Raras
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Malformação aneurismática da veia de Galeno
ORPHA:1053CID-10 · Q28.2CID-11 · LA90.20DOENÇA RARA

O aneurisma da veia de Galeno é uma forma rara de malformação arteriovenosa na qual o precursor embrionário da veia de Galeno, uma veia na base do cérebro, se dilata, fazendo com que muito sangue corra para o coração. Isso pode levar à insuficiência cardíaca rápida. Outras características podem incluir aumento do perímetro cefálico resultante de hidrocefalia, veias incomumente proeminentes na face e no couro cabeludo, atraso no desenvolvimento, dor de cabeça persistente e outros achados neurológicos. O aneurisma da veia de Galeno é frequentemente reconhecido em uma ultrassonografia no final da gravidez. Em outros casos, é diagnosticado após o nascimento. Embora a causa exata permaneça desconhecida, esta condição parece resultar de um defeito no desenvolvimento fetal inicial. O tratamento visa diminuir o fluxo sanguíneo através da malformação e, ao mesmo tempo, maximizar o suprimento de sangue ao cérebro. São preferidas técnicas cirúrgicas minimamente invasivas, como a embolização endovascular.

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Introdução

O que você precisa saber de cara

📋

O aneurisma da veia de Galeno é uma forma rara de malformação arteriovenosa na qual o precursor embrionário da veia de Galeno, uma veia na base do cérebro, se dilata, fazendo com que muito sangue corra para o coração. Isso pode levar à insuficiência cardíaca rápida. Outras características podem incluir aumento do perímetro cefálico resultante de hidrocefalia, veias incomumente proeminentes na face e no couro cabeludo, atraso no desenvolvimento, dor de cabeça persistente e outros achados neurológicos. O aneurisma da veia de Galeno é frequentemente reconhecido em uma ultrassonografia no final da gravidez. Em outros casos, é diagnosticado após o nascimento. Embora a causa exata permaneça desconhecida, esta condição parece resultar de um defeito no desenvolvimento fetal inicial. O tratamento visa diminuir o fluxo sanguíneo através da malformação e, ao mesmo tempo, maximizar o suprimento de sangue ao cérebro. São preferidas técnicas cirúrgicas minimamente invasivas, como a embolização endovascular.

Pesquisas ativas
2 ensaios
4 total registrados no ClinicalTrials.gov
Publicações científicas
304 artigos
Último publicado: 2026 Apr 6

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura parcialScore: 40%
Triagem neonatal (Fase 5)Centros em: PA, PE, BA, CE, PB +10CID-10: Q28.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Anormalidade da vasculatura cerebral
Muito frequente (99-80%)
55%prev.
Dilatação
Frequente (79-30%)
55%prev.
Fístula arteriovenosa periférica
Frequente (79-30%)
3sintomas
Muito frequente (1)
Frequente (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 3 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da vasculatura cerebralAbnormality of the cerebral vasculature
Muito frequente (99-80%)90%
DilataçãoDilatation
Frequente (79-30%)55%
Fístula arteriovenosa periféricaPeripheral arteriovenous fistula
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico304PubMed
Últimos 10 anos176publicações
Pico202527 papers
Linha do tempo
2026Hoje · 2026🧪 2014Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

EPHB4Ephrin type-B receptor 4Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, an

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
EPH-ephrin mediated repulsion of cellsEPH-Ephrin signalingEphrin signaling
MECANISMO DE DOENÇA

Lymphatic malformation 7

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
133.8 TPM
Cervix Endocervix
110.2 TPM
Baço
84.6 TPM
Ovário
83.5 TPM
Fallopian Tube
73.2 TPM
OUTRAS DOENÇAS (5)
lymphatic malformation 7capillary malformation-arteriovenous malformation 2EPHB4-related lymphatic-related hydrops fetalisvein of Galen aneurysm
HGNC:3395UniProt:P54760

Variantes genéticas (ClinVar)

235 variantes patogênicas registradas no ClinVar.

