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Vein of Galen aneurysmal malformation(VGAM)

MedGen UID:
140912
Concept ID:
C0431420
Disease or Syndrome
Synonyms: Aneurysm of the vein of Galen; Ectasia or varix of the vein of Galen; Galen vein aneurysm; Galenic arteriovenous malformation; Vein of Galen aneurysm; Vein of Galen aneurysm malformation; Vein of Galen malformation; VGAM
SNOMED CT: Aneurysm of the vein of Galen (253194008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0030713
Monarch Initiative: MONDO:0015196
Orphanet: ORPHA1053

Definition

Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Vein of Galen aneurysmal malformation
Follow this link to review classifications for Vein of Galen aneurysmal malformation in Orphanet.

Conditions with this feature

Capillary malformation-arteriovenous malformation 2
MedGen UID:
1648502
Concept ID:
C4748670
Disease or Syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).

Professional guidelines

PubMed

Cory MJ, Durand P, Sillero R, Morin L, Savani R, Chalak L, Angelis D
Pediatr Res 2023 Jan;93(1):39-48. Epub 2022 Apr 14 doi: 10.1038/s41390-022-02064-1. PMID: 35422084
Lv X, Jiang C, Wang J
Eur J Paediatr Neurol 2020 Mar;25:29-39. Epub 2020 Jan 18 doi: 10.1016/j.ejpn.2019.12.025. PMID: 31996298
Niimi Y
Pediatr Int 2017 Mar;59(3):247-257. doi: 10.1111/ped.13159. PMID: 27601322

Recent clinical studies

Etiology

Doctor P, Ramaciotti C, Angelis D, Cory M
Cardiol Young 2024 Apr;34(4):759-764. Epub 2023 Oct 12 doi: 10.1017/S1047951123003402. PMID: 37822191
Shigematsu T, Bazil MJ, Fifi JT, Berenstein A
AJNR Am J Neuroradiol 2022 Oct;43(10):1481-1487. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7649. PMID: 36137661Free PMC Article
Gillet de Thorey A, Ozanne A, Melki J, Dumery G, Benachi A, Vivanti AJ
Prenat Diagn 2022 Aug;42(9):1073-1080. Epub 2022 Jul 15 doi: 10.1002/pd.6203. PMID: 35793434
Turkyilmaz G, Arisoy R, Turkyilmaz S, Erdogdu E, Semiz A
J Obstet Gynaecol 2022 Jul;42(5):1137-1141. Epub 2022 Jan 12 doi: 10.1080/01443615.2021.2012439. PMID: 35020567
Taffin H, Maurey H, Ozanne A, Durand P, Husson B, Knebel JF, Adamsbaum C, Deiva K, Saliou G
Dev Med Child Neurol 2020 Jun;62(6):729-734. Epub 2019 Nov 12 doi: 10.1111/dmcn.14392. PMID: 31713850

Diagnosis

Doctor P, Ramaciotti C, Angelis D, Cory M
Cardiol Young 2024 Apr;34(4):759-764. Epub 2023 Oct 12 doi: 10.1017/S1047951123003402. PMID: 37822191
Gillet de Thorey A, Ozanne A, Melki J, Dumery G, Benachi A, Vivanti AJ
Prenat Diagn 2022 Aug;42(9):1073-1080. Epub 2022 Jul 15 doi: 10.1002/pd.6203. PMID: 35793434
Mendez A, Codsi E, Gonzalez Barlatay F, Lapointe A, Raboisson MJ
J Perinatol 2022 Jan;42(1):143-148. Epub 2022 Jan 12 doi: 10.1038/s41372-021-01297-y. PMID: 35022516
Turkyilmaz G, Arisoy R, Turkyilmaz S, Erdogdu E, Semiz A
J Obstet Gynaecol 2022 Jul;42(5):1137-1141. Epub 2022 Jan 12 doi: 10.1080/01443615.2021.2012439. PMID: 35020567
Alvarez H, Garcia Monaco R, Rodesch G, Sachet M, Krings T, Lasjaunias P
Neuroimaging Clin N Am 2007 May;17(2):189-206. doi: 10.1016/j.nic.2007.02.005. PMID: 17645970

