Galen Malformation Research Articles

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

BackgroundVein of Galen malformation (VOGM) is a rare, life-threatening vascular malformation in neonates and is treated with embolization. However, even at the most experienced centers, patients face high mortality and...

Vein of Galen Malformation in a Child with Tetralogy of Fallot: Clues on Echocardiography and Clinical Examination

Vein of Galen Malformation in a Child with Tetralogy of Fallot: Clues on Echocardiography and Clinical Examination

Arterial approach in vein of Galen aneurysmal malformation: Coils and EVOH

BackgroundThe vein of Galen aneurysmatic malformation VAGM, is a rare intracranial vascular malformation, that represents approximately 1 % of neurovascular malformations and 20–30 % of all pediatric vascular malformations, although it has high rates of morbidity, it can be treated with an endovascular approach, with better results. Material and methodsWe made a retrospective, monocentric study with a total of 4 patients with a diagnostic vein of Galen malformation over a period of 9 years, reviewing medical charts, and diagnostic imaging studies, using the Bicêtre score to decide treatment, and using new techniques, combining materials in one or multiple sessions. ResultsComplete occlusion was achieved in all cases, almost all cases (75 %) had a better clinical presentation from the first session with just one embolization session, in 50 % of patients (2/4) both with a mural feeders type 2 and 1, respectively. The case with the lowest score 8/21, died after the first embolization session due to multiorgan dysfunction syndrome. ConclusionAn endovascular arterial approach combining EVOH, and coils is considered the best technique to treat vein of Galen aneurysmal malformation, because it has better control of the embolization, adding security and precision in the right hands, while also enhancing the cost-effectiveness of the procedure.

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

BACKGROUNDSuccessful management of a vein of Galen malformation (VoGM) in the newborn patient requires a highly coordinated team approach involving neonatologists, pediatric cardiologists, pediatric neurologists, neurosurgeons, and interventionalists. Indication and timing of catheter intervention are topics of ongoing debate.OBSERVATIONSThe authors highlighted two key echocardiographic markers believed to be practical indicators regarding the need for urgent catheter embolization in neonates with a VoGM. The first and preferred parameter was the tricuspid valve regurgitation (TR) gradient, an estimate of pulmonary artery hypertension. If the TR gradient exceeds systolic blood pressure (suprasystemic pulmonary hypertension [PH], i.e., >60 mm Hg), urgent intervention should be considered in eligible newborns. The second parameter was the left ventricular end-systolic eccentricity index (EI), a newly emerging echocardiographic marker and indirect correlate of PH. As an alternative to the TR gradient, an increased eccentricity index (>1.6) suggests severe right heart compromise, requiring emergency catheter embolization of the malformation. Postoperatively, the progressive reduction of both the TR gradient and the EI correlated with recovery.LESSONSIn eligible newborns, urgent embolization of a VoGM is recommended in the presence of suprasystemic TR gradients and/or increased EI >1.6.

