Vein of Galen Aneurysmal Malformation: Neonatal Management Challenges

A male neonate, born to non-consanguineous parents with no relevant family medical history, was diagnosed prenatally with VGAM at 29 weeks of gestation via obstetric ultrasonography, subsequently confirmed by fetal MRI (Figure 1). Fetal echocardiography demonstrated findings consistent with moderate HOHF. Given the severity of the condition, medical termination of pregnancy was proposed but declined by the parents. The pregnancy was thereafter monitored with twice-weekly ultrasonography. Due to progressive worsening of the fetal cardiac status, an elective cesarean delivery was performed at 38 weeks of gestation, with a plan for early postnatal endovascular treatment. For this purpose, the umbilical artery was cannulated immediately after birth to allow vascular access.

At birth, Apgar scores were seven, eight, and eight at one, five, and 10 minutes, respectively. The neonate required immediate resuscitation, including endotracheal intubation. Anthropometric measurements were appropriate for gestational age. Physical examination revealed a cranial bruit audible over the anterior fontanelle. Postnatal cranial ultrasonography and contrastenhanced brain MRI (CE-MRI) demonstrated a large choroidal-type aneurysmal dilation predominantly supplied by the left posterior cerebral artery and bilateral choroidal arteries (Figure 2).

On day one, the newborn exhibited signs of HOHF, including right heart chamber dilation, increased flow through the superior vena cava, features of pulmonary hypertension, and diastolic retrograde flow in the descending aorta (Figure 3).

He required invasive mechanical ventilation and was initiated on analgesia and inotropic support with dopamine. The Bicêtre score was nine, indicating the need for urgent endovascular embolization. Embolization of the left posterior cerebral artery was performed via umbilical arterial catheterization using both coil deployment and Onyx injection (Figure 4).

The Bicêtre score is a clinical assessment tool developed to guide the management of neonates with VGAM. It evaluates the functional status of multiple organ systems, including cardiac, respiratory, hepatic, neurological, and general condition, with scores ranging from 0 to 21. Higher scores indicate greater clinical stability and eligibility for endovascular treatment (Table 1) [8].

Despite the procedure, echocardiography on day three showed persistent right-sided cardiac overload, prompting initiation of anti-congestive therapy. A repeat CE-MRI that day demonstrated reduced arterial inflow to the malformation, though complete occlusion had not been achieved. A second embolization was therefore performed on day eight (Figure 4).

Following the second procedure, gradual clinical and echocardiographic improvement in right heart overload was observed, consistent with decreased arteriovenous shunting. On day 11, CE-MRI showed reduced aneurysmal dilation but revealed areas of acute ischemia involving the left thalamus and posterior, predominantly left-sided, corpus callosum, attributed to procedural complications. The infant was discharged on day 44 on furosemide and spironolactone, with a final Bicêtre score of 16. At three months of age, the patient exhibited appropriate psychomotor development, though weight gain remained insufficient. Echocardiography continued to show cardiomegaly, but ventricular function was preserved. CE-MRI demonstrated further reduction in aneurysmal dilation; however, the arteriovenous shunt persisted, accompanied by progressive hydrocephalus.

At five months of age, during evaluation for an intercurrent viral respiratory infection, markedly prominent scalp veins and worsening hydrocephalus were noted on cranial ultrasonography. Repeat CE-MRI confirmed persistent aneurysmal dilation, now predominantly supplied by the right posterior cerebral artery and the anterior choroidal artery, along with hydrocephalus and left cerebellar tonsillar herniation (Figure 2). The patient underwent urgent re-embolization of the main feeding arteries using Onyx and coils, following selective catheterization of the left vertebral and posterior cerebral arteries (Figure 4). Postoperative recovery was complicated by prolonged mechanical ventilation requirements. Despite hemodynamic stability without vasopressor support, the infant developed hospital-acquired pneumonia progressing to Acute Respiratory Distress Syndrome (ARDS) and sepsis, culminating in multiorgan failure and death one month after the procedure, at six months of age.

Lasjaunias’ classification describes two primary types of VGAM: the choroidal type-by far the most common (56–76% of cases)-and the mural type. The choroidal type typically affects male neonates, features multiple arterial feeders forming a complex vascular network, and produces high-flow shunts that frequently lead to HOHF, as seen in our case. In contrast, the mural type is less common, has a more favorable prognosis, and typically presents later in infancy with milder symptoms. Heart failure, when present in mural VGAM, is generally mild and asymptomatic [1-4,8,9]. According to the literature, if left untreated, this malformation is associated with near 100% morbidity and mortality, particularly in newborns [3]. Clinical presentation is predominantly agedependent, with prognosis closely linked to both the age of symptom onset and the severity of heart failure. The manifestations encompass a wide clinical spectrum, ranging from minimal signs to overt cardiogenic shock. Notably, earlier clinical manifestation is consistently associated with a less favorable outcome [2].

In the presented case, we were faced with an early manifestation of prenatal heart failure which, despite the absence of brain lesions, may be associated with a mortality rate of approximately 80%, leading some authors to consider pregnancy termination as an acceptable option [1,2]. Prenatal ultrasonography, complemented by fetal MRI, is critical for early diagnosis and delivery planning at a specialized center equipped with neonatal intensive care and interventional neuroradiology resources. [6,9,10] Despite advancements in prenatal imaging, VGAM should remain a differential diagnosis in any neonate presenting with unexplained HOHF refractory to medical therapy or with unexplained hydrocephalus.