🧬 EPHB4: NM_004444.5(EPHB4):c.1849del (p.Ile617fs) ()
🧬 EPHB4: NM_004444.5(EPHB4):c.2269_2272del (p.Ser757fs) ()
🧬 EPHB4: NM_004444.5(EPHB4):c.2679-1G>C ()
🧬 EPHB4: NM_004444.5(EPHB4):c.456_457del (p.Ala153fs) ()
🧬 EPHB4: NM_004444.5(EPHB4):c.1756+1G>A ()
Ver todas no ClinVar

Vias biológicas (Reactome)

4 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Malformação aneurismática da veia de Galeno

Centros de Referência SUS

24 centros habilitados pelo SUS para Malformação aneurismática da veia de Galeno

Centros para Malformação aneurismática da veia de Galeno

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

4 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥇Melhor nível de evidência: Revisão sistemática
Timeline de publicações
177 papers (10 anos)
#1

From fetal cardiac axis deviation to postnatal neurovascular diagnosis: road to a diagnosis of vein of Galen malformation.

BMJ case reports2026 Jan 30
#2

Fetal Vein of Galen Malformation-Reply.

JAMA2026 Jan 27
#3

Fetal Vein of Galen Malformation.

JAMA2026 Jan 27
#4

Endoscopic Third Ventriculostomy for Adjunctive Management of Hydrocephalus Associated With Previously Embolized Vein of Galen Malformations.

Neurosurgery2026 Mar 12

Hydrocephalus is a comorbid condition in patients with vein of Galen malformations (VOGMs), and its management is complicated by venous hypertension, elevating surgical risk. Endoscopic third ventriculostomy (ETV) is commonly used for cerebrospinal fluid (CSF) diversion in children, but there are limited available data on its efficacy and safety for patients with VOGM. We aimed to review our experiences with ETV across 2 high-volume centers for VOGM patients with hydrocephalus. A two-center retrospective review identified all patients with VOGM who underwent ETV. Demographics, clinical presentation, procedural history, and outcomes were reviewed. ETV success scores were calculated. Twelve patients with VOGM underwent ETV; 66.7% was male, with a median age of 6 months. Seven (58.3%) were still undergoing VOGM embolization before ETV, and 4 had a history of hydrocephalus with acute-on-chronic exacerbation. Eight patients (66.7%) presented with obstructive hydrocephalus because of aqueductal stenosis (58.3%) and with intraventricular hemorrhage without CSF pathway stenosis (8.3%). Three (25.0%) required external ventricular drain placement or fontanelle taps pre-ETV, and choroid plexus cauterization was performed in 4 patients (33.3%). Technical success of ETV was achieved in all cases. One patient experienced venous bleeding at the ventriculostomy site. Postoperative complications occurred in 2 patients: one with transient truncal ataxia and the other with seizure activity, all of which resolved by discharge. At most recent follow-up, 10 patients (83.3%) have minimal residual arteriovenous shunting of their VOGM. The mean ETV success score was 60.8, and 11 patients (91.7%) experienced clinical improvement with ETV patency at the 6-month follow-up. One patient required conversion to a ventriculoperitoneal shunt because of lack of improvement at 6 months. This largest-to-date series on VOGM-associated hydrocephalus treated with ETV demonstrates high safety and efficacy across 2 independent high-volume centers. In patients with VOGM demonstrating clinical deterioration secondary to hydrocephalus, ETV with possible choroid plexus cauterization is a viable CSF diversion strategy to consider.

#5

Vein of Galen Malformation with Pial Arteriovenous Fistula in a 12-month-old Child.