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

IntroductionUnderstanding outcomes after Vein of Galen malformation (VOGM) embolization has been limited by small sample size in reported series and predominantly single center studies. To address these limitations, we perform an individual-participant meta-analysis (IPMA) to identify risk factors associated with all-cause mortality and clinical outcome after VOGM endovascular embolization.MethodsWe performed a systematic review and IPMA of VOGM endovascular outcomes according to PRISMA guidelines. Individual patient characteristics including demographic, intra/post-operative adverse events, treatment efficacy (partial or complete occlusion), and clinical outcome were collected. Mixed-effects logistic regression with random effects modeling and Bonferroni correction was used (p ≤ 0.003 threshold for statistical significance). The primary and secondary outcomes were all-cause mortality and poor clinical outcome (moderate/severe developmental delay or permanent disabling injury), respectively. Data are expressed as (mean ± standard deviation (SD)) or (odds ratio (OR), 95% confidence interval (CI), I2, p-value)ResultsThirty-five studies totaling 307 participants quantifying outcomes after endovascular embolization for VOGM were included. Follow up time was 42 (±57) months. Our analysis contained 42% neonates (<1 month) at first embolization, 45% infants (1 month ≤2 years), and 13% children (>2 years). Complete occlusion was reported in 48% of participants. Overall all-cause mortality was 16%. Overall, good clinical outcome was achieved in 68% of participants. First embolization as a neonate [OR = 6.93; 95% CI (1.99–24.08); I2 < 0.01; p < 0.001] and incomplete embolization [OR = 10.87; 95% CI (1.86–63.55); I2 < 0.01; p < 0.001] were associated with mortality. First embolization as a neonate [OR = 3.24; 95% CI (1.47–7.15); I2 < 0.01; p < 0.001], incomplete embolization [OR = 5.26; 95% CI (2.06–13.43); I2 < 0.01; p < 0.001], and heart failure at presentation [OR = 3.10; 95% CI (1.03–9.33); I2 < 0.01; p = 0.002] were associated with poor clinical outcomes. Sex, angioarchitecture of lesion, embolization approach (transvenous vs. transarterial), and single or multistage embolization were not associated with mortality or clinical outcome.ConclusionsWe identify incomplete VOGM embolization independently associated with mortality and poor clinical outcome. While this study provides the highest level of evidence for VOGM embolization to date, prospective multicenter studies are needed to understand the optimal treatment strategies, outcomes, and natural history after VOGM embolization.

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

Since the advent of endovascular treatment, the long-term prognosis of vein of Galen malformation (VOGM) has markedly improved; however, the nature of research leading to this point is unclear. The objective of this study was to define the composition of VOGM research to date, by means of a bibliometric analysis of the 100 most cited VOGM articles. An electronic search of Elsevier's Scopus database was performed to identify the 100 most cited articles on VOGM screened against predetermined criteria. Data were then compared. The 100 most cited VOGM articles were published between 1974 and 2017 in 38 unique journals and originated from 16 unique countries. Mean citation count and rate were 59.4 citations and 2.9 citations/year, respectively. The USA (n = 42); Hôpital de Bicêtre, France (n = 15); and Dr. Pierre Lasjaunias (n = 16) were the largest individual country, institutional, and author contributors. Compared to the older articles (published < 2000), key differences for newer articles were statistically higher citation rates (P < 0.01), more authors (P < 0.01), higher proportion of endovascular treatment descriptions (P = 0.01), and more originating from Asia Pacific (P < 0.01). From the 100 most cited VOGM articles to date, there has been a noticeable shift from diagnosing VOGM based on the foundational work by Dr. Lasjaunias to understanding how we can model clinical outcomes now that endovascular treatment has become the standard of care. Significant shifts in prognosis are pending, and the current bibliometric data implicate we are on the precipice of more recent works making an impact in the near future.

Effects of inhaled nitric oxide (iNO) in pulmonary hypertension secondary to arteriovenous malformations: a retrospective cohort study from the European iNO registry

This study aims to assess the effects of inhaled nitric oxide (iNO) on oxygenation in the management of pulmonary hypertension (PH) secondary to arteriovenous malformations (AVMs) in neonates. This is a matched retrospective cohort study from January 1, 2013, to December 31, 2017. The European inhaled nitric oxide registry from 43 neonatal and pediatric ICUs in 13 countries across Europe was used to extract data. The target population was neonates treated with iNO for the management of PH. The cases (PH secondary to AVMs treated with iNO) were matched (1:4 ratio) to controls (PH without AVMs treated with iNO). The main outcome measure was the absolute change of oxygenation index (OI) from baseline to 60 min after starting iNO in cases and controls. The primary outcome of our study was that the mean absolute change in OI from baseline to after 60 min was higher among cases 10.7 (14), than in controls 6 (22.5), and was not statistically different between the groups. The secondary outcome variable — death before discharge — was found to be significantly higher in cases (55%) than in controls (8%). All the other variables for secondary outcome measures remained statistically insignificant. Conclusion: Infants with PH secondary to AVMs treated with iNO did not respond differently compared to those presented with PH without AVMs treated with iNO. Right ventricular dysfunction on echocardiography was higher in cases than controls (cases: 66.7% and controls: 28.6%) but was not statistically significant.What is Known:• Arterioenous malformation (AVM) is a well-known cause of persistent pulmonary hypertension in newborns. Inhaled nitric oxide (iNO) is most commonly used as first-line therapy for pulmonary hypertension in newborns.• Around 40–50% of vein of Galen malformations (VOGMs) are found to have congestive heart failure in the neonatal period.What is New:• Neonates may present with an isolated PH of the newborn as the main feature of the VOGMs. A large proportion of cases with AVMs have been associated with right ventricular cardiac dysfunction. • Results from one of the largest database registries in the world for iNO have been used to answer our research question.