Early medical management of congestive heart failure and fluid status (diuretics, vasodilators and inotropic agents) is essential for stabilizing neonates prior to definitive intervention and for addressing multiorgan dysfunction [3,11]. Once admitted to the Neonatal Intensive Care Unit, the newborn should undergo continuous monitoring and evaluation with echocardiography, cranial ultrasound, CE-MRI to identify any previously undetected brain lesions, and MR angiography to delineate the anatomy of the VGAM and guide therapeutic planning. Although the immediate clinical priority is the management of HOHF, VGAM is also associated with significant neurological comorbidities, including encephalopathy, hydrocephalus, seizures, and developmental delay [1].

Ventriculoperitoneal shunting is not typically performed in cases of VGAM because it carries a high risk of serious complications and does not address the underlying pathophysiology of the malformation. VAGM-associated hydrocephalus is primarily due to hydrovenous congestion from the high-flow arteriovenous shunt, not a primary CSF circulation problem. Direct CSF diversion can precipitate acute neurological deterioration, including status epilepticus, intraventricular hemorrhage, subdural hematoma, venous infarction, and worsening developmental delay, as well as increased mortality, as demonstrated in pediatric case series and literature reviews [8,12,13].

Endovascular embolization (selective occlusion of feeder vessels using coils or liquid embolic agents) remains the treatment of choice and urgent intervention is performed in cases of cardiac heart failure, developmental delay or regression, and ischemic signs on imagery. Otherwise, the treatment should be delayed to 5 or 6 months of age for better results [14,15]. The use of the Bicêtre score, developed by Lasjaunias and colleagues, supports appropriate patient selection and helps guide the timing of intervention (Table 1) [8]. According to this scoring system, our patient achieved a score of nine out of 21, placing him in the category requiring urgent endovascular intervention. A Bicêtre score ≤12, and especially a value as low as nine, is strongly associated with unfavorable outcomes, including early neonatal mortality, as demonstrated in contemporary cohorts from the United Kingdom and European tertiary centers [5,16]. A meta-analysis of outcomes following embolization of VGAM demonstrated that studies employing the Bicêtre neonatal evaluation score for patient selection reported higher rates of favorable neurological outcomes compared to those that did not. Although this is a validated tool, it presents certain limitations and, therefore, should not be used as the sole basis for decision-making but rather in conjunction with clinical assessment and neuroimaging findings [11,17,18].

Table 1:Bicêtre Score for the evaluation of neonatal arteriovenous malformations.

^a EEG: Eletroencephalogram, bFiO2: Fraccional inspired oxygen; Maximal score: 5 (cardiac) + 5 (cerebral) + 5 (respiratory) + 3 (hepatic) + 3 (renal) = 21

The presence of HOHF, often accompanied by pulmonary hypertension and the need for inotropic support, is an additional negative prognostic marker [19-22]. Optimal management involves aggressive hemodynamic stabilization and, when possible, early endovascular embolization, which can improve survival but does not eliminate the high risk of mortality and severe neurological morbidity. For the profile described (prenatal diagnosis, high output heart failure, Bicêtre score nine), the risk of neonatal mortality is extremely high, often above 70% in the best contemporary series [5,15,16,19,22,23].

In the context of VGAM, endovascular embolization often necessitates multiple sessions to attain satisfactory results. Importantly, the primary objective of embolization is not complete occlusion of the malformation, but rather achieving a sufficient reduction in arteriovenous shunting to enable hemodynamic stabilization and mitigate the risk of progressive neurological deterioration [18,24-27].

Early postnatal care must include a multidisciplinary team involving neonatologists, obstetricians, pediatric cardiologists, neurologists, and interventional neuroradiologists. In this case, timely prenatal diagnosis enabled coordinated perinatal planning, allowing for prompt supportive care and eventual successful intervention.

This case underscores the importance of prenatal identification of VGAM and the complexities of neonatal management. VGAM is a rare but severe cerebral arteriovenous malformation associated with high neonatal mortality rates in the absence of treatment. It predominantly presents in neonates with high-output cardiac failure, often complicated by pulmonary hypertension and multiorgan dysfunction. Prenatal detection of VGAM is critical for early diagnosis and strategic perinatal management through a multidisciplinary approach. Endovascular embolization of the arterial feeders using coils or liquid agents is the preferred therapeutic approach for VGAM, frequently necessitating multiple sessions to achieve adequate occlusion. Advances in neonatal intensive care and endovascular therapy have improved survival outcomes and reduced morbidity among affected patients.

All authors have reviewed the final version to be published and agreed to be accountable for all aspects of the work.

Ricardo Liz Almeida, Elisa Proença
Acquisition, analysis, or interpretation of data: Ricardo Liz Almeida, João Xavier, Cláudio Henriques, Luís Guedes-Martins, Elisa Proença

Ricardo Liz Almeida
Critical review of the manuscript for important intellectual content: João Xavier, Cláudio Henriques, Luís Guedes-Martins, Elisa Proença
Supervision: Elisa Proença

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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