Asian journal of neurosurgery2026 Mar

Pial arteriovenous fistulas are extremely rare vascular malformations of the brain (accounting for approximately 1.6% of vascular malformations of the brain) and are classified as Galenic and non-Galenic pial fistulas. We present a rare association of a mural-type vein of Galen malformation with a pial fistula involving the precentral branch of the right middle cerebral artery (MCA) in a 12-month-old infant. A 12-month-old preterm male infant, born vaginally with a delayed cry (birth weight 1.2 kg), presented with progressive macrocephaly, recurrent upper respiratory tract infections, developmental delay, and a history of seizures. Neurologically, the child was intact with no focal deficits. He was the firstborn child of a non-consanguineous marriage; maternal antenatal history was notable for polyhydramnios and fetal cardiomegaly detected on antenatal ultrasound. Antenatal scans at 26 and 28 weeks revealed aneurysmal dilation of the vein of Galen. Postnatal transfontanelle ultrasound showed enlarged lateral and third ventricles with a midline cystic lesion exhibiting turbulent flow, suggestive of a high-flow arteriovenous shunt. At 12 months of age, multidetector computed tomography (MDCT)) identified a 37 × 15 mm lobulated soft tissue density in the perimesencephalic/suprasellar region with ventriculomegaly. MRI of the brain confirmed a 35 × 19 × 21 mm flow void in the region of the vein of Galen associated with hydrocephalus, periventricular ooze, and cerebral atrophy. Digital subtraction angiography revealed a mural-type vein of Galen malformation fed by the right posterior choroidal artery, draining into the torcula. Additionally, a separate pial arteriovenous fistula was identified, supplied by the precentral branch of the right MCA, with cortical venous drainage into the superior sagittal sinus. Left sigmoid sinus hypoplasia with redirected venous outflow into the left superior petrosal sinus and cavernous system was noted. Mural-type vein of Galen malformation with concurrent pial arteriovenous fistula. The child was taken up for endovascular embolization. The vein of Galen malformation was embolized using 70% N N-butyl cyanoacrylate (NBCA). Subsequently, transarterial embolization of the right MCA pial fistula was done using coils and Onyx liquid embolic agent in the same sitting. Post-embolization, complete closure of both fistulas was noted. Post-treatment, CT revealed closure of fistulas with no fresh parenchymal abnormality. The child was discharged on postoperative day 6 without any focal deficit. At 3-month follow-up, the patient remained neurologically stable without new deficits, and follow-up MRI was planned.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC175 artigos no totalmostrando 167

2026

Endoscopic Third Ventriculostomy for Adjunctive Management of Hydrocephalus Associated With Previously Embolized Vein of Galen Malformations.

Neurosurgery
2026

Vein of Galen Malformation with Pial Arteriovenous Fistula in a 12-month-old Child.

Asian journal of neurosurgery
2025

A Combination Of Vein Of Galen Aneurysmal Malformation And Bovine Aortic Arch In Newborn: A Case Report.

JNMA; journal of the Nepal Medical Association
2026

Safety profile of DMSO-based liquid embolic agents for neurointerventional procedures in neonates, infants, and toddlers: a cohort study.

AJNR. American journal of neuroradiology
2026

Vein of Galen Aneurysmal Malformation: A Case Report With Insights Into Radiological Diagnosis Using Ultrasonography and Magnetic Resonance Imaging.

Cureus
2026

Endoscopic Third Ventriculostomy With Choroid Plexus Cauterization Application in the Management of Hydrocephalus in Previously Embolized Vein of Galen Malformations: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2026

A scoping review of variations in cerebral Doppler venous waveforms in infants.

NeuroImage
2026

From fetal cardiac axis deviation to postnatal neurovascular diagnosis: road to a diagnosis of vein of Galen malformation.

BMJ case reports
2026

The Aortic Flow Reversal Ratio: A Quantitative Adjunct to the Bicêtre Score in Vein of Galen Malformation.

Journal of clinical medicine
2025

Neuro-interventional Radiology in Paediatric Patients: An Update.

Cardiovascular and interventional radiology
2026

Fetal Vein of Galen Malformation-Reply.

JAMA
2026

Fetal Vein of Galen Malformation.

JAMA
2025

Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.

bioRxiv : the preprint server for biology
2025

Vein of Galen Malformation-Experience of the Last 13 Years in a Reference Center from South-Eastern Europe.

Life (Basel, Switzerland)
2025

Spontaneous thrombosis of vein of Galen malformation.

BMJ case reports
2025

Vertical Gaze Palsy in Medial Thalamic Infarction Associated with Vein of Galen Malformation: A Case Report.

