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Familial abdominal aortic aneurysm

MedGen UID:
896628
•Concept ID:
C4275172
•
Disease or Syndrome
Synonym: ANEURYSM, ABDOMINAL AORTIC
SNOMED CT: Familial abdominal aortic aneurysm (715364001)
 
Monarch Initiative: MONDO:0007031
OMIM® Phenotypic series: PS100070
Orphanet: ORPHA86

Definition

Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). Genetic Heterogeneity of Abdominal Aortic Aneurysm Mapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (609782) on chromosome 4q31; AAA3 (611891) on chromosome 9p21; and AAA4 (614375) on chromosome 12q13. [from OMIM]

Professional guidelines

PubMed

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Writing Committee Members, Isselbacher EM, Preventza O, Hamilton Black Iii J, 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, Jones WS, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Ross EG, Schermerhorn ML, Times SS, Tseng EE, Wang GJ, Woo YJ
J Am Coll Cardiol 2022 Dec 13;80(24):e223-e393. Epub 2022 Nov 2 doi: 10.1016/j.jacc.2022.08.004. PMID: 36334952Free PMC Article
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
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
The Society for Vascular Surgery practice guidelines on the care of patients with an abdominal aortic aneurysm.
Chaikof EL, Dalman RL, Eskandari MK, Jackson BM, Lee WA, Mansour MA, Mastracci TM, Mell M, Murad MH, Nguyen LL, Oderich GS, Patel MS, Schermerhorn ML, Starnes BW
J Vasc Surg 2018 Jan;67(1):2-77.e2. doi: 10.1016/j.jvs.2017.10.044. PMID: 29268916

Curated

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

Recent clinical studies

Etiology

Outcomes of familial abdominal aortic aneurysm repair in the Vascular Quality Initiative.
Ryer EJ, Garvin RP, Zhou Y, Sun H, Pham A, Orlova K, Elmore JR
J Vasc Surg 2019 Mar;69(3):717-727.e1. Epub 2018 Jul 29 doi: 10.1016/j.jvs.2018.04.070. PMID: 30064833
What a vascular surgeon should know about familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Verhagen HJ
Eur J Vasc Endovasc Surg 2015 Aug;50(2):137-8. Epub 2015 Apr 19 doi: 10.1016/j.ejvs.2015.03.036. PMID: 25902934
Lower atherosclerotic burden in familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Valentijn TM, Stolker RJ, Majoor-Krakauer D, Verhagen HJ, Rouwet EV
J Vasc Surg 2014 Mar;59(3):589-93. Epub 2013 Nov 14 doi: 10.1016/j.jvs.2013.08.096. PMID: 24239112
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982
Familial abdominal aortic aneurysm: a systematic review of a genetic background.
van Vlijmen-van Keulen CJ, Pals G, Rauwerda JA
Eur J Vasc Endovasc Surg 2002 Aug;24(2):105-16. doi: 10.1053/ejvs.2002.1692. PMID: 12389231

Diagnosis

What a vascular surgeon should know about familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Verhagen HJ
Eur J Vasc Endovasc Surg 2015 Aug;50(2):137-8. Epub 2015 Apr 19 doi: 10.1016/j.ejvs.2015.03.036. PMID: 25902934
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Therapy

Outcomes of familial abdominal aortic aneurysm repair in the Vascular Quality Initiative.
Ryer EJ, Garvin RP, Zhou Y, Sun H, Pham A, Orlova K, Elmore JR
J Vasc Surg 2019 Mar;69(3):717-727.e1. Epub 2018 Jul 29 doi: 10.1016/j.jvs.2018.04.070. PMID: 30064833
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Blankensteijn JD, Böckler D, Stolker RJ, Verhagen HJM
Eur J Vasc Endovasc Surg 2017 Aug;54(2):142-149. Epub 2017 Jun 2 doi: 10.1016/j.ejvs.2017.04.018. PMID: 28579278
What a vascular surgeon should know about familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Verhagen HJ
Eur J Vasc Endovasc Surg 2015 Aug;50(2):137-8. Epub 2015 Apr 19 doi: 10.1016/j.ejvs.2015.03.036. PMID: 25902934
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982

Prognosis

What a vascular surgeon should know about familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Verhagen HJ
Eur J Vasc Endovasc Surg 2015 Aug;50(2):137-8. Epub 2015 Apr 19 doi: 10.1016/j.ejvs.2015.03.036. PMID: 25902934

Clinical prediction guides

Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Blankensteijn JD, Böckler D, Stolker RJ, Verhagen HJM
Eur J Vasc Endovasc Surg 2017 Aug;54(2):142-149. Epub 2017 Jun 2 doi: 10.1016/j.ejvs.2017.04.018. PMID: 28579278
What a vascular surgeon should know about familial abdominal aortic aneurysm.
van de Luijtgaarden KM, Verhagen HJ
Eur J Vasc Endovasc Surg 2015 Aug;50(2):137-8. Epub 2015 Apr 19 doi: 10.1016/j.ejvs.2015.03.036. PMID: 25902934
Familial abdominal aortic aneurysm is associated with more complications after endovascular aneurysm repair.
van de Luijtgaarden KM, Bastos Gonçalves F, Hoeks SE, Majoor-Krakauer D, Rouwet EV, Stolker RJ, Verhagen HJ
J Vasc Surg 2014 Feb;59(2):275-82. Epub 2013 Oct 17 doi: 10.1016/j.jvs.2013.08.029. PMID: 24139982
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Shibamura H, Olson JM, van Vlijmen-Van Keulen C, Buxbaum SG, Dudek DM, Tromp G, Ogata T, Skunca M, Sakalihasan N, Pals G, Limet R, MacKean GL, Defawe O, Verloes A, Arthur C, Lossing AG, Burnett M, Sueda T, Kuivaniemi H
Circulation 2004 May 4;109(17):2103-8. Epub 2004 Apr 19 doi: 10.1161/01.CIR.0000127857.77161.A1. PMID: 15096456
Familial abdominal aortic aneurysm: prevalence and implications for screening.
Adams DC, Tulloh BR, Galloway SW, Shaw E, Tulloh AJ, Poskitt KR
Eur J Vasc Surg 1993 Nov;7(6):709-12. doi: 10.1016/s0950-821x(05)80721-2. PMID: 8270076

Recent systematic reviews

Familial abdominal aortic aneurysm: a systematic review of a genetic background.
van Vlijmen-van Keulen CJ, Pals G, Rauwerda JA
Eur J Vasc Endovasc Surg 2002 Aug;24(2):105-16. doi: 10.1053/ejvs.2002.1692. PMID: 12389231

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.

    Curated

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

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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