U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aortic arch aneurysm

MedGen UID:
852900
Concept ID:
C0856748
Anatomical Abnormality
Synonyms: Aneurysm, Aortic Arch; Aortic Arch Aneurysm; Aortic Arch Aneurysms; Arch Aneurysm, Aortic
SNOMED CT: Aneurysm of aortic arch (712578006)
 
HPO: HP:0005113

Definition

An abnormal localized widening (dilatation) of the aortic arch. [from HPO]

Conditions with this feature

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.
Multisystemic smooth muscle dysfunction syndrome
MedGen UID:
462551
Concept ID:
C3151201
Disease or Syndrome
Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018).
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.
Zimmermann-Laband syndrome 1
MedGen UID:
1639277
Concept ID:
C4551773
Disease or Syndrome
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). Genetic Heterogeneity of Zimmermann-Laband Syndrome ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.

Professional guidelines

PubMed

Spanos K, Nana P, von Kodolitsch Y, Behrendt CA, Kouvelos G, Panuccio G, Athanasiou T, Matsagkas M, Giannoukas A, Detter C, Kölbel T
J Endovasc Ther 2022 Oct;29(5):667-677. Epub 2021 Dec 7 doi: 10.1177/15266028211061271. PMID: 34873944
Yuri K, Kimura N, Hori D, Yamaguchi A, Adachi H
Ann Thorac Surg 2017 Dec;104(6):1915-1922. Epub 2017 Aug 25 doi: 10.1016/j.athoracsur.2017.05.062. PMID: 28847540
Nardi A, Avrahami I
J Biomech 2017 Jan 4;50:158-165. Epub 2016 Nov 12 doi: 10.1016/j.jbiomech.2016.11.038. PMID: 27876371

Recent clinical studies

Therapy

Spanos K, Nana P, von Kodolitsch Y, Behrendt CA, Kouvelos G, Panuccio G, Athanasiou T, Matsagkas M, Giannoukas A, Detter C, Kölbel T
J Endovasc Ther 2022 Oct;29(5):667-677. Epub 2021 Dec 7 doi: 10.1177/15266028211061271. PMID: 34873944
Rylski B, Schofer F, Beyersdorf F, Kondov S, Kreibich M, Schlett CL, Czerny M
Semin Thorac Cardiovasc Surg 2022 Spring;34(1):19-26. Epub 2021 Mar 11 doi: 10.1053/j.semtcvs.2021.03.001. PMID: 33713827
Yamashiro S, Kise Y, Inafuku H, Nagano T, Kuniyoshi Y
J Cardiovasc Surg (Torino) 2020 Dec;61(6):784-789. Epub 2020 Mar 17 doi: 10.23736/S0021-9509.20.11245-X. PMID: 32186170
Rommens KL, Estrera AL
Semin Thorac Cardiovasc Surg 2019 Winter;31(4):697-702. Epub 2019 Apr 11 doi: 10.1053/j.semtcvs.2019.03.011. PMID: 30980932
Bashir M, Harky A, Bilal H
Gen Thorac Cardiovasc Surg 2019 Jan;67(1):132-136. Epub 2018 May 16 doi: 10.1007/s11748-018-0940-z. PMID: 29767819