Asian journal of neurosurgery
2025

Prediction of Neonatal Intensive Care Unit Mortality in Fetuses and Neonates with Vein of Galen Malformation.

AJNR. American journal of neuroradiology
2025

In Utero Embolization for Fetal Vein of Galen Malformation.

JAMA
2025

Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report.

SAGE open medical case reports
2025

Clinical outcomes and quality of life after endovascular embolization for vein of Galen aneurysmal malformation (VGAM): a study from a low-and middle-income country.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Letter: Modulation of PI3K and MEK Signaling Reverse Vein of Galen Malformation.

Neurosurgery
2025

Vein of Galen malformation in a newborn: clinical presentation and imaging insights.

BMJ case reports
2025

4D flow MRI for noninvasive monitoring of high-flow vascular malformations in neonates and infants: A feasibility study.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2025

Axillary Artery Access for Neuroendovascular Procedures in Infants: Where to Go When Femoral Puncture Fails?

Neurointervention
2025

Outcome of a Late Preterm Infant With Prenatally Diagnosed Vein of Galen Malformation.

NeoReviews
2025

Vein of Galen Malformation Detected by Newborn Cranial Ultrasound Screen with Conservative Following Up: Case Report.

Journal of medical ultrasound
2025

Association of Disease Severity and Cerebral Interventional Complications With Long-Term Neurodevelopmental Outcome in Neonates With Vein of Galen Malformation.

Pediatric neurology
2025

Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.

Journal of clinical medicine
2025

Mediolateral Diameter of the Falcine Sinus as a Predictor of Clinical Outcomes in Fetal Vein of Galen Malformations.

Stroke
2025

Routine 36-week scan: diagnosis of fetal abnormalities.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Ultrasound Super-Resolution Imaging of Neonatal Cerebral Vascular Reorganization.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Evaluation of adherence to the Preferred Reporting of CasE Series in Surgery (PROCESS) 2020 guideline in case series describing endovascular management of vein of Galen malformation demonstrates suboptimal reporting practices.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Ultrasound-guided transuterine coil embolization of a Vein of Galen malformation.

Clinical neurology and neurosurgery
2025

Correspondence on 'Transumbilical access for neonatal vein of Galen malformation and pial arteriovenous fistula embolization'.

Journal of neurointerventional surgery
2025

Cardiovascular profile score (CVPS) and selected cardiac parameters in fetuses with Vein of Galen malformation.

Ginekologia polska
2024

[Use of ultrasound in vein of Galen malformation].

Revista medica del Instituto Mexicano del Seguro Social
2024

Neurovascular Malformations in the Fetus and Neonate.

Neuroimaging clinics of North America
2025

Transumbilical access for neonatal vein of Galen malformation and pial arteriovenous fistula embolization.

Journal of neurointerventional surgery
2024

Adjunctive venous sinus stenting in transvenous embolization of vein of Galen malformations.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2024

Neonatal vein of Galen malformation: A rare cause of high-output heart failure.

Journal of paediatrics and child health
2024

Reversal of Fetal Compromise Following In Utero Treatment of Vein of Galen Malformation Using Glue.

Prenatal diagnosis
2024

Intracranial vein of Galen malformation and its management: A case report.

Medicine international
2024

Intracranial cerebrovascular lesions on T2-weighted magnetic resonance imaging.

Journal of clinical imaging science
2024

Cerebral Doppler imaging in neonates: A guide for clinical application and diagnosis.

Developmental medicine and child neurology
2024

Systemic venous anomalies in a child with a vein of Galen.

Annals of pediatric cardiology
2024

Literature review and case report: Rare case of successful prenatal detection of Vein of Galen Malformation (VGAM).

European journal of obstetrics &amp; gynecology and reproductive biology: X
2024

Comparing Vascular Morphology and Hemodynamics in Patients with Vein of Galen Malformations Using Intracranial 4D Flow MRI.

AJNR. American journal of neuroradiology
2024

Vein of Galen Malformations.

Neurosurgery clinics of North America
2024

Endoluminal Biopsy for Vein of Galen Malformation.

Neurosurgery
2024

Multidisciplinary care of fetal vein of Galen arteriovenous malformation diagnosed via Doppler ultrasound and magnetic resonance imaging: A case report.