Endovascular Treatment of Vein of Galen Malformation in Kenya, East Africa

Vein of Galen aneurysmal malformations (VGAM) are arteriovenous fistulas between the choroidal or quadrigeminal arteries and the embryonic precursor of the vein of Galen – the median prosencephalic vein. VGAM represents 30% of arteriovenous malformations in the paediatric age group. They are associated with a high morbidity and 90% mortality if untreated but respond well to intervention with mortality reduced to below 40%. There are few documented cases of VGAM worldwide and scarce data about these lesions in sub-Saharan Africa with challenges in diagnosis and management. We present two cases of infants diagnosed with VGAM and treated with endovascular embolisation. We examine the clinical and radiological data at presentation, intervention and follow-up at one year. We report on some of the technical neurointerventional details. Both patients had satisfactory radiological results and the interventions resulted notable clinical improvements from baseline. Physicians should maintain a high index of suspicion treating infants and toddlers presenting with macrocephaly, neurocognitive decline and cardiopulmonary symptoms. Upon diagnosis endovascular interventions are feasible and available.

Spontaneous Thrombosis of a Vein of Galen Malformation in the Adults: Case Report and a Review of the Literature

Spontaneous Thrombosis of a Vein of Galen Malformation in the Adults: Case Report and a Review of the Literature

Transvenous endovascular treatment for vein of Galen aneurysmal malformation with idiopathic bilateral sigmoid sinus occlusion.

Vein of Galen Malformations (VGAM) and bilateral idiopathic occlusion of the sigmoid sinuses are extremely rare. We report a child with Vein of Galen Aneurysmal Malformation (VGAM) and Idiopathic bilateral sigmoid sinus occlusion simultaneously, and managed through endovascular therapy in one session. This case highlights the coexistence of the lesions, as well as the one-session technical feasibility and good clinical outcome for endovascular treatment. The child presented with enlarged head circumference and epilepsy. The frequency of seizure increased from one time to several times a day. CTA/CTV confirmed coexistence of Vein of Galen Malformations and idiopathic bilateral sigmoid sinus occlusion. One session trans-venous approach was performed. The VGAM was completely occluded and the dominant sigmoid sinus was recanalized. Thirteen months telephone follow-up confirmed normal head growth. The patient is seizure-free and recovered very well with normal neurological and developmental condition. This study provides evidentiary support for one-session endovascular therapy in patient with VGAM and idiopathic bilateral sigmoid sinus occlusion.

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

Brain injury in fetuses with vein of Galen malformations and nongalenic AVFs is a rare complication whose appearance, course, and prognosis are poorly studied. We sought to characterize the MR imaging features and examine associations with postnatal outcome. This was a retrospective analysis of fetal MRIs of subjects with vein of Galen malformation and nongalenic arteriovenous fistulas. Two pediatric neuroradiologists independently reviewed examinations to determine the presence of abnormalities on structural imaging (T1 volumetric interpolated breath-hold examination and T2-HASTE), DWI, and T2*-weighted images; discrepancies were adjudicated by a third reviewer. Radiologic progression of injury was determined by additional fetal or neonatal MRIs. A simple composite score evaluating poor neonatal clinical outcome as either intubation or death by postnatal day 2 was also queried. A body fetal imager evaluated the presence of systemic findings of right heart strain. Forty-nine fetal MR imaging examinations corresponding to 31 subjects (27 vein of Galen malformations and 4 nongalenic AVF cases) were analyzed. Injury was observed in 8 subjects (26%) with 14 fetal examinations; the mean gestational age at identification of injury was 32.2 (SD 4.9) weeks. Structural abnormalities were present in all subjects with injury; restricted diffusion, in 5/7 subjects with available data; and T2* abnormalities, in all subjects with available data (n = 7). Radiologic progression was documented in all cases with follow-up imaging (n = 7). All subjects with fetal brain injury had a poor neonatal clinical outcome. Brain injury in fetuses with vein of Galen malformation and nongalenic AVFs shows a combination of structural abnormalities, restricted diffusion, and blooming on T2* images. Injury appears to portend a poor prognosis, with relentless progression and a likely association with adverse neonatal outcomes.

