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Abdominal aortic aneurysm(AAA)

MedGen UID:
56524
Concept ID:
C0162871
Anatomical Abnormality
Synonym: Dilatation of abdominal aorta
SNOMED CT: Abdominal aortic aneurysm (233985008); AAA - Abdominal aortic aneurysm (233985008)
 
HPO: HP:0005112
Monarch Initiative: MONDO:0005350
OMIM®: 100070

Definition

An abnormal localized widening (dilatation) of the abdominal aorta. [from HPO]

Conditions with this feature

Aortic aneurysm, familial abdominal, 1
MedGen UID:
339961
Concept ID:
C1853365
Disease or Syndrome
Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aortic aneurysm, familial thoracic 8
MedGen UID:
815843
Concept ID:
C3809513
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.
Aortic aneurysm, familial thoracic 10
MedGen UID:
924785
Concept ID:
C4284414
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
Seckel syndrome 10
MedGen UID:
934614
Concept ID:
C4310647
Disease or Syndrome
Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Professional guidelines

PubMed

Golledge J, Thanigaimani S, Powell JT, Tsao PS
Eur Heart J 2023 Aug 1;44(29):2682-2697. doi: 10.1093/eurheartj/ehad386. PMID: 37387260Free PMC Article
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Curated

UK NICE Guideline NG156, Abdominal aortic aneurysm: diagnosis and management, 2020

Recent clinical studies

Etiology

Golledge J, Thanigaimani S, Powell JT, Tsao PS
Eur Heart J 2023 Aug 1;44(29):2682-2697. doi: 10.1093/eurheartj/ehad386. PMID: 37387260Free PMC Article
Baman JR, Eskandari MK
JAMA 2022 Dec 13;328(22):2280. doi: 10.1001/jama.2022.18638. PMID: 36511924
Haque K, Bhargava P
Am Fam Physician 2022 Aug;106(2):165-172. PMID: 35977132
Clancy K, Wong J, Spicher A
Perm J 2019;23 Epub 2019 Oct 25 doi: 10.7812/TPP/18.218. PMID: 31926569Free PMC Article
Sakalihasan N, Limet R, Defawe OD
Lancet 2005 Apr 30-May 6;365(9470):1577-89. doi: 10.1016/S0140-6736(05)66459-8. PMID: 15866312

Diagnosis

Golledge J, Thanigaimani S, Powell JT, Tsao PS
Eur Heart J 2023 Aug 1;44(29):2682-2697. doi: 10.1093/eurheartj/ehad386. PMID: 37387260Free PMC Article
Baman JR, Eskandari MK
JAMA 2022 Dec 13;328(22):2280. doi: 10.1001/jama.2022.18638. PMID: 36511924
Haque K, Bhargava P
Am Fam Physician 2022 Aug;106(2):165-172. PMID: 35977132
Clancy K, Wong J, Spicher A
Perm J 2019;23 Epub 2019 Oct 25 doi: 10.7812/TPP/18.218. PMID: 31926569Free PMC Article
Sakalihasan N, Limet R, Defawe OD
Lancet 2005 Apr 30-May 6;365(9470):1577-89. doi: 10.1016/S0140-6736(05)66459-8. PMID: 15866312

Therapy

Antoniou GA, Antoniou SA, Torella F
Eur J Vasc Endovasc Surg 2020 Mar;59(3):385-397. Epub 2019 Dec 30 doi: 10.1016/j.ejvs.2019.11.030. PMID: 31899100
Raffort J, Hassen-Khodja R, Jean-Baptiste E, Lareyre F
J Vasc Surg 2020 Mar;71(3):1056-1062. Epub 2019 Nov 11 doi: 10.1016/j.jvs.2019.08.270. PMID: 31727461
Rowbotham SE, Krishna SM, Moran CS, Golledge J
Curr Drug Targets 2018;19(11):1241-1246. doi: 10.2174/1389450119666171227224655. PMID: 29284388
Takagi H, Umemoto T; Alice (All-Literature Investigation of Cardiovascular Evidence) group
Int Angiol 2017 Feb;36(1):21-30. Epub 2015 Nov 23 doi: 10.23736/S0392-9590.16.03618-X. PMID: 26603433
Hirsch AT, Haskal ZJ, Hertzer NR, Bakal CW, Creager MA, Halperin JL, Hiratzka LF, Murphy WR, Olin JW, Puschett JB, Rosenfield KA, Sacks D, Stanley JC, Taylor LM Jr, White CJ, White J, White RA, Antman EM, Smith SC Jr, Adams CD, Anderson JL, Faxon DP, Fuster V, Gibbons RJ, Hunt SA, Jacobs AK, Nishimura R, Ornato JP, Page RL, Riegel B; American Association for Vascular Surgery; Society for Vascular Surgery; Society for Cardiovascular Angiography and Interventions; Society for Vascular Medicine and Biology; Society of Interventional Radiology; ACC/AHA Task Force on Practice Guidelines Writing Committee to Develop Guidelines for the Management of Patients With Peripheral Arterial Disease; American Association of Cardiovascular and Pulmonary Rehabilitation; National Heart, Lung, and Blood Institute; Society for Vascular Nursing; TransAtlantic Inter-Society Consensus; Vascular Disease Foundation
Circulation 2006 Mar 21;113(11):e463-654. doi: 10.1161/CIRCULATIONAHA.106.174526. PMID: 16549646

