State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformations

Abstract

Vein of Galen aneurysmal malformation (VGAM) is a severe rare vascular anomaly whose prognosis depends on cerebral and cardiac consequences that can be hard to diagnose, let alone predict in utero. We performed an updated review to summarize current research on the genetics, ultrasound and MRI of VGAM that could help in the diagnosis and management of VGAM. Prenatal diagnosis of VGAM has greatly improved in recent years. Ultrasound allows in utero detection of VGAM in most cases now and is the best exam for prenatal cardiac evaluation. Tricuspid insufficiency is the only cardiac feature associated with poor prognosis. Cardiomegaly may indicate a risk of cardiac failure at birth and should prompt discussion of birth in a specialized facility. Ultrasound can identify constituted cerebral lesions, but MRI diagnoses early signs of cerebral hemodynamic changes, notably through the detection of pseudo-feeders. Genetic exploration should be proposed after VGAM diagnosis. Ultrasound and MRI are essential complementary tools for the diagnosis of VGAM, but also for prognostic evaluation, and provide information for the counseling of parents and optimal management of the pregnancy. Key points What's already known about this topic?� Diagnosis of Vein of Galen aneurysmal malformation (VGAM) can be made in utero. � Prognosis depends on cardiac and cerebral consequences.� Embolization treatment morbidity decreases with age in neonates. What does this review add?� What to expect from ultrasound and MRI for diagnosis and prognosis.� How to manage pregnancy and delivery.� When and what genetic disorders to search for.Vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation affecting less than one birth in 25,000. 1 However, it is the most common congenital vascular malformation and accounts for 30% of all pediatric vascular anomalies. 2 The onset of VGAM occurs during the choroidal stage between 8 and 11 weeks of gestation 3,4 and results from the abnormal persistence of Markowski's vein 3 or the median prosencephalic vein. Some genetic causes have been recently identified in VGAM including RASA1 and EPHB4, two genes encoding proteins essential in vascular development.

Direct Transverse Sinus Puncture for Transvenous Coil Embolization of Vein of Galen Malformations: Innovating Existing Techniques

“…Endovascular innovation has dramatically improved patient prognosis in VOGM as compared with open surgical approaches, marked by high mortality. 1,7,8,14 Current treatment is largely endovascular, with approaches including transarterial or transvenous embolization with a combination of detachable coils or liquid embolisates. 8 Earlier series have a higher frequency of reporting exclusive transvenous interventions compared with modern literature, with greater reports of venous thrombosis, hemorrhage, and consumptive coagulopathy in exclusive transvenous embolization.…”

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

“…The role of fetal echocardiography in VGAM prenatal evaluation is well-known for the assessment of cardiomegaly, and other signs of HF progression and for excluding possible associated morphological cardiac abnormalities. Cardiomegaly and tricuspid regurgitation seem to be relevant to anticipate the level of haemodynamic impairment at birth and have been related to prognosis ( 2 , 12 , 25 ). In our cohort although tricuspid regurgitation, dilation of SVC, and reversal diastolic flow across the aortic isthmus were frequent findings in newborns with heart failure, only fetal cardiothoracic ratio was associated with severe HOHF and mortality.…”

“…Pregnant women carrying fetuses with VGAM follow a defined clinical pathway. Antenatal diagnosis is most often made during the third trimester ultrasound scan, less often in the second trimester ( 2 ). VGAM features, onset and progression of cerebral and/or haemodynamic complications are monitored by means of fetal ultrasound, brain MRI and serial echocardiography.…”

“…It represents less than 1% of pediatric malformations, but it is the most frequent intracranial arteriovenous malformation in children. Incidence is about 1 out of 25,000 deliveries (2). A genetic background has been recently identified in VGAM patients, including mutations of RASA1 (RASp21 Protein Activator 1) and EPHB4 (Ephrin type-B receptor 4), genes encoding proteins involved in vascular development (3)(4)(5).…”