Arteriovenous malformations of the fetal brain. Prenatal ultrasound, treatment, prognosis
https://doi.org/10.24835/1607-0771-299
Abstract
A detailed literature review on arteriovenous malformation of the vein of Galen, aimed at systematizing modern knowledge on this problem, was carried out. The data analysis includes anatomical, genetic, morphological, and pathophysiological aspects, classification, clinical features, diagnosis, postnatal prognosis of mortality and neurological complications taking into account predictors of adverse outcomes. The mechanisms of decompensation caused by postnatal rearrangements of hemodynamics are described in detail.
The article also highlights the modern methods of treatment in the neonatal period.
The importance of prenatal formation of risk groups and determination of indications for the fetal surgical treatment is emphasized.
About the Authors
O. A. SamsonovaRussian Federation
Olga A. Samsonova – M.D., Cand. of Sci. (Med.), ultrasound diagnostics doctor, Clinical Hospital “MD GROUP” of the “Mother and Child Group” Companies;
Assistant of the Department of Ultrasound Diagnostics, Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation, Moscow.
https://orcid.org/0000-0002-3348-1002
O. L. Malmberg
Russian Federation
Olga L. Malmberg – M.D., Cand. of Sci. (Med.), Chief Specialist in Ultrasound Diagnostics of the Clinical Hospital “MD GROUP” of the “Mother and Child Group” Companies;
Associate Professor of the Department of Ultrasound Diagnostics, Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation, Moscow.
https://orcid.org/0009-0004-8934-9774
E. A. Gaponenko
Russian Federation
Ekaterina A. Gaponenko – M.D., ultrasound diagnostics doctor of the Clinical Hospital “MD GROUP” of the “Mother and Child Group” Companies;
Assistant of the Department of Ultrasound Diagnostics, Russian Medical Academy of Continuous Professional Education of the Ministry of Healthcare of the Russian Federation, Moscow.
https://orcid.org/0000-0003-1593-9953
F. M. Eseneeva
Russian Federation
Farida M. Eseneeva – M.D., Cand. of Sci. (Med.), Chief physician of the clinic of the Mother and Child Group Companies, Krasnogorsk; obstetrician-gynecologist, ultrasound diagnostics doctor of the Clinical Hospital “MD GROUP” of the “Mother and Child Group” Companies, Moscow.
https://orcid.org/0000-0002-0056-5656
S. A. Puyda
Russian Federation
Sergey A. Puyda – M.D., Cand. of Sci. (Med.), Associate Professor of the Department of Ultrasound Diagnostics, St.-Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation St.-Petersburg.
https://orcid.org/0009-0002-8622-4920
A. N. Lisyukov
Russian Federation
Artur N. Lisyukov – M.D., ultrasound diagnostics doctor, of the Clinical Hospital “MD GROUP” of the “Mother and Child Group” Companies; Assistant of the Department of Anatomy, Kazan State Medical UniversityUniversity of the Ministry of Healthcare of the Russian Federation, Kazan.
https://orcid.org/0000-0001-9006-7839
References
1. Brevis Nunez F., Dohna-Schwake C. Epidemiology, diagnostics, and management of vein of Galen malformation. Pediatr. Neurol. 2021; 119: 50–55. https://doi.org/10.1016/j.pediatrneurol.2021.02.007
2. Long D.M., Seljeskog E.L., Chou S.N., French L.A. Giant arteriovenous malformations of infancy and childhood. J. Neurosurg. 1974; 40 (3): 304–312. https://doi.org/10.3171/jns.1974.40.3.0304
3. Beucher G., Fossey C., Belloy F. et al. Antenatal diagnosis and management of vein of Galen aneurysm: review illustrated by a case report. Journal de Gynécologie, Obstétrique et Biologie de la Reproduction (Paris). 2005; 34: 613–619. https://doi.org/10.1016/S0368-2315(05)82889-3
