Relevancia clínica del diagnóstico ecográfico de la malformación aneurismática en la vena de Galeno / Clinical relevance of ultrasound diagnosis of Vein of Galen aneurysmal malformation

Introducción: La malformación aneurismática en la vena de Galeno es infrecuente, pero tiene alta mortalidad en neonatos. Objetivo: Examinar la relevancia clínica del diagnóstico ecográfico de la malformación aneurismática en la vena de Galeno Métodos: Investigación observacional, prospectiva y transversal realizado en el Cardiocentro William Soler. (noviembre 1999-diciembre 2016) La muestra la conformaron 18 neonatos con diagnóstico de malformación aneurismática en la vena de Galeno variedad coroidea mediante ecografía doppler. Se configuraron dos grupos de referencia: 1) 70 niños supuestamente sanos. 2) 73 niños con malformación de la vena Galeno de diferente naturaleza que la variante coroidea estudiada. El procesamiento de la información incluyó elementos de estadística inferencial y herramientas de la medicina basada en la evidencia. Resultados: La presencia de fallo cardíaco neonatal, signos electrocardiográficos de isquemia miocárdica y detección de soplo continuo transcraneal, fueron significativamente diferentes en el grupo de estudio en relación con el grupo de referencia (p= 0,000001), con predominio en el número de pacientes del grupo estudio en todas las variables. Los resultados anteriores conjugados con diversos hallazgos ecográficos: la dilatación anómala de la vena, exceso de vasculatura aferente, reducción de los índices circulatorios encefálicos e incremento en los diámetros vasculares supraaórticos, identificaron de forma precisa la malformación aneurismática en la vena de Galeno. La evaluación del riesgo relativo reafirmó la documentación de los hallazgos expuestos. Conclusiones: La ecografía doppler, por su relevancia clínica y vínculo con otros elementos diagnósticos, es mandatoria en la detección de la malformación aneurismática en la vena de Galeno(AU)

Introduction: Vein of Galen aneurysmal malformation is not frequent but it has high mortality rates in newborns. Objective: To assess the clinical relevance of ultrasound diagnosis of Vein of Galen aneurysmal malformation. Methods: Observational, prospective and cross-sectional research conducted in William Soler Cardiocentro (November 1999- December 2016). The sample was formed by 18 newborns with diagnosis of Vein of Galen aneurysmal malformation (choroidal variety) through doppler echocardiography. Two reference groups were formed: 1) 70 supposedly healthy children; 2) 73 children with Vein of Galen malformation with a nature different to the studied choroidal variety. Processing of the information included elements of inferential statistics and tools from medicine based in evidences. Results: The presence of neonatal heart failure, electrocardiographic signs of myocardial ischemia and detection of transcranial continuous murmur were significantly different in the study group in relation with the reference group (p= 0,000001), with predominance in the number of patients of the study group in all the variables. The previous results combined with different ultrasound findings as the anomalous dilation of the vein, the excess of afferent vasculature, the reduction of encephalic circulation indexes and the increase of the supraaortic vascular diameters identified in a precise way the vein of Galen aneurysmal malformation. The assessment of the relative risk reaffirmed the information on the exposed findings. Conclusions: Doppler echography, due to its clinical importance and its links with other diagnostic elements, is mandatory in the detection of the vein of Galen aneurysmal malformation(AU)

Long-term outcome of vein of Galen malformation.

AIM: To describe the long-term outcomes of children by the time they reached school age with vein of Galen aneurysmal malformation (VGAM). METHOD: This was a retrospective observational study on a consecutive cohort of patients with VGAM. We included patients with at least one Francophone parent, aged between 6 and 11 years at the time of long-term evaluation. The neurological outcome was assessed with the King's Outcome Scale for Childhood Injury score and eight neurological and behavioural items from the Rivermead Postconcussion Symptoms questionnaire. RESULTS: All 52 patients (17 females, 32 males [data missing for n=3]) with at least one Francophone parent (5 fetuses and 47 children) were included. At the long-term evaluation time-point, 33 patients were alive and 19 patients had died. Risk of postnatal death was associated with severe neonatal cardiac failure (p=0.007) or isosystemic or suprasystemic pulmonary hypertension (p=0.014). Among survivors, 19 had a good outcome with normal schooling and 14 had a poor outcome. Moreover, among the good outcome patients, a large proportion had neurodevelopmental alterations. INTERPRETATION: Long-term outcome of patients with VGAM appears to be less favourable than outcome described at the short- and medium-term, even in the absence of encephalomalacia at birth. Even patients with good outcome often have neuropsychological disorders that may have repercussions on learning and requiring appropriate rehabilitation or medical management. WHAT THIS PAPER ADDS: Long-term outcome appears to be less favourable than described at short- and medium-term follow-up. Even patients with good outcome at these time-points often have minor neuropsychological disorders.

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

OBJECTIVE: Vein of Galenaneurysmal malformation (VGAM) is a rare but important congenital malformation presenting to neonatal intensive care units (NICUs), and with a change from surgical to endovascular management, survival for this condition has improved. However, there is little reported about the medical management decisions of infants with this condition and the associated long-term neurodevelopmental outcomes. We aim