Prognosis

Yap ZJ, Sharif M, Bashir M
J Card Surg 2021 Apr;36(4):1520-1530. Epub 2021 Feb 18 doi: 10.1111/jocs.15440. PMID: 33604952
Mordi IR, Forsythe RO, Gellatly C, Iskandar Z, McBride OM, Saratzis A, Chalmers R, Chin C, Bown MJ, Newby DE, Lang CC, Huang JTJ, Choy AM
J Am Heart Assoc 2019 Oct 15;8(20):e013743. Epub 2019 Oct 9 doi: 10.1161/JAHA.119.013743. PMID: 31595818Free PMC Article
Patel R, Sweeting MJ, Powell JT, Greenhalgh RM; EVAR trial investigators
Lancet 2016 Nov 12;388(10058):2366-2374. Epub 2016 Oct 12 doi: 10.1016/S0140-6736(16)31135-7. PMID: 27743617
Shah AD, Langenberg C, Rapsomaniki E, Denaxas S, Pujades-Rodriguez M, Gale CP, Deanfield J, Smeeth L, Timmis A, Hemingway H
Lancet Diabetes Endocrinol 2015 Feb;3(2):105-13. Epub 2014 Nov 11 doi: 10.1016/S2213-8587(14)70219-0. PMID: 25466521Free PMC Article
Prisant LM, Mondy JS 3rd
J Clin Hypertens (Greenwich) 2004 Feb;6(2):85-9. doi: 10.1111/j.1524-6175.2004.02838.x. PMID: 14872146Free PMC Article

Clinical prediction guides

Li X, Cokkinos D, Gadani S, Rafailidis V, Aschwanden M, Levitin A, Szaflarski D, Kirksey L, Staub D, Partovi S
Int J Cardiovasc Imaging 2022 Aug;38(8):1711-1721. Epub 2022 Feb 23 doi: 10.1007/s10554-022-02558-3. PMID: 35195805
Raffort J, Adam C, Carrier M, Ballaith A, Coscas R, Jean-Baptiste E, Hassen-Khodja R, Chakfé N, Lareyre F
J Vasc Surg 2020 Jul;72(1):321-333.e1. Epub 2020 Feb 21 doi: 10.1016/j.jvs.2019.12.026. PMID: 32093909
Roddy SP
J Vasc Surg 2017 May;65(5):1537. doi: 10.1016/j.jvs.2017.02.021. PMID: 28434598
Azhar B, Patel SR, Holt PJ, Hinchliffe RJ, Thompson MM, Karthikesalingam A
J Endovasc Ther 2014 Aug;21(4):568-75. doi: 10.1583/13-4626MR.1. PMID: 25101588
Moris DN, Georgopoulos SE
Int Angiol 2013 Jun;32(3):266-80. PMID: 23711679

Recent systematic reviews

Patil A, Conley M, Paulson C, Pompoco C, Wallace R, Swiston C, Ritch R, Curtin K, Wirostko B
Acta Ophthalmol 2023 Aug;101(5):478-484. Epub 2022 Dec 8 doi: 10.1111/aos.15307. PMID: 36482872
Zhang Y, Xin L, Xiang M, Shang C, Wang Y, Wang Y, Cui X, Lu Y
Biomed Pharmacother 2022 Jan;145:112423. Epub 2021 Nov 17 doi: 10.1016/j.biopha.2021.112423. PMID: 34800783
Sangiorgio G, Biondi A, Basile F, Vacante M
Minerva Chir 2020 Jun;75(3):169-172. doi: 10.23736/S0026-4733.20.08266-8. PMID: 32550726
Antoniou GA, Antoniou SA, Torella F
Eur J Vasc Endovasc Surg 2020 Mar;59(3):385-397. Epub 2019 Dec 30 doi: 10.1016/j.ejvs.2019.11.030. PMID: 31899100
Altobelli E, Rapacchietta L, Profeta VF, Fagnano R
Int J Environ Res Public Health 2018 Dec 10;15(12) doi: 10.3390/ijerph15122805. PMID: 30544688Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2020
      UK NICE Guideline NG156, Abdominal aortic aneurysm: diagnosis and management, 2020

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