(3):506-11
references: 9081132
references: Curr Opin Pediatr. 2012 Aug;24(4):498-504
references: 22705998
references: Cardiol Clin. 2010 May;28(2):191-7
references: 20452526
references: J Vasc Surg. 2005 Jul;42(1):98-106
references: 16012458
references: Int J Cardiol. 2013 May 10;165(2):314-21
references: 21937134
references: Ann Thorac Surg. 2006 Oct;82(4):1400-5
references: 16996941
references: Int J Cardiol. 2009 Jan 9;131(2):281-4
references: 17936924
references: N Engl J Med. 2006 Aug 24;355(8):788-98
references: 16928994
references: Nat Genet. 2006 Mar;38(3):343-9
references: 16444274
references: Mayo Clin Proc. 2004 Feb;79(2):176-80
references: 14959911
references: Am J Med Genet A. 2004 Dec 1;131(2):134-43
references: 15529317
references: Nat Genet. 2007 Dec;39(12):1488-93
references: 17994018
references: Curr Opin Cardiol. 2010 Nov;25(6):546-51
references: 20838339
references: Am J Surg. 1984 Apr;147(4):551-3
references: 6538765
references: Circ Res. 2001 Jan 19;88(1):37-43
references: 11139471
references: Arch Surg. 1999 Apr;134(4):361-7
references: 10199307
references: Nat Genet. 2012 Jul 08;44(8):916-21
references: 22772371
references: Circulation. 2001 May 22;103(20):2461-8
references: 11369686
references: Am J Med Genet A. 2010 Oct;152A(10):2437-43
references: 20734336
references: Nat Rev Cardiol. 2009 Dec;6(12):771-86
references: 19884902
references: Nat Genet. 2011 Feb;43(2):121-6
references: 21217753
references: J Am Coll Cardiol. 2012 Jul 31;60(5):397-403
references: 22633655
references: Orphanet J Rare Dis. 2007 Jul 19;2:32
references: 17640391
references: J Biol Chem. 2001 Feb 16;276(7):4527-30
references: 11096123
references: Nat Genet. 2006 Apr;38(4):452-7
references: 16550171
references: Nat Genet. 2005 Mar;37(3):275-81
references: 15731757
references: Annu Rev Genomics Hum Genet. 2008;9:283-302
references: 18544034
references: Circ Res. 2011 Sep 2;109(6):680-6
references: 21778426
references: Circulation. 2001 May 22;103(20):2469-75
references: 11369687
references: Hum Mutat. 2009 Oct;30(10):1406-11
references: 19639654
references: Md Med J. 1998 Nov;47(5):247-52
references: 9798380
references: N Engl J Med. 2000 Mar 9;342(10):673-80
references: 10706896
references: Eur J Hum Genet. 2011 May;19(5):520-4
references: 21248741
references: J Med Genet. 2003 Oct;40(10):747-51
references: 14569121
references: J Med Genet. 2012 Jan;49(1):47-57
references: 22167769
references: Hum Mutat. 2004 Aug;24(2):140-6
references: 15241795
references: Am J Hum Genet. 2009 May;84(5):617-27
references: 19409525
references: Arch Surg. 1981 Aug;116(8):1030-2
references: 7259507
references: Ann Clin Lab Sci. 2010 Summer;40(3):278-84
references: 20689142
references: J Vasc Res. 2009;46(2):119-37
references: 18765947
references: J Med Genet. 2002 Aug;39(8):589-93
references: 12161601