Familial TAAD

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection

Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.

genetic conditions

References

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Elefteriades JA, Pomianowski P. Practical genetics of thoracic aorticaneurysm. Prog Cardiovasc Dis. 2013 Jul-Aug;56(1):57-67. doi:10.1016/j.pcad.2013.06.002. Review.
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Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S,Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J,Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C,Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8;93(2):398-404.doi: 10.1016/j.ajhg.2013.06.019.
Jondeau G, Boileau C. Genetics of thoracic aortic aneurysms. Curr Atheroscler Rep. 2012 Jun;14(3):219-26. doi: 10.1007/s11883-012-0241-4. Review.
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Milewicz DM, Regalado E. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [updated 2017 Dec 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1120/
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 nonfamilialnonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum Mutat. 2009Oct;30(10):1406-11. doi: 10.1002/humu.21081.
Pyeritz RE. Heritable thoracic aortic disorders. Curr Opin Cardiol. 2014Jan;29(1):97-102. doi: 10.1097/HCO.0000000000000023. Review.

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