Prognosis

Koizumi S, Ishigami M, Tsubota H, Koyama T
Surg Today 2022 Feb;52(2):324-329. Epub 2021 Jul 19 doi: 10.1007/s00595-021-02337-y. PMID: 34279707
Risteski P, Radwan M, Boshkoski G, Salem R, Iavazzo A, Walther T, Esposito G
Heart Surg Forum 2020 Oct 27;23(6):E803-E808. doi: 10.1532/hsf.3235. PMID: 33234206
Yamashiro S, Kise Y, Inafuku H, Nagano T, Kuniyoshi Y
J Cardiovasc Surg (Torino) 2020 Dec;61(6):784-789. Epub 2020 Mar 17 doi: 10.23736/S0021-9509.20.11245-X. PMID: 32186170
Pérez-García CN, Olmos C, Vivas D, Ferrera C, García-Arribas D, Enríquez-Vázquez D, Carnero-Alcázar M, Maroto L, Ortega Candil A, Saiz-Pardo Sanz M, Bustos A, Ortega L, Vilacosta I
Heart 2019 Oct;105(20):1583-1589. Epub 2019 May 21 doi: 10.1136/heartjnl-2018-314499. PMID: 31113807
Miyamoto S, Takahashi S, Okahara S, Takahashi H, Katayama K, Watanabe M, Maeda K, Go S, Morita S, Kurosaki T, Herlambang B, Sueda T
Perfusion 2018 Oct;33(7):512-519. Epub 2018 Apr 11 doi: 10.1177/0267659118768149. PMID: 29635960

Clinical prediction guides

Frola E, Mortola L, Ferrero E, Ferri M, Apostolou D, Quaglino S, Maione M, Gaggiano A
Cardiovasc Intervent Radiol 2023 Dec;46(12):1674-1683. Epub 2023 Nov 17 doi: 10.1007/s00270-023-03607-7. PMID: 37978065
Rylski B, Schofer F, Beyersdorf F, Kondov S, Kreibich M, Schlett CL, Czerny M
Semin Thorac Cardiovasc Surg 2022 Spring;34(1):19-26. Epub 2021 Mar 11 doi: 10.1053/j.semtcvs.2021.03.001. PMID: 33713827
Risteski P, Radwan M, Boshkoski G, Salem R, Iavazzo A, Walther T, Esposito G
Heart Surg Forum 2020 Oct 27;23(6):E803-E808. doi: 10.1532/hsf.3235. PMID: 33234206
Yamashiro S, Kise Y, Inafuku H, Nagano T, Kuniyoshi Y
J Cardiovasc Surg (Torino) 2020 Dec;61(6):784-789. Epub 2020 Mar 17 doi: 10.23736/S0021-9509.20.11245-X. PMID: 32186170
Risteski P, El-Sayed Ahmad A, Monsefi N, Papadopoulos N, Radacki I, Herrmann E, Moritz A, Zierer A
Int J Surg 2017 Sep;45:113-117. Epub 2017 Aug 2 doi: 10.1016/j.ijsu.2017.07.105. PMID: 28778694

Recent systematic reviews

Chen CW, Hu J, Li YY, Chen GX, Zhang W, Chen XY
J Vasc Surg 2024 Jun;79(6):1510-1524. Epub 2023 Dec 18 doi: 10.1016/j.jvs.2023.12.025. PMID: 38122857
Rezaei Y, Bashir M, Mousavizadeh M, Daliri M, Aljadayel HA, Mohammed I, Hosseini S
J Card Surg 2021 Jun;36(6):1922-1934. Epub 2021 Mar 4 doi: 10.1111/jocs.15452. PMID: 33665866
Glorion M, Coscas R, McWilliams RG, Javerliat I, Goëau-Brissonniere O, Coggia M
Eur J Vasc Endovasc Surg 2016 Dec;52(6):787-800. Epub 2016 Nov 11 doi: 10.1016/j.ejvs.2016.10.001. PMID: 27843111
Barr JG, Sepehripour AH, Jarral OA, Tsipas P, Kokotsakis J, Kourliouros A, Athanasiou T
Interact Cardiovasc Thorac Surg 2016 Jul;23(1):156-62. Epub 2016 Mar 21 doi: 10.1093/icvts/ivw058. PMID: 27001673Free PMC Article
Shahverdyan R, Gawenda M, Brunkwall J
Eur J Vasc Endovasc Surg 2013 Jan;45(1):28-35. Epub 2012 Nov 2 doi: 10.1016/j.ejvs.2012.09.023. PMID: 23123094

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...