Case reports in women's health
2024

Chemical abscess post vein of Galen aneurysmal malformation embolisation with ethylene vinyl alcohol copolymer.

SA journal of radiology
2024

Spontaneous thrombosis of type II vein of Galen aneurysmal malformation: a case report.

Folia medica
2024

Vein of Galen aneurysmal malformation associated with brain abscess: A computed tomography case report.

Radiology case reports
2023

Vein of Galen Aneurysmal Malformation: A Case Report and Literature Review.

Cureus
2024

Prenatal treatment of a vein of Galen malformation by embolization and 1-year follow-up.

American journal of obstetrics and gynecology
2024

Aortic Steal Correlates with Acute Organ Dysfunction and Short-Term Outcomes in Neonates with Vein of Galen Malformation.

Neonatology
2023

Vein of Galen malformations in the newborn: case series.

Journal of neurosurgery. Case lessons
2023

Understanding development of jugular bulb stenosis in vein of galen malformations: identifying metrics of complex flow dynamics in the cerebral venous vasculature of infants.

Frontiers in physiology
2023

That which is unseen: 3D printing for pediatric cerebrovascular education.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Doppler Ultrasound Flow Reversal in the Superior Sagittal Sinus to Detect Cerebral Venous Congestion in Vein of Galen Malformation.

AJNR. American journal of neuroradiology
2023

Spontaneous thrombosis of vein of Galen malformation managed with surgical resection: a case‑based review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Transuterine Ultrasound-Guided Fetal Embolization of Vein of Galen Malformation, Eliminating Postnatal Pathophysiology.

Stroke
2023

Heart Failure Following Sinus Venosus Defect Closure in a Patient With Vein of Galen Malformation.

JACC. Case reports
2023

Rapid ventricular overdrive pacing and other advanced flow-control techniques for the endovascular embolization of vein of galen malformations.

Frontiers in pediatrics
2023

Pulmonary Hypertension in Infants and Children with Vein of Galen Malformation and Association with Clinical Outcomes.

The Journal of pediatrics
2023

Initial experience with Scepter Mini dual lumen balloon for embolization of cerebrovascular diseases.

Journal of cerebrovascular and endovascular neurosurgery
2023

Overcoming roadblocks in clinical innovation via high fidelity simulation: use of a phantom simulator to achieve FDA and IRB approval of a clinical trial of fetal embolization of vein of Galen malformations.

Journal of neurointerventional surgery
2022

Unrepaired Maternal Vein of Galen Malformation in Pregnancy: A Case Report.

A&amp;A practice
2022

Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.

Molecular syndromology
2022

Tricuspid regurgitation and left ventricular eccentricity as a measure of heart failure in the newborn patient with a vein of Galen malformation: illustrative case.

Journal of neurosurgery. Case lessons
2023

Vein of Galen Aneurysmal Malformation with Anomalous Right Superior Vena Cava to the Left Atrium Leading to Atypical Clinical and Echocardiographic Findings.

Pediatric cardiology
2022

Outcomes of endovascular embolization for Vein of Galen malformations: An individual participant data meta-analysis.

Frontiers in pediatrics
2023

Morphometric evaluation of great vein of Galen and its clinical implications.

Anatomy &amp; cell biology
2023

The composition of landmark vein of Galen malformation research: the emergence of endovascular treatments.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Evolution of transvenous embolization in vein of Galen malformation: case series and review of the literature.

Journal of neurointerventional surgery
2023

Vein of Galen malformation and cardiopulmonary bypass.

Perfusion
2022

Brain Injury in Fetuses with Vein of Galen Malformation and Nongalenic Arteriovenous Fistulas: Static Snapshot or a Portent of More?

AJNR. American journal of neuroradiology
2022

Outcome of Neonates Presenting With Severe Cardiac Failure due to Cerebral Arteriovenous Fistula.

Pediatric neurology
2023

Rapid Ventricular Pacing Facilitates Transarterial Embolization in Vein of Galen Malformations.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2021

Hydrocephalus in Vein of Galen Malformations.

