Genetic Conditions > familial thoracic aortic aneurysm and dissection >

References

These sources were used to develop the Genetics Home Reference condition summary on familial thoracic aortic aneurysm and dissection.

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 Oct;82(4):1400-5. PubMed citation
Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 Feb;152A(2):413-6. doi: 10.1002/ajmg.a.32856. PubMed citation
Elefteriades JA. Thoracic aortic aneurysm: reading the enemy's playbook. Curr Probl Cardiol. 2008 May;33(5):203-77. doi: 10.1016/j.cpcardiol.2008.01.004. Review. PubMed citation
El-Hamamsy I, Yacoub MH. Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat Rev Cardiol. 2009 Dec;6(12):771-86. doi: 10.1038/nrcardio.2009.191. Epub 2009 Nov 3. Review. PubMed citation
Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections
Grond-Ginsbach C, Pjontek R, Aksay SS, Hyhlik-Dürr A, Böckler D, Gross-Weissmann ML. Spontaneous arterial dissection: phenotype and molecular pathogenesis. Cell Mol Life Sci. 2010 Jun;67(11):1799-815. doi: 10.1007/s00018-010-0276-z. Epub 2010 Feb 14. Review. PubMed citation
Guo DC, Pannu H, Tran-Fadulu V, 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 SS, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec;39(12):1488-93. Epub 2007 Nov 11. Erratum in: Nat Genet. 2008 Feb;40(2):255. PubMed citation
Milewicz DM, Carlson AA, Regalado ES. Genetic testing in aortic aneurysm disease: PRO. Cardiol Clin. 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017. Review. PubMed citation
Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, 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. doi: 10.1146/annurev.genom.8.080706.092303. Review. PubMed citation
Morisaki H, Akutsu K, Ogino H, Kondo N, Yamanaka I, Tsutsumi Y, Yoshimuta T, Okajima T, Matsuda H, Minatoya K, Sasaki H, Tanaka H, Ishibashi-Ueda H, Morisaki T. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum Mutat. 2009 Oct;30(10):1406-11. doi: 10.1002/humu.21081. PubMed citation
Pannu H, Avidan N, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms. Ann N Y Acad Sci. 2006 Nov;1085:242-55. PubMed citation
Pannu H, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and aortic dissections. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):10-6. Review. PubMed citation
Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project, Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21. PubMed citation