Therapy

Yan J, Wen J, Gopaul R, Zhang CY, Xiao SW
J Neurosurg 2015 Oct;123(4):872-90. Epub 2015 Jul 31 doi: 10.3171/2014.12.JNS141249. PMID: 26230476
Meila D, Hannak R, Feldkamp A, Schlunz-Hendann M, Mangold A, Jacobs C, Papke K, Brassel F
Neuroradiology 2012 Jan;54(1):51-9. Epub 2011 Apr 1 doi: 10.1007/s00234-011-0860-4. PMID: 21455720
McSweeney N, Brew S, Bhate S, Cox T, Roebuck DJ, Ganesan V
Arch Dis Child 2010 Nov;95(11):903-9. Epub 2010 Jul 6 doi: 10.1136/adc.2009.177584. PMID: 20605862
Lasjaunias PL, Chng SM, Sachet M, Alvarez H, Rodesch G, Garcia-Monaco R
Neurosurgery 2006 Nov;59(5 Suppl 3):S184-94; discussion S3-13. doi: 10.1227/01.NEU.0000237445.39514.16. PMID: 17053602
Kuzeyli K, Cakir E, Karaarslan G, Ahmetoğlu A, Peksoylu B, Yazar U, Baykal S
J Clin Neurosci 2004 May;11(4):439-42. doi: 10.1016/j.jocn.2003.03.008. PMID: 15080969

Prognosis

Shigematsu T, Bazil MJ, Fifi JT, Berenstein A
AJNR Am J Neuroradiol 2022 Oct;43(10):1481-1487. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7649. PMID: 36137661Free PMC Article
Gillet de Thorey A, Ozanne A, Melki J, Dumery G, Benachi A, Vivanti AJ
Prenat Diagn 2022 Aug;42(9):1073-1080. Epub 2022 Jul 15 doi: 10.1002/pd.6203. PMID: 35793434
Turkyilmaz G, Arisoy R, Turkyilmaz S, Erdogdu E, Semiz A
J Obstet Gynaecol 2022 Jul;42(5):1137-1141. Epub 2022 Jan 12 doi: 10.1080/01443615.2021.2012439. PMID: 35020567
Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B27-B29. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.181. PMID: 33168212
Taffin H, Maurey H, Ozanne A, Durand P, Husson B, Knebel JF, Adamsbaum C, Deiva K, Saliou G
Dev Med Child Neurol 2020 Jun;62(6):729-734. Epub 2019 Nov 12 doi: 10.1111/dmcn.14392. PMID: 31713850

Clinical prediction guides

Shigematsu T, Bazil MJ, Fifi JT, Berenstein A
AJNR Am J Neuroradiol 2022 Oct;43(10):1481-1487. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7649. PMID: 36137661Free PMC Article
Gillet de Thorey A, Ozanne A, Melki J, Dumery G, Benachi A, Vivanti AJ
Prenat Diagn 2022 Aug;42(9):1073-1080. Epub 2022 Jul 15 doi: 10.1002/pd.6203. PMID: 35793434
Turkyilmaz G, Arisoy R, Turkyilmaz S, Erdogdu E, Semiz A
J Obstet Gynaecol 2022 Jul;42(5):1137-1141. Epub 2022 Jan 12 doi: 10.1080/01443615.2021.2012439. PMID: 35020567
Taffin H, Maurey H, Ozanne A, Durand P, Husson B, Knebel JF, Adamsbaum C, Deiva K, Saliou G
Dev Med Child Neurol 2020 Jun;62(6):729-734. Epub 2019 Nov 12 doi: 10.1111/dmcn.14392. PMID: 31713850
Berenstein A, Paramasivam S, Sorscher M, Molofsky W, Meila D, Ghatan S
Neurosurgery 2019 Feb 1;84(2):469-478. doi: 10.1093/neuros/nyy100. PMID: 29860355

Recent systematic reviews

Yan J, Wen J, Gopaul R, Zhang CY, Xiao SW
J Neurosurg 2015 Oct;123(4):872-90. Epub 2015 Jul 31 doi: 10.3171/2014.12.JNS141249. PMID: 26230476
Xu DS, Usman AA, Hurley MC, Eddleman CS, Bendok BR
Neurosurgery 2010 Dec;67(6):E1845-51; discussion 1851. doi: 10.1227/NEU.0b013e3181fa00d8. PMID: 21107153

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