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Congenital aneurysm of ascending aorta(AAT1)

MedGen UID:
91038
Concept ID:
C0345050
Congenital Abnormality
Synonyms: AAT1; Annuloaortic ectasia; AORTIC ANEURYSM, FAMILIAL THORACIC 1; Aortic aneurysm, thoracic; Familial aortic dissection; Familial thoracic aortic aneurysm
SNOMED CT: Familial aortic dissection (45894003); Congenital aneurysm of ascending aorta (253646008); Annuloaortic ectasia (253646008)
 
Monarch Initiative: MONDO:0024559
OMIM®: 607086
Orphanet: ORPHA229

Definition

Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. Genetic Heterogeneity of Thoracic Aortic Aneurysm Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349). Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively). Reviews Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways. [from OMIM]

Term Hierarchy

Follow this link to review classifications for Congenital aneurysm of ascending aorta in Orphanet.

Professional guidelines

PubMed

Schneider H, Uebing A, Shore DF
J Cardiovasc Surg (Torino) 2016 Aug;57(4):557-68. Epub 2016 May 31 PMID: 27243624
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
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Prandstraller D, Mazzanti L, Giardini A, Lovato L, Tamburrino F, Scarano E, Cicognani A, Fattori R, Picchio FM
Cardiol Young 2009 Jun;19(3):264-71. Epub 2009 Apr 6 doi: 10.1017/S1047951109004016. PMID: 19344538

Recent clinical studies

Etiology

Ganizada BH, Veltrop RJA, Akbulut AC, Koenen RR, Accord R, Lorusso R, Maessen JG, Reesink K, Bidar E, Schurgers LJ
Basic Res Cardiol 2024 Jun;119(3):371-395. Epub 2024 May 3 doi: 10.1007/s00395-024-01053-1. PMID: 38700707Free PMC Article
Wu J, Zafar MA, Liu Y, Chen JF, Li Y, Ziganshin BA, Ellauzi H, Mukherjee SK, Rizzo JA, Elefteriades JA
Eur Heart J 2023 Nov 14;44(43):4579-4588. doi: 10.1093/eurheartj/ehad148. PMID: 36994934
Forte A, Balistreri CR, De Feo M, Della Corte A, Hellstrand P, Persson L, Nilsson BO
J Mol Cell Cardiol 2019 Apr;129:179-187. Epub 2019 Feb 28 doi: 10.1016/j.yjmcc.2019.02.014. PMID: 30825483
Papagiannis J
Cardiol Young 2017 Jan;27(S1):S36-S42. doi: 10.1017/S1047951116002213. PMID: 28084959
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Diagnosis

Ganizada BH, Veltrop RJA, Akbulut AC, Koenen RR, Accord R, Lorusso R, Maessen JG, Reesink K, Bidar E, Schurgers LJ
Basic Res Cardiol 2024 Jun;119(3):371-395. Epub 2024 May 3 doi: 10.1007/s00395-024-01053-1. PMID: 38700707Free PMC Article
Kong WKF, Bax JJ, Michelena HI, Delgado V
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):452-456. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.004. PMID: 32599025
Papagiannis J
Cardiol Young 2017 Jan;27(S1):S36-S42. doi: 10.1017/S1047951116002213. PMID: 28084959
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534
Braverman AC, Güven H, Beardslee MA, Makan M, Kates AM, Moon MR
Curr Probl Cardiol 2005 Sep;30(9):470-522. doi: 10.1016/j.cpcardiol.2005.06.002. PMID: 16129122

Therapy

Meccanici F, Schotte MH, Snoeren M, Bons LR, van den Hoven AT, Kardys I, Budde RPJ, van den Bosch AE, Duijnhouwer AL, Roos-Hesselink JW
Heart 2022 Dec 22;109(2):102-110. doi: 10.1136/heartjnl-2022-320922. PMID: 35705330
Ancona MB, Moroni F, Chieffo A, Spangaro A, Federico F, Ferri LA, Bellini B, Carlino M, Romano V, Palmisano A, Nicoletti V, Esposito A, Buzzatti N, Agricola E, Ancona F, Azzalini L, Montorfano M
J Invasive Cardiol 2019 Oct;31(10):278-281. Epub 2019 Sep 15 PMID: 31522139
Schneider H, Uebing A, Shore DF
J Cardiovasc Surg (Torino) 2016 Aug;57(4):557-68. Epub 2016 May 31 PMID: 27243624
Sundt TM 3rd
J Thorac Cardiovasc Surg 2010 Dec;140(6 Suppl):S41-4; discussion S45-51. doi: 10.1016/j.jtcvs.2010.08.053. PMID: 21092795
Bruckner BA, Reardon MJ
Methodist Debakey Cardiovasc J 2010 Jan-Mar;6(1):29-32. doi: 10.14797/mdcj-6-1-29. PMID: 20360656

Prognosis

Kong WKF, Bax JJ, Michelena HI, Delgado V
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):452-456. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.004. PMID: 32599025
Baglivo M, Dassati S, Krasi G, Fanelli F, Kurti D, Bonelli A, Arabia G, Fabbicatore D, Muneretto C, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):53-57. doi: 10.23750/abm.v90i10-S.8760. PMID: 31577255Free PMC Article
Schneider H, Uebing A, Shore DF
J Cardiovasc Surg (Torino) 2016 Aug;57(4):557-68. Epub 2016 May 31 PMID: 27243624
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534
Bondy CA
Curr Opin Cardiol 2008 Nov;23(6):519-26. doi: 10.1097/hco.0b013e3283129b89. PMID: 18839441Free PMC Article

Clinical prediction guides

Galian-Gay L, Pijuan-Domenech A, Cantalapiedra-Romero J, Serrano B, Goya M, Maiz N, Casellas M, Manrique S, Suàrez-Edo E, Miranda-Barrio B, Gordon Ramirez B, Teixidó-Turà G, Gutierrez-Moreno L, González-Fernández V, Dux-Santoy L, Guala A, Evangelista A, Dos-Subirà L, Rodriguez-Palomares JF, Ferreira-Gonzalez I
Heart 2023 Jul 12;109(15):1153-1158. doi: 10.1136/heartjnl-2022-322328. PMID: 37147129
Kong WKF, Bax JJ, Michelena HI, Delgado V
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):452-456. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.004. PMID: 32599025
Ancona MB, Moroni F, Chieffo A, Spangaro A, Federico F, Ferri LA, Bellini B, Carlino M, Romano V, Palmisano A, Nicoletti V, Esposito A, Buzzatti N, Agricola E, Ancona F, Azzalini L, Montorfano M
J Invasive Cardiol 2019 Oct;31(10):278-281. Epub 2019 Sep 15 PMID: 31522139
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E
J Inherit Metab Dis 2018 Jan;41(1):109-115. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0094-7. PMID: 28980096Free PMC Article
Rodrigues I, Agapito AF, de Sousa L, Oliveira JA, Branco LM, Galrinho A, Abreu J, Timóteo AT, Rosa SA, Ferreira RC
Cardiol Young 2017 Apr;27(3):518-529. Epub 2016 Dec 12 doi: 10.1017/S1047951116002560. PMID: 27938448

Recent systematic reviews

Meccanici F, de Bruijn JWC, Dommisse JS, Takkenberg JJM, van den Bosch AE, Roos-Hesselink JW
Expert Rev Cardiovasc Ther 2023 Feb;21(2):133-144. Epub 2023 Jan 30 doi: 10.1080/14779072.2023.2172403. PMID: 36688313

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