Galen Aneurysmal Malformation Research Articles

Vein of galen malformations: for patients and caregivers.

Vein of Galen malformations (VOGMs), also known as Vein of Galen Aneurysmal Malformations (VGAMs), are rare and complex cerebrovascular anomalies that pose significant diagnostic and therapeutic challenges. These malformations result from abnormal arteriovenous shunts during embryonic development, leading to a range of severe clinical manifestations, including high-output cardiac failure and hydrocephalus. Advances in prenatal imaging, particularly fetal MRI, have improved early detection, allowing for timely intervention. Endovascular techniques, especially transarterial embolization, have become the primary treatment modality, often preferred over surgical approaches due to their effectiveness and lower risk. However, challenges remain, particularly in managing these malformations in neonates and infants, where the risk of complications is high. Gamma Knife radiosurgery offers a non-invasive alternative for select cases, though its effects are gradual and may carry delayed risks. Despite advancements, the management of VOGMs continues to require a multidisciplinary approach, with ongoing research focused on improving outcomes through a better understanding of the genetic and molecular underpinnings of the disease. Future directions include the integration of genetic studies into clinical practice and the refinement of treatment strategies to optimize outcomes for this complex condition.

Pediatric interventional neuroradiology: "How I do it" vol. II-Embolization.

Pediatric arteriovenous shunts can be challenging to embolize and the consequences of excess venous penetration disastrous. Moreover, the congenital nature of most shunts necessitates neonatal intervention whenever (medically refractory) heart failure occurs. Here, we describe current endovascular treatment strategies based on personal experience and literature review. While disparate, arteriovenous malformation, dural arteriovenous fistula (AVF), pial AVF, and vein of Galen aneurysmal malformation share unifying features such as high output heart failure and venous hypertension. This tutorial is divided into passages on Goals, Access, and Treatment which respect differences among pediatric arteriovenous shunts while maintaining a narrative economy.

Cerebrofacial Venous Metameric Syndrome Mimicking Vein of Galen Aneurysmal Malformation

Cerebrofacial venous metameric syndrome (CVMS) is a complex low-flow vascular malformation affecting bone and soft tissues including brain, dura mater, and eye. We show images of CVMS in an 18-month-old boy presenting facial venous malformations, developmental venous anomalies, dural sinus malformations, and dilated great cerebral vein, suggesting a vein of Galen aneurysmal malformation. Although Sturge-Weber syndrome is the most known form of CVMS, its presentations are variable and include several venous malformations. Recognizing the various manifestations of CVMS is necessary for adequate screening, treatment, and follow-up.

Prenatal intervention in vein of Galen aneurysmal malformation via transuterine ultrasound-guided fetal embolization: call for global registry.

Prenatal intervention in vein of Galen aneurysmal malformation via transuterine ultrasound-guided fetal embolization: call for global registry.

Vein of Galen aneurysmal malformation: does size affect outcome?

PurposeTo validate a semiautomated method for segmenting vein of Galen aneurysmal malformations (VGAM) and to assess the relationship between VGAM volume and other angioarchitectural features, cardiological findings, and outcomes.MethodsIn this retrospective study, we selected all subjects with VGAM admitted to the Gaslini Children’s Hospital between 2009 and 2022. Clinical data were retrieved from electronic charts. We compared 3D-Slicer segmented VGAM volumes obtained by two independent observers using phase-contrast MR venography to those obtained with manual measurements performed on T2-weighted images. The relationship between VGAM volumes and clinical and neuroimaging features was then explored.ResultsForty-three subjects with VGAM (22 males, mean age 6.56 days) were included in the study. Manual and semiautomated VGAM volumes were well correlated for both readers (r = 0.86 and 0.82, respectively). Regarding reproducibility, the inter-rater interclass correlation coefficients were 0.885 for the manual method and 0.992 for the semiautomated method (p < 0.001). The standard error for repeated measures was lower for the semiautomated method (0.04 versus 0.40 of manual method). Higher VGAM volume was associated with superior sagittal sinus narrowing, jugular bulb stenosis, and aqueductal stenosis (p < 0.05). A weak correlation was found between VGAM volume and straight sinus dilatation (r = 0.331) and superior sagittal sinus index (r = − 0.325). No significant associations were found with cardiac findings, post-embolization complications, and outcome (p > 0.05).ConclusionsSemiautomated VGAM volumetry is feasible and reliable with improved reproducibility compared to the manual method. VGAM volume is not a prognostic factor for clinical outcome, but it is related to other venous findings with potential hemodynamic effects.