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

IntroductionAlthough endovascular techniques have improved outcomes in vein of Galen malformations (VOGM), there is still a high rate of morbidity and mortality, particularly among cases with decompensation in the neonatal...

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

BackgroundCongenital cerebral arteriovenous fistulas (AVFs), including vein of Galen malformations, presenting in infancy carry variable mortality and morbidity. This study aimed to describe the outcome of neonates with cerebral AVFs who present with refractory cardiac failure. MethodsRetrospective chart review of neonates with refractory cardiac failure due to cerebral AVFs presenting before 28 days of age in a single-center neuro-intensive care nursery over a 12-year period (2008-2020) was conducted. ResultsSeventeen neonates were included. Twelve had a vein of Galen malformation, four a non-galenic pial AVF, and one a dural AVF. Seven neonates (41%) died without receiving an embolization procedure. The remaining ten were critically ill. Seven (70%) were mechanically ventilated and on nitric oxide, 5 (50%) were on pressors, and 6 (60%) had renal and/or hepatic dysfunction. Seven (70%) had pre-existing brain injury on imaging. The first embolization procedure occurred at a median age of 4 days (range: 0-8 d). Complications included intracranial hemorrhage in 8 of 10 (80%) and seizures in 5 of 8 (62%). Five (50%) neonates who underwent embolization died. Among the 5 neonates who survived, all have motor impairment. Four (80%) developed hydrocephalus requiring a ventriculoperitoneal shunt, and 2 (40%) developed epilepsy and are nonverbal. ConclusionIn this cohort of critically ill neonates with cerebral AVF, all seven who did not receive embolization and half of ten who were treated died. The five survivors all have neurodevelopmental impairment. This information may be helpful to parents and providers who make decisions regarding life-sustaining treatments for neonates with cerebral AVFs and refractory cardiac failure.

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

Background: Mural type vein of Galen malformation (mVOGM) is a congenital high flow arteriovenous shunt between choroidal arteries and the prosencephalic vein of Markowski leading to heart failure and hydrovenous disorder in children. Embolizing fistulous connections can be challenging and typically requires adjunctive techniques such as induced hypotension, balloon-assisted flow control, and creation of a coil basket. These maneuvers add time, complexity, and unpredictability. Rapid ventricular pacing (RVP) has been proposed as an alternative strategy with fewer drawbacks, but has not been well studied. The approach involves catheterizing the right ventricle with a pacing catheter connected to a temporary external pacemaker. Prior to embolization, RVP is initiated to lower cardiac output. Following embolization, pacing is discontinued, and the heart returns to sinus rhythm. Methods: We performed RVP in five mVOGM patients from 4/2020 through 7/2021. Accounting for multiple procedures, RVP was utilized in ten cases and twenty-six pedicles. Results: Ventricular capture was achieved in all instances and was well tolerated, without arrhythmia. Casting the arterial pedicle with liquid embolic immediately adjacent to, or traversing, the fistulous point was achieved in 9/10 cases. There were no procedural complications. In 1 case, creation of a coil basket in the venous pouch was required to achieve a stable arterial cast Conclusions: This report describes the largest case series utilizing RVP in mVOGM. The technique appears safe and well tolerated.