4. Recinos P.F., Rahmathulla G., Pearl M. et al. Vein of Galen Malformations: Epidemiology, Clinical Presentations, Management. Neurosurg. Clin. N. Am. 2012; 23 (1): 165–177. https://doi.org/10.1016/j.nec.2011.09.006
5. Golbabaei A., Memarian S., Naemi M. et al. Cardiac Involvement in a Fetus With Vein of Galen Aneurysmal Malformation, Diagnosis, and Treatment: A Case Report. J. Pediatr. Rev. 2021; 9 (3): 255–262. https://doi.org/10.1016/j.jcma.2011.01.029
6. Long D.M., Seljeskog E.L., Chou S.N. et al. Giant arteriovenous malformations of infancy and childhood. J. Neurosurg. 1974; 40: 304–311. https://doi.org/10.3171/jns.1974.40.3.0304
7. Raybaud C.A., Strother C.M., Hald J.K. Aneurysms of the vein of Galen: embryonic considerations and anatomical features relating to the pathogenesis of the malformation. Neuroradiology. 1989; 31: 109–102. https://doi.org/10.1007/BF00698838
8. Alvarez H., Garcia Monaco R., Rodesch G. et al. Vein of Galen Aneurysmal Malformations. Neuroimaging Clin. N. Am. 2007; 17 (2): 189–206. https://doi.org/10.1016/j.nic.2007.02.005
9. Li A.H., Armstrong D., terBrugge K.G. Endovascular treatment of vein of Galen aneurysmal malformation: management strategy and 21-year experience in Toronto. J. Neurosurg. Pediatr. 2011; 7 (1): 3–10. https://doi.org/10.3171/2010.9.PEDS0956
10. Agarwal N., Guerra J.C., Gala N.B. et al. Current treatment options for cerebral arteriovenous malformations in pregnancy: a review of the literature. Wld Neurosurg. 2014; 81 (1): 83–90. https://doi.org/10.1016/j.wneu.2013.01.031
11. Beucher G., Fossey C., Belloy F. et al. Antenatal diagnosis and management of vein of Galen aneurysm: review illustrated by a case report. J. Gynecol. Obstet. Biol. Reprod. (Paris). 2005; 34: 613–619. https://doi.org/10.1016/S0368-2315(05)82889-3
12. Arustamian R.R., Lyashko E.S., Schiffman E.M. et al. Arteriovenous malformation rupture during pregnancy and the postpartum period. Russkii Meditsinskii Zhurnal. 2014; 1: 85–87. (In Russian)
13. Gupta A.K., Rao V.R., Varma D.R. et al. Evaluation, management, and long-term follow up of vein of Galen malformations. J. Neurosurg. 2006; 105: 26–33. https://doi.org/10.3171/jns.2006.105.1.26
14. Gupta A.K., Varma D.R. Vein of Galen malformations: review. Neurol. India. 2004; 52 (1): 43–53. PMID: 15069238.
15. Viñuela F., Drake C.G., Fox A.J., Pelz D.M. Giant intracranial varices secondary to high-flow arteriovenous fistulae. J. Neurosurg. 1987; 66 (2): 198–203. https://doi.org/10.3171/jns.1987.66.2.0198
16. Drapé E., Anquetil T., Larrivée B., Dubrac A. Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms. Front. Hum. Neurosci. 2022; 16: 1006115. https://doi.org/10.3389/fnhum.2022.1006115
17. Wang K., Zhao S., Liu B. et al. Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J. Med. Genet. 2018; 55 (10): 675–684. https://doi.org/10.1136/jmedgenet-2017-105224
18. Lasjaunias P.L., Chng S.M., Sachet M. et al. The management of vein of Galen aneurysmal malformations. Neurosurgery. 2006; 59 (5, Suppl. 3): S184–S194; discussion S3–S13. https://doi.org/10.1227/01.NEU.0000237445.39514.16. Erratum in: Neurosurgery. 2007; 60 (4, Suppl. 2): 393. PMID: 17053602
19. Regmi P., Amatya I. Imaging of vein of Galen malformation in late trimester. J. Patan Acad. Health Sci. 2021; 8 (3): 117–121. https://doi.org/10.3126/jpahs.v8i3.31433
20. Recinos P.F., Rahmathulla G., Pearl M. et al. Vein of Galen malformations: epidemiology, clinical presentations, management. Neurosurg. Clin. N. Am. 2012; 23 (1): 165–177. https://doi.org/10.1016/j.nec.2011.09.006
21. See A.P., Wilkins-Haug L.E., Benson C.B. et al. Percutaneous transuterine fetal cerebral embolisation to treat vein of Galen malformations at risk of urgent neonatal decompensation: study protocol for a clinical trial of safety and feasibility. BMJ Open. 2022; 12 (5): e058147. http://dx.doi.org/10.1136/bmjopen-2021-058147