A Twisted Tale of Vein of Galen Aneurysmal Malformation

AbstractThis illustration presents a three-dimensional representation of the vascular structure of the vein of Galen aneurysmal malformation (VGAM), which is a rare congenital brain vascular abnormality characterized by the enlargement of the embryonic precursor of the vein of Galen—specifically, the median prosencephalic vein of Markowski. VGAM constitutes an arteriovenous fistula formed between the deep choroidal arteries and the embryonic median prosencephalic vein. Its development initiates early but is typically detectable via sonography only during the second- or third-trimester of gestation. The comprehensive assessment of the vascular anatomy of VGAM necessitates the examination of both the incoming (afferent) and outgoing (efferent) vessels.

Endovascular treatment of vein of Galen aneurysmal malformation: hospital-based case series in two tertiary centers

BackgroundVein of Galen aneurysmal malformation (VGAM) is considered a rare vascular malformation, constituting over 1% of all arteriovenous shunts. This malformation represents around 30% of congenital vascular malformations in the pediatric population. The focus of our study is to examine both the clinical and radiological outcomes following endovascular embolization in pediatric patients with Galenic arteriovenous shunts. Our aim is to evaluate the safety and efficacy of endovascular management. This research aims to contribute to understanding the management and outcomes of VGAM in pediatric patients, particularly in the context of endovascular embolization.MethodThis study included 19 patients with vein of Galen malformation evaluated clinically and radiologically and we treated them with endovascular embolization with aim to assess safety and efficacy of endovascular treatment of VGA in the period from May 2019 to December 2022.ResultsWe evaluated 12 male patients 63.2% and 7 females 36.8% in pediatric age group with vein of Galen malformation. Patients were followed for 1 year. Our study included 3 neonates (15.8%), 10 infants (52.6%) and 6 children (2–10 years) (31.6%). Increase SC (skull circumference) was the most common presenting symptoms 8 (42.1%). We have reached total occlusion in 15 patients (78.9%) while 4 patients had residual (21.1%). 11 patients improved (57.9%) and 2 patients died (10.5%).ConclusionVGAM are not very rare and should be kept in mind in children with refractory heart failure. Introduction of endovascular embolization as the primary therapy has significantly improved prognosis. Good selection of cases based on their score and good timing of treatment has impact on prognosis with less morbidities.

Update on the Vein of Galen Aneurysmal Malformation : Disease Concept and Genetics.

Vein of Galen aneurysmal malformation is one of important pediatric arteriovenous shunt diseases, especially among neonates and infants. Here, early history of the disease identification, basic pathoanatomy with a focus on the embryonic median prosencephalic vein, classification and differential diagnoses, and recent genetic studies are reviewed.

Fetal Vein of Galen Aneurysmal Malformation (VGAM) Detected at 36 Weeks: Review of Literature and Case Report

Abstract Vein of Galen malformation is a rare intracranial vascular lesion most often concomitant with poor prognosis when associated with high-output cardiac failure. We present a case that was diagnosed late in the third trimester, but due to the limitations in our local settings, immediate operative intervention could not be done. A 24-year-old primigravida was sent for a routine 36-week obstetric ultrasound scan (USS), which revealed a midline cystic structure with mosaic color signals on a duplex Doppler USS within the fetal head. The unavailability of fetal magnetic resonance venography (MRV) delayed confirmation until the postnatal period. An MRV done on the second day of delivery showed a dilated, tortuous midline structure in the region of the vein of Galen, which confirmed the findings. Echocardiography revealed multiple cardiac lesions. Although, both antenatally and at birth, there was no cardiac failure, the baby died on the seventh day of life from possible cardiac compromise.