Neurology India
2022

Pulmonary hypertension associated with vein of Galen malformation. Fetal cardiac hemodynamic findings and physiological considerations.

Journal of perinatology : official journal of the California Perinatal Association
2021

Vein of Galen Malformation Manifesting as High-Output Heart Failure.

Cureus
2022

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

American journal of medical genetics. Part A
2021

Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation.

Pediatric neurosurgery
2021

Management of Jugular Bulb Stenosis in Pediatric Vein of Galen Malformation: A Novel Management Paradigm.

Pediatric neurosurgery
2022

Initial experience with the Scepter Mini catheter for the embolization of vascular malformations in the pediatric population.

The neuroradiology journal
2021

Transvenous Pressure Monitoring Guides Endovascular Treatment of Vein of Galen Malformation: A Technical Note.

Pediatric neurosurgery
2021

High Output Cardiovascular Physiology and Outcomes in Fetal Diagnosis of Vein of Galen Malformation.

Pediatric cardiology
2021

Coil assisted glue embolization to improve safety and accuracy in endovascular management of Vein of Galen patients.

Clinical neurology and neurosurgery
2021

Epidemiology, Diagnostics, and Management of Vein of Galen Malformation.

Pediatric neurology
2022

A cardiopulmonary bypass strategy to support a patient with vein of Galen malformation.

Perfusion
2021

Scepter mini assisted angiographic cure of a Vein of Galen Malformation with n-butyl cyanoacrylate.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2021

Spontaneous regression of a vein of Galen aneurysmal malformation in a pediatric patient: illustrative case.

Journal of neurosurgery. Case lessons
2021

Spontaneous thrombosis of a vein of Galen malformation associated with acute sinusitis: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Neurovascular disease and syndromes: Diagnosis and therapy in children.

Handbook of clinical neurology
2021

Cerebral arteriovenous fistulae.

Handbook of clinical neurology
2020

Vein of Galen Malformation.

The New England journal of medicine
2020

Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort.

Pediatric neurology
2020

Fetal and Neonatal MRI Predictors of Aggressive Early Clinical Course in Vein of Galen Malformation.

AJNR. American journal of neuroradiology
2020

Pseudofeeders: sonographic sign of poor prognosis in fetus with vein of Galen malformation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Neuroangiography: Review of Anatomy, Periprocedural Management, Technique, and Tips.

Seminars in interventional radiology
2020

Factors Contributing to Major Neurological Complications From Vein of Galen Malformation Embolization.

JAMA neurology
2020

Cerebral vascular malformations and their imaging modalities.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.

American journal of medical genetics. Part A
2020

Endoscopic Third Ventriculostomy in an Untreated Vein of Galen Malformation Presenting Lately with Acute Obstructive Hydrocephalus.

World neurosurgery
2020

Vein of Galen malformation: beyond life or death.

Developmental medicine and child neurology
2020

Long-term outcome of vein of Galen malformation.

Developmental medicine and child neurology
2019

Vein of Galen Malformation, a cause of Intracranial Calcification: Case Report and Review of Literature.

Journal of radiology case reports
2019

Flow-directed micro-catheterisation technique over a detachable coil.

BMJ case reports
2021

Heart failure caused by VGAM: a lesson for diagnosis and treatment from a case and literature review.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2019

Targeted Neonatal Echocardiography-Guided Therapy in Vein of Galen Aneurysmal Malformation: A Report of Two Cases with a Review of Physiology and Approach to Management.

AJP reports
2019

Outcome of vein of Galen malformation presenting in the neonatal period.

Archives of disease in childhood
2019

Vein of Galen Malformations: The Texas Children's Hospital Experience in the Modern Endovascular Era.

Operative neurosurgery (Hagerstown, Md.)
2018

Case report on surgical repair of unusual dissection of arterial duct involving main pulmonary artery in a child with vein of Galen malformation.

European heart journal. Case reports
2019

Occlusion of a mural type vein of Galen malformation in a 10-month-old boy with three Woven EndoBridge (WEB 17) and two coils.