22. Fayyaz A., Qureshi I.A. Vein of Galen aneurysm: antenatal diagnosis: a case report. J. Pak. Med. Assoc. 2005; 55 (10): 455–456. PMID: 16304858
23. Paladini D., Deloison B., Rossi A. et al. Vein of Galen aneurysmal malformation (VGAM) in the fetus: retrospective analysis of perinatal prognostic indicators in a two-center series of 49 cases. Ultrasound Obstet. Gynecol. 2017; 50 (2): 192–199. https://doi.org/10.1002/uog.17224
24. Wagner M.W., Vaught A.J., Poretti A. et al. Vein of galen aneurysmal malformation: prognostic markers depicted on fetal MRI. Neuroradiol J. 2015; 28 (1): 72–75. https://doi.org/10.15274/nrj-2014-10106
25. Rosenfeld J.V., Fabinyi G.C. Acute hydrocephalus in an elderly woman with an aneurysm of the vein of Galen. Neurosurgery. 1984; 15 (6): 852–854. PMID: 6514158
26. Li Tg., Zhang Yy., Nie F. et al. Diagnosis of foetal vein of galen aneurysmal malformation by ultrasound combined with magnetic resonance imaging: a case series. BMC Med. Imaging. 2020; 20: 63. https://doi.org/10.1186/s12880-020-00463-6
27. Jaimes C., Machado-Rivas F., Chen K. et al. Brain Injury in Fetuses with Vein of Galen Malformation and Nongalenic Arteriovenous Fistulas: Static Snapshot or a Portent of More? Am. J. Neuroradiol. 2022; 43 (7): 1036–1041. https://doi.org/10.3174/ajnr.A7533
28. Arko L., Lambrych M., Montaser A. et al. Fetal and Neonatal MRI Predictors of Aggressive Early Clinical Course in Vein of Galen Malformation. Am. J. Neuroradiol. 2020; 41 (6): 1105–1111. https://doi.org/10.3174/ajnr.A6585
29. D'Amico A., Tinari S., D'Antonio F. et al. Outcome of fetal Vein Galen aneurysmal malformations: a systematic review and meta-analysis. J. Matern. Fetal. Neonatal. Med. 2022; 35 (25): 5312–5317. https://doi.org/10.1080/14767058.2021.1878494
30. Turkyilmaz G., Arisoy R., Turkyilmaz S. et al. The outcome of the vein of Galen aneurysmal malformation cases diagnosed prenatally. J. Obstet. Gynaecol. 2022; 42 (5): 1137–1141. https://doi.org/10.1080/01443615.2021.2012439
31. De Rosa G., De Carolis M.P., Tempera A. et al. Outcome of Neonates with Vein of Galen Malformation Presenting with Severe Heart Failure: A Case Series. Am. J. Perinatol. 2019; 36 (2): 169–175. https://doi.org/10.1055/s-0038-1666813
32. Taffin H., Maurey H., Ozanne A. et al. Long-term outcome of vein of Galen malformation. Dev. Med. Child. Neurol. 2020; 62 (6): 729–734. https://doi.org/10.1111/dmcn.14392
33. Lecce F., Robertson F., Rennie A. et al. Cross-sectional study of a United Kingdom cohort of neonatal vein of galen malformation. Ann. Neurol. 2018; 84 (4): 547–555. https://doi.org/10.1002/ana.25316
34. Spada C., Pietrella E., Caramaschi E. et al. Heart failure caused by VGAM: a lesson for diagnosis and treatment from a case and literature review. J. Matern. Fetal. Neonatal. Med. 2021; 34 (14): 2384–2390. https://doi.org/10.1080/14767058.2019.1665013
35. Primikiris P., Hadjigeorgiou G., Tsamopoulou M. et al. Review on the current treatment status of vein of Galen malformations and future directions in research and treatment. Expert Rev. Med. Devices. 2021; 18 (10): 933–954. https://doi.org/10.1080/17434440.2021.1970527
36. De Luca C., Bevilacqua E., Badr D.A. et al. An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis. Am. J. Med. Genet. A. 2020; 182 (5): 1255–1258. https://doi.org/10.1002/ajmg.a.61535
Supplementary files
Review
For citations:
Samsonova O.A., Malmberg O.L., Gaponenko E.A., Eseneeva F.M., Puyda S.A., Lisyukov A.N. Arteriovenous malformations of the fetal brain. Prenatal ultrasound, treatment, prognosis. Ultrasound & Functional Diagnostics. 2025;31(1):14-23. (In Russ.) https://doi.org/10.24835/1607-0771-299