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Aortic aneurysm, familial thoracic 2(AAT2)

MedGen UID:
335538
Concept ID:
C1846837
Disease or Syndrome
Synonym: AAT2
 
Monarch Initiative: MONDO:0011770
OMIM®: 607087

Authors:
Dianna M Milewicz  |  Alana C Cecchi   view full author information

Professional guidelines

PubMed

Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A 2023 Jan;191(1):37-51. Epub 2022 Oct 3 doi: 10.1002/ajmg.a.62982. PMID: 36189931Free PMC Article
Harris SL, Lindsay ME
Curr Cardiol Rep 2021 Jan 21;23(2):10. doi: 10.1007/s11886-020-01435-6. PMID: 33475873
Verstraeten A, Luyckx I, Loeys B
Nat Rev Cardiol 2017 Apr;14(4):197-208. Epub 2017 Jan 19 doi: 10.1038/nrcardio.2016.211. PMID: 28102232

Recent clinical studies

Etiology

Almostafa AE, Al-Korashy MM, Al-Ruwaili NS, Takroni S, Alhabdan M, AlQwaee A, Issa Z, Khouqeer F, Albert Brotons DC, Almesned A, Alhalees Z, Al-Hassnan ZN
Int J Cardiol 2025 Feb 1;420:132695. Epub 2024 Nov 1 doi: 10.1016/j.ijcard.2024.132695. PMID: 39489349
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Diagnosis

Krywanczyk A, Rodriguez ER, Tan CD, Gilson T
Am J Forensic Med Pathol 2023 Jun 1;44(2):69-76. Epub 2023 Mar 3 doi: 10.1097/PAF.0000000000000819. PMID: 36877084
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Milewicz DM, Carlson AA, Regalado ES
Cardiol Clin 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017. PMID: 20452526Free PMC Article
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Therapy

Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Cirillo-Penn NC, Mendes BC, Tenorio ER, Cajas-Monson LC, D'Oria M, Oderich GS, DeMartino RR
J Vasc Surg 2023 Oct;78(4):874-882. Epub 2023 Jun 7 doi: 10.1016/j.jvs.2023.05.049. PMID: 37290733
Kane BS, Shamsa K
Tex Heart Inst J 2019 Feb;46(1):41-43. Epub 2019 Feb 1 doi: 10.14503/THIJ-17-6387. PMID: 30833837Free PMC Article
Shalhub S, Eagle KA, Asch FM, LeMaire SA, Milewicz DM; GenTAC Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium
J Vasc Surg 2018 Aug;68(2):364-371. Epub 2018 Mar 19 doi: 10.1016/j.jvs.2017.11.095. PMID: 29567025
Jones JW, McCullough LB
J Vasc Surg 2015 Feb;61(2):533-4. doi: 10.1016/j.jvs.2014.12.001. PMID: 25619578

Prognosis

Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Cheng A, Owens D
Br J Sports Med 2016 Jan;50(2):100-4. doi: 10.1136/bjsports-2014-306440rep. PMID: 26729892

Clinical prediction guides

Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *
J Am Heart Assoc 2024 Nov 5;13(21):e036274. Epub 2024 Oct 18 doi: 10.1161/JAHA.124.036274. PMID: 39424426
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators, Milewicz DM, Prakash SK
Am J Hum Genet 2024 Oct 3;111(10):2219-2231. Epub 2024 Sep 2 doi: 10.1016/j.ajhg.2024.08.001. PMID: 39226896Free PMC Article
Wei Y, Feng Y, Danesh Yazdi M, Yin K, Castro E, Shtein A, Qiu X, Peralta AA, Coull BA, Dominici F, Schwartz JD
BMJ 2024 Feb 21;384:e076939. doi: 10.1136/bmj-2023-076939. PMID: 38383041Free PMC Article
Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):1-11. Epub 2017 Dec 4 doi: 10.1007/s11748-017-0874-x. PMID: 29204794
Elefteriades JA, Ziganshin BA
Semin Thorac Cardiovasc Surg 2016 Winter;28(4):776-782. Epub 2016 Oct 14 doi: 10.1053/j.semtcvs.2016.10.006. PMID: 28417864

Recent systematic reviews

Machin M, Wanhainen A, D'Oria M, Koelemaij M, Kakkos S, Grima MJ, Powell JT; collaborators
Eur J Vasc Endovasc Surg 2024 Sep;68(3):294-302. Epub 2024 Apr 26 doi: 10.1016/j.ejvs.2024.04.029. PMID: 38677466
Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article

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