Vascular Lesions of the Pineal Region: A Comprehensive Review of the Therapeutic Options

Vascular lesions of the pineal region comprise aneurysms of the pineal region, arteriovenous malformations, cavernous malformations, and vein of Galen malformations. In the present report, we have offered an extensive review of each vascular pineal region lesion. We performed an extensive literature review, focusing on the current therapeutic options available for the different vascular lesions of the pineal region. Vascular lesions of the pineal region are rare. Microneurosurgery remains a valid treatment of cavernomas, arteriovenous malformations, and aneurysms. Endovascular treatments seem to be the first option for the vein of Galen malformations, followed by microneurosurgery. Radiosurgery seems beneficial for small-size arteriovenous malformations. Complex and large vascular lesions will require a combination of multiple treatments. Vascular lesions of the pineal region are complex, uncommon diseases. Thus, definitive therapeutic modalities for these lesions require further research.

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

The management of newborns with vein of Galen aneurysmal malformation (VGAM) is clinically challenging for neonatologists and cardiologists. Hemodynamic profiles in four fetuses diagnosed with VGAM who subsequently developed neonatal cardiac failure and pulmonary hypertension were studied using two-dimensional and Doppler echocardiography. All four had an increased cardiothoracic ratio due to right ventricular dilatation on antenatal ultrasound. Doppler studies of the aortic isthmus were abnormal with retrograde flow starting in mid systole and throughout diastole. Left and right ventricular outputs were significantly increased. Net pulmonary flow was highly abnormal with a flow rate almost four times higher than normal. After a short period of clinical stability, all neonates developed cardiac failure and pulmonary hypertension. This article reviews VGAM pathophysiology and the potential relationship between pulmonary hypertension and VGAM, supporting early post-natal treatment of pulmonary hypertension and right ventricular failure.

Seizures in a Term Newborn.

Seizures in a Term Newborn.

Imaging of vein of Galen malformation in late trimester

Vein of Galen malformation is a rare congenital vascular malformation due to the maldevelopment of the embryonic precursor median vein of Markowski. It results in significant morbidity and mortality in a fetus and neonate. Fetal ultrasound plays an important role in prenatal screening of fetuses to rule out development anomalies. Fetal Magnetic Resonance Imaging (MRI) plays a dual role both in diagnosis and periodical follow-up with identification of prognostically important complications of vein of Galen malformation. The combination of fetal ultrasound and fetal MRI provides a definite diagnosis during pregnancy thereby providing an opportunity to plan the delivery of the fetus and subsequent postnatal treatment. We are presenting a case of a 34 y female presented at 35 w period of gestation to the ultrasound unit of our hospital.

Hydrocephalus in Vein of Galen Malformations.

Vein of Galen malformation (VOGM) is a fistulous arteriovenous malformation presenting in the early childhood. Hydrocephalus with VOGM develops in one half of patients during the course of the disease. The concept of hydrodynamic disorders is the key to understand the development of hydrocephalus. VOGM results in venous hypertension that secondarily disturbs cerebrospinal fluid (CSF) absorption leading to hydrocephalus and occurs frequently in infants and young children. The medullary veins are thought to be the main pathway for absorption of CSF by the cerebrofugal gradient act as the driving force. In neonates, the cavernous sinus is poorly developed and brain does not use it for venous drainage along with poor jugular bulb maturation results in poor venous drainage reserve. The presence of high flow vascular malformation with poor venous drainage reserve leads to hydrodynamic disorder, poor CSF absorption, and hydrocephalus. Apart from this, hydrocephalus secondary to intraventricular hemorrhage and physical obstruction of the enlarged VOGM at the aqueduct has been proposed. The management strategy is to perform timely endovascular treatment to correct the hydrodynamic disorder and avoid ventricular shunting. Trans-arterial embolization is the effective way, as it decreases flow in the malformation, secondarily the venous hypertension, and thereby improving the clinical symptoms related to hydrodynamic disorder. Ventricular diversion procedure is indicated in symptomatic hydrocephalus after exhausting our effort to reduce hydrodynamic pressure by endovascular embolization.

Abstract 1122‐000110: Transvenous Embolization in Vein of Galen Malformations as the Last Procedure

This meeting abstract was removed due to the OA licensing requirements of this journal. The full abstract is listed here : https://www.svin.org/files/SVIN_2021_Abstracts_for_Web.pdf