BMJ case reports
2019

Serial Quantitative and Qualitative Measurements of Flow in Vein of Galen Malformations Using 4-Dimensional Flow Magnetic Resonance Imaging (Phase Contrast Vastly undersampled Isotropic PRojection).

World neurosurgery
2019

An unusual cause of cardiac failure in a neonate.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2019

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Trends in molecular medicine
2019

Quantifying the Intra-Operative Hemodynamic Effects of Glue Embolization in Vein of Galen Malformations.

Proceedings. IEEE International Symposium on Biomedical Imaging
2019

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Neuron
2018

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2019

Pediatric Congenital Cerebrovascular Anomalies.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2018

Right superior caval vein to the left atrium in a child with vein of Galen malformation.

Echocardiography (Mount Kisco, N.Y.)
2018

A rare case of spontaneous thrombosis of vein of Galen malformation in a young adult diagnosed on magnetic resonance imaging and digital subtraction angiography.

Neurology India
2018

Cross-sectional study of a United Kingdom cohort of neonatal vein of galen malformation.

Annals of neurology
2019

Outcome of Neonates with Vein of Galen Malformation Presenting with Severe Heart Failure: A Case Series.

American journal of perinatology
2018

A review of extraaxial developmental venous anomalies of the brain involving dural venous flow or sinuses: persistent embryonic sinuses, sinus pericranii, venous varices or aneurysmal malformations, and enlarged emissary veins.

Neurosurgical focus
2018

Microsurgical Management of Vascular Malformations of the Pineal Region.

World neurosurgery
2018

Vein of Galen Malformation Thrombosis by Single-Stage, 2-Coil Embolization.

World neurosurgery
2019

Anatomy of the deep venous system in vein of Galen malformation and its changes after endovascular treatment depicted by magnetic resonance venography.

Journal of neurointerventional surgery
2020

Repair of Sinus Venosus Defect and Anomalous Pulmonary Veins Associated With Vein of Galen Malformation.

World journal for pediatric &amp; congenital heart surgery
2018

Dilated superior vena cava in fetal echocardiographic three-vessel view: what lies ahead?

Heart Asia
2018

Vein of Galen malformation: optimizing the management of postneonatal presentations.

Developmental medicine and child neurology
2018

Multimodality Management of Vein of Galen Malformations-An Institutional Experience.

World neurosurgery
2018

Adenosine-induced cardiac standstill for endovascular treatment of pediatric vein of Galen malformations.

Journal of neurosurgery. Pediatrics
2018

Presentation, course, and outcome of postneonatal presentations of vein of Galen malformation: a large, single-institution case series.

Developmental medicine and child neurology
2018

Human genetics and molecular mechanisms of vein of Galen malformation.

Journal of neurosurgery. Pediatrics
2018

Delayed and incomplete treatment may result in dural fistula development in children with Vein of Galen malformation.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2017

Giant vein of Galen malformation in an adult.

Radiology case reports
2017

Superselective transvenous embolization with Onyx and n-BCA for vein of Galen aneurysmal malformations with restricted transarterial access: safety, efficacy, and technical aspects.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2016

Vein of Galen Aneurysmal Malformation in Neonates Presenting With Congestive Heart Failure.

Child neurology open
2017

Vein of Galen malformation treated with the Micro Vascular Plug system: case report.

Journal of neurosurgery. Pediatrics
2018

Uncommon second-trimester presentation of vein of Galen malformation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2017

Vein of Galen malformation in a neonate: A case report and review of endovascular management.

World journal of clinical pediatrics
2016

Ectasia of transverse and sigmoid sinuses with vein of Galen malformation.

Neurology India
2016

Pediatric intracranial dural arteriovenous fistulas: age-related differences in clinical features, angioarchitecture, and treatment outcomes.

Journal of neurosurgery. Pediatrics
2017

Retreatment of a choroidal vein of Galen malformation with embolization 42 years after open surgical treatment in the neonatal period.

Journal of neurointerventional surgery
2017

Fistulous-type vein of Galen malformation phantom model for endovascular training and research.