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

Plain Language SummaryVein of Galen malformation is a rare, congenital intracerebral arteriovenous malformation with high morbidity and mortality in neonatal manifestation despite modern interdisciplinary strategies. Currently, there is no valid, noninvasive parameter for early prediction of clinical progression at the bedside. A typical finding of hemodynamically relevant vein of Galen malformation is flow reversal in the descending aorta (aortic steal). Therefore, we developed a new ultrasound method to quantify the percentage of reflux in the preductal aortic isthmus and integrated the measurement method into routine clinical practice. In this study, we retrospectively investigated the association between percentage of aortic steal, organ dysfunction parameters, mortality, and brain injury on magnetic resonance imaging (MRI) at baseline and follow-up in 12 neonates with vein of Galen malformation admitted between January 2021 and June 2022. Statistical analyses showed that the severity of organ dysfunction, mortality, and brain damage on MRI increased with increasing percentage of aortic steal. These correlations and associations showed a linear relationship between percentage reflux in the aortic isthmus and all outcome parameters. The potential of sonographically determined aortic steal to predict clinical progression and short- and long-term outcomes needs to be investigated in larger, prospective cohorts. If this marker proves as promising as the data from this study suggest, it could become an important diagnostic component for management and decision-making in critically ill neonates with vein of Galen malformation.

Prenatal features of aneurysm of the posterior cerebral artery: a case report

BackgroundFetal cerebral aneurysm other than aneurysm of vein of Galen aneurysmal malformation (VGAM) is extremely rare. This report describes prenatal features of aneurysm of the posterior cerebral artery (APCA) with rapid progression and its natural intrauterine course of the disease, which has never been reported.Case presentationThis is the first report of prenatal features of APCA, detected at 34–36 weeks of gestation, simulating choroid plexus cyst or arachnoid cyst. The diagnosis was based on color flow ultrasound with tracing along the course of cerebral arteries. Also, rendered 3D color flow ultrasound was helpful in demonstrating course of the vessels feeding the aneurysm and supporting the diagnosis. The aneurysm showed nature of rapidly progressive changes, leading to leakage resulting in intracerebral and intraventricular hemorrhage as well as high output state associated with anemia. Prenatal diagnosis and management are very challenging. This case ended up with planned delivery at 37 weeks, giving birth to a surviving male newborn, weighing 2600 g. The neonatal CT brain scans and CTA confirmed the prenatal findings. The prognosis was relatively poor because of extensive intracerebral hemorrhage with severe hydrocephalus and brain midline shift. The couple opted for neonatal palliative care without neurosurgical correction.ConclusionThis study demonstrate that the most important tool for prenatal diagnosis is color Doppler ultrasound, which will demonstrate turbulent blood flow. Three-dimension color Doppler ultrasound is helpful in supporting the diagnosis. The case presented here suggests that the disease has a natural course of rapid progression and massive brain destruction or high output congestive heart failure can be expected.

Echocardiography evaluation of neonatal vein of Galen aneurysmal malformation.

