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Aortic aneurysm, familial thoracic 11, susceptibility to(AAT11)

MedGen UID:
1377970
Concept ID:
C4479235
Finding
Synonym: AAT11
 
Gene (location): FOXE3 (1p33)
 
Monarch Initiative: MONDO:0044301
OMIM®: 617349

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

Clinical features

From HPO
Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Ascending aortic dissection
MedGen UID:
322966
Concept ID:
C1836653
Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Descending aortic dissection
MedGen UID:
868484
Concept ID:
C4022878
Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.

Professional guidelines

PubMed

Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S
J Vasc Surg 2018 Sep;68(3):701-711. Epub 2018 Mar 3 doi: 10.1016/j.jvs.2017.12.023. PMID: 29510914

Recent clinical studies

Etiology

Murad AM, Hill HL, Wang Y, Ghannam M, Yang ML, Pugh NL, Asch FM, Hornsby W, Driscoll A, McNamara J, Willer CJ, Regalado ES; GenTAC Investigators; Montalcino Aortic Consortium Investigators, Milewicz DM, Eagle KA, Ganesh SK
Am J Med Genet A 2022 May;188(5):1448-1456. Epub 2022 Jan 29 doi: 10.1002/ajmg.a.62661. PMID: 35092149Free PMC Article
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article
Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S
J Vasc Surg 2018 Sep;68(3):701-711. Epub 2018 Mar 3 doi: 10.1016/j.jvs.2017.12.023. PMID: 29510914
Wung SF, Aouizerat BE
J Cardiovasc Nurs 2004 Nov-Dec;19(6):409-16. doi: 10.1097/00005082-200411000-00013. PMID: 15529063

Diagnosis

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
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article
Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S
J Vasc Surg 2018 Sep;68(3):701-711. Epub 2018 Mar 3 doi: 10.1016/j.jvs.2017.12.023. PMID: 29510914
Wang J, Yan Y, Chen J, Gong L, Zhang Y, Yuan M, Cui B, Wang Y
Mol Biol Rep 2016 Nov;43(11):1227-1232. Epub 2016 Aug 24 doi: 10.1007/s11033-016-4067-y. PMID: 27558095
Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M
Cardiol Young 2015 Apr;25(4):712-7. Epub 2014 Jun 16 doi: 10.1017/S1047951114000766. PMID: 24932728

Prognosis

Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB
Hum Mutat 2020 May;41(5):973-982. Epub 2020 Feb 6 doi: 10.1002/humu.23986. PMID: 31944481
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ
Genet Med 2018 Nov;20(11):1414-1422. Epub 2018 Mar 15 doi: 10.1038/gim.2018.27. PMID: 29543232Free PMC Article
Nchimi A, Cheramy-Bien JP, Gasser TC, Namur G, Gomez P, Seidel L, Albert A, Defraigne JO, Labropoulos N, Sakalihasan N
Circ Cardiovasc Imaging 2014 Jan;7(1):82-91. Epub 2013 Nov 4 doi: 10.1161/CIRCIMAGING.112.000415. PMID: 24190906
Fikar CR, Fikar R
Clin Cardiol 2009 Jun;32(6):E23-6. doi: 10.1002/clc.20383. PMID: 19322890Free PMC Article

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
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM
Am J Hum Genet 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. PMID: 29625025Free PMC Article
van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT; Aneurysm Consortium; Vascular Research Consortium of New Zealand, Han B, Rinkel GJ, de Bakker PI
J Am Heart Assoc 2016 Jul 14;5(7) doi: 10.1161/JAHA.115.002603. PMID: 27418160Free PMC Article
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL
J Am Coll Cardiol 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. PMID: 25835445Free PMC Article
Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT
Circulation 2001 May 22;103(20):2469-75. doi: 10.1161/01.cir.103.20.2469. PMID: 11369687

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