Journal of neurointerventional surgery
2016

Spontaneous non-thrombotic regression of vein of Galen malformation in a child following shunt surgery.

Neurology India
2016

Pediatric knowledge update: Approach to the management of vein of Galen aneurysmal malformations in neonates.

Surgical neurology international
2016

Hydrocephalus in vein of Galen malformation. Another paradigm shift in neurosurgery.

Acta neurochirurgica
2016

Hydrocephalus in vein of Galen malformation: etiologies and therapeutic management implications.

Acta neurochirurgica
2016

Endovascular management of a vein of Galen aneurysmal malformation in an infant with challenging femoral arterial access.

Journal of neurosurgery. Pediatrics
2016

Mystery case: Intracranial hemorrhage in adult vein of Galen malformation.

Neurology
2016

Vein of Galen Malformation and High-output Cardiac Failure.

Anesthesiology
2016

Spontaneous thrombosis of a vein of galen malformation.

Asian journal of neurosurgery
2016

Occlusion of Posterior Fossa Dural Sinuses in Vein of Galen Malformation.

AJNR. American journal of neuroradiology
2015

Antenatal diagnosis of aneurysmal malformation of the vein of Galen.

BMJ case reports
2016

A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2015

Pediatric central nervous system vascular malformations.

Pediatric radiology
2015

Outcome and complications of endovascular embolization for vein of Galen malformations: a systematic review and meta-analysis.

Journal of neurosurgery
2015

Optimizing cerebrovascular surgical and endovascular procedures in children via personalized 3D printing.

Journal of neurosurgery. Pediatrics
2015

Safety of neuroangiography and embolization in children: complication analysis of 697 consecutive procedures in 394 patients.

Journal of neurosurgery. Pediatrics
2015

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies--a previously unreported occurrence.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2015

Vein of galen aneurysmal malformation: prognostic markers depicted on fetal MRI.

The neuroradiology journal
2015

Relapsing fetal bilateral hydrothorax, an isolated expression of a vein of Galen aneurysmal malformation.

BMJ case reports
2015

Varying clinical and imaging outcomes in patients with spontaneous thrombosis of vein of Galen malformation--a report of two cases.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. From fetal cardiac axis deviation to postnatal neurovascular diagnosis: road to a diagnosis of vein of Galen malformation.
    BMJ case reports· 2026· PMID 41617367mais citado
  2. Fetal Vein of Galen Malformation-Reply.
    JAMA· 2026· PMID 41405903mais citado
  3. Fetal Vein of Galen Malformation.
    JAMA· 2026· PMID 41405872mais citado
  4. Endoscopic Third Ventriculostomy for Adjunctive Management of Hydrocephalus Associated With Previously Embolized Vein of Galen Malformations.
    Neurosurgery· 2026· PMID 41817186mais citado
  5. Vein of Galen Malformation with Pial Arteriovenous Fistula in a 12-month-old Child.
    Asian journal of neurosurgery· 2026· PMID 41782586mais citado
  6. Favourable outcome of a neonate with vein of Galen malformation with concurrent right superior vena cava draining into the left atrium.
    Cardiol Young· 2026· PMID 41940514recente
  7. A Combination Of Vein Of Galen Aneurysmal Malformation And Bovine Aortic Arch In Newborn: A Case Report.
    JNMA J Nepal Med Assoc· 2025· PMID 41766832recente
  8. Safety profile of DMSO-based liquid embolic agents for neurointerventional procedures in neonates, infants, and toddlers: a cohort study.
    AJNR Am J Neuroradiol· 2026· PMID 41667227recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1053(Orphanet)
  2. MONDO:0015196(MONDO)
  3. GARD:5467(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q11766796(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Malformação aneurismática da veia de Galeno
Compêndio · Raras BR

Malformação aneurismática da veia de Galeno

ORPHA:1053 · MONDO:0015196
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
Unknown
Herança
Not applicable
CID-10
Q28.2 · Malformação arteriovenosa dos vasos cerebrais
CID-11
Ensaios
2 ativos
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0431420
EuropePMC
Wikidata
Papers 10a
Evidência
🥇 Rev. sistemática
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