In neonatal vein of Galen aneurysmal malformation, vein of Galen aneurysmal malformation echocardiography remains the mainstay for early detection and explains various haemodynamic changes occurring due to a large systemic arterio-venous shunt. However, there is limited evidence of echocardiography in risk stratifying neonatal vein of Galen aneurysmal malformation vein of Galen aneurysmal malformation. The objective of this study was to identify echocardiographic parameters that could be associated with major outcomes and guide timing of neuro-intervention. In this retrospective chart review, infants < 28 days of age with the diagnosis of vein of Galen aneurysmal malformation vein of Galen aneurysmal malformation were included. Demographic, clinical, and echocardiographic parameters were compared in neonates who survived or died with neonatal presentation. A risk algorithm model based on key echocardiographic parameters was developed to determine those who are at risk of early death. Of the 19 neonates included, with median birth weight 3.1 kg (IQR 2.58-3.36), nine (47%) neonates died at median age of 5 days (IQR 4-17). All neonates showed retrograde diastolic flow at the level of descending aorta by colour Doppler on the first post-natal echocardiogram at median age of 2 days (IQR 1-5.5). An aortic antegrade-to-retrograde velocity time integral ratio of < 1.5 and supra-systemic pulmonary artery pressure had 100% positive predictive value of death (p = 0.029), whereas aortic antegrade-to-retrograde velocity time integral ratio of > 1.5 and sub-systemic pulmonary artery pressure had 100% positive predictive value of survival (p = 0.029). Combination of aorta antegrade-to-retrograde velocity time integral ratio and degree of pulmonary hypertension on the first post-natal echocardiogram may help stratify the severity of disease and guide optimal timing for neuro-intervention for neonatal vein of Galen aneurysmal malformation.

EP07.11: Melting brain in Vein of Galen aneurysmal malformation: different MRI sequences role

EP07.11: Melting brain in Vein of Galen aneurysmal malformation: different MRI sequences role

Long-Term Outcomes of Endovascular Embolization in a Vein of Galen Aneurysmal Malformation: A Single-Center Experience.

A vein of Galen aneurysmal malformation (VGAM) is a rare congenital cerebral vascular condition with a high mortality rate if left untreated. This study describes the long-term outcomes of patients with VGAM, who were treated with endovascular embolization. This retrospective analysis focused on VGAM patients who underwent one or more endovascular embolization sessions between January 2008 and December 2022. The study included newborns and children under 18 years. Data encompassed clinical and demographic characteristics, types of endovascular embolization, treatment complications, mortality rates, and long-term outcomes. Out of 22 VGAM cases, the majority were boys (86.36%), and the average age of the participants was 38 months, ranging from 25 days to 17 years. Endovascular embolization using liquid embolizing agents was the most common intervention (50%), and around 73% of patients underwent multiple sessions. Some patients underwent ventriculoperitoneal shunting (VPS) due to persistent hydrocephalus. In long-term outcomes, four patients (18.2%) showed developmental delays, and 16 patients (72.7%) had a positive outcome. Combining endovascular therapy with a comprehensive management strategy significantly reduces mortality rates and improves the possibility of normal neurological development in patients.

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center.

Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes. To describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes. This is a single center retrospective cohort study including all consecutive newborns with VGAM admitted to Gaslini Children's Hospital between 2009 and 2022. We reviewed clinical data, intensive care support, fetal and neonatal cardiologic and neuroradiologic findings and we studied the association with severe HOHF, endovascular complications and death. Out of 40 newborns, 17 (42.5%) developed severe HOHF requiring early endovascular procedures. Medical treatment was focused on the main components of HOHF by providing inotropic support and peripheral vasodilation. Pulmonary vasodilators were avoided to reduce the negative effects of pulmonary overflow and prevent vascular remodeling. Reduction of the obligatory left to right shunt through the VGAM was possible only through endovascular treatment. Fetal cardiothoracic ratio was significantly associated with severe HOHF at birth and death. Cardiologic parameters of right ventricular overload, pulmonary hypertension and systemic steal were the leading findings associated with haemodynamic compromise at birth. The mediolateral diameter of the straight or falcine sinus at its shortest section (SS-MD), and arterial pseudofeeders were significantly associated with severe HOHF at birth in prenatal and postnatal assessments. None of the postnatal echocardiographic and MRI variables, nor a higher inotropic support were associated with major periprocedural complications or death. Mortality was due to palliation for congenital severe brain damage (4/40, 10%), or major periprocedural complications (3/40, 7.5%). None of the patients died due to HOHF and multiorgan failure. Overall survival at discharge was 82.5% (33/40). The complexity of neonatal VGAM pathophysiology requires a multidisciplinary approach, specialized intensive care management, and early endovascular treatment to reduce mortality and optimize clinical outcomes. Cardiologic and neuroradiologic parameters are key to define risk stratification and treatment strategies.

Intracranial arteriovenous shunts in infants: A decade of experience from a quaternary pediatric center.

Intracranial arteriovenous shunts (IAVS) are rare vascular diseases in infants. They can be categorized into vein of Galen aneurysmal malformation (VGAM), pial arteriovenous fistula (PAVF), and dural arteriovenous fistula associated with dural sinus malformation (DAVF/DSM). We sought to review the clinical presentation, imaging characteristics, endovascular treatment (EVT), and outcomes of IAVS in infants presenting to a quaternary pediatric referral center over one decade. A retrospective review of a prospectively maintained database was performed of all infants diagnosed with IAVS between January 2011 and January 2021 in a quaternary pediatric referral center. For each patient, demographic data, clinical presentation, imaging findings, management strategies, and outcomes were reviewed and discussed. Over the study period, 38 consecutive infants were diagnosed with IAVS. Patients with VGAM (23/38, 60.5%) presented with congenital heart failure (CHF) (14/23), hydrocephalus (4/23), and seizures (2/23), and three patients were asymptomatic. Eighteen patients with VGAM underwent EVT. Among those, 13 patients (72.2%) were successfully treated with an angiographic cure and three patients (3/18, 17%) died. Patients with PAVF (9/38, 23.7%) presented with CHF (5/9), intracranial hemorrhage (2/9), and seizures (2/9), and all of them were successfully treated endovascularly. Patients with Type I DAVF/DSM (4/6, 66.6%) presented with mass effect (2/4), cerebral venous hypertension (1/4), CHF (1/4), and cerebrofacial venous metameric syndrome (1/4). Patients with type II DAVF/DSM (2/6, 33.3%) presented with a thrill behind the ear. Patients with DAVF/DSM were treated endovascularly, five patients were cured, and one with type I DAVF/DSM died. Intracranial arteriovenous shunts are rare but potentially life-threatening neurovascular pathologies in infants. Endovascular treatment is challenging but feasible in carefully selected patients.

MRI Presentation of an Aneurysmal Malformation of the Vein of Galen Revealed by Proptosis and Epileptic Seizure in an 18-Month-Old Child: A Case Report

Vein of Galen aneurysm is a rare and complex congenital, vascular malformation of the median line with severe prognosis. It is commonly associated with refractory heart failure. This disorder usually occurs during the neonatal period and in infants. It is characterized by age- dependent clinical polymorphism. Diagnosis is based on cerebral angiography which plays a role in diagnostic and therapeutic decisions. Now, the treatment of choice is based on endovascular embolization which has improved survival rates. We here report a case of Galen aneurysmal malformation in a small child aged 18 months revealed by seizures and bilatéral proptosis.

The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience

BackgroundTo evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort.MethodsThis was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies. All pregnant women underwent a series of prenatal ultrasound scans at 11–14, 20–24, 28–34 and 34–38 weeks of gestation. Abnormalities were confirmed by magnetic resonance imaging, postmortem examination or trained ultrasound professionals. Pregnancy outcomes and some postnatal follow-up were obtained from maternity medical records and telephone calls.ResultsA total of 38,586 pregnancies included in the study. The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exencephaly, anencephaly, alobar holoprosencephaly and meningoencephalocele, and some cases of posterior cranial fossa anomalies (20%), open spina bifida (67%), semilobar holoprosencephaly (75%) and severe ventriculomegaly (8%). Vein of Galen aneurysmal malformation, closed spina bifida, lobar holoprosencephaly, intracranial infection, arachnoid cyst, agenesis of the corpus callosum, cysts of the septum pellucidum and isolated absence of the septum pellucidum were never detected during the first trimester. The abortion rates of fetal CNS anomalies detected by first-trimester scan, second-trimester scan, and third- trimester scan were 96%, 84% and 14%, respectively.ConclusionsThe study showed that almost 1/3 of central nervous system anomalies were detected by the standard first-trimester scan and these cases were associated with a high rate of abortion. Early screening for fetal abnormalities gives parents more time for medical advice and safer abortion if needed. It is therefore recommended that some major CNS anomalies should be screened in the first trimester. The standardized anatomical protocol, consisting of four fetal brain planes, were recommended for routine first trimester ultrasound screening.

A VEIN OF GALEN MALFORMATION - A RARE CAUSE OF CONGESTIVE CARDIAC FAILURE IN NEONATE

Vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. Vein of Galen aneurysmal malformation (VGAM) is a rare cause of congestive heart failure in the neonatal period and carries a high mortality rate. It is a difcult diagnosis because the clinical picture often presents with symptoms suggesting that the patient has a congenital cardiac malformation.1,2 Patients are subjected to high-risk procedures such as cardiac catheterization to establish a diagnosis. These investigations often have negative ndings and can delay correct diagnosis. Here we report a case of Four days old neonate with c/o Increased respiratory activity since 2 days with tachycardia, tachypnea and oliguria. Continuous murmur was noted with features suggestive of Congestive cardiac failure i.e. Tachycardia, tachypnoea, hepatomegaly. Bruit + over Anterior Fontanelle. USG skull revealed the presence of Vein of Gallen Aneurysmal Malformation. 2D ECHO was done which suggestive of Congenital Heart Disease; moderate OS ASD with left to right shunt Dilated cardiac chambers; No PAH; Normal biventricular function .CECT Brain showed the presence of Aneurysmal deep venous structure measuring 20 x 25 mm noted in the supratentorial region of posterior fossa (in quadrigeminal cistern) which drained to vein of galen (VGAM) and the vessel feeding the aneurysm was arising from basilar artery.Hence diagnosis was made.Child initially treated symptomatically for cardiac failure then Endovascular treatment i.e. embolization was performed on 30th day of life.The VGAM was partially occluded.Then symptoms got relieved after Embolization

169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation

INTRODUCTION: Early neurovascular development is a complex and intricate process with devastating consequences when impaired. Vein of Galen Aneurysmal Malformations (VGAMs) are the most common and severe neonatal arteriovenous malformation and often present with high-output heart failure, hydrocephalus, neurodevelopmental delay, and brain hemorrhage. Despite their prevalence and severity, little is known regarding their genetic pathomechanism. METHODS: Genetic samples were collected from 114 VGAM probands, including 90 trios, from multiple sites. Collected specimens underwent whole exome sequencing, pathway analysis, and select ACVRL1 and EPHB4 mutations identified via sequencing were then studied in zebrafish models. RESULTS: Exome sequencing revealed a genome-wide significant burden of de novo mutations in Ras suppressor p120 Ras-GAP (RASA1) (enrichment = 324-fold; p = 4.8 x 10-7). Damaging transmitted variants were enriched in p120 Ras-GAP negative regulator Eph-B4 (EPHB4) (odds ratio = 27.4; p = 1.7 x 10-6). Eph-B4 missense variants caused loss of receptor tyrosine kinase activity constitutive Ras activation. Other probands had pathogenic variants in OMIM vascular disease genes PTNPN11, NOTCH1, and ACVRL1; the latter we found mutated in an ultra-rare multi-generational VGAM family. Pathway analysis identified enrichment of rare, damaging de novo and inherited variants in a network of interacting OMIM vascular disease genes involved in axon guidance (FDR = 2.3 x 10-5; enrichment = 3.65-fold). In zebrafish, the functional studies of ACVRL1 and EPHB4 confirmed severe vascular defects in mutant embryos. CONCLUSIONS: These results demonstrate that genetic regulation of a RASA1-centered Ras signaling hub is critical for cerebrovascular development and is impaired in VGAM pathogenesis. This finding has significant implications for the genetic counseling of patient families and the development of targeted therapeutics for VGAM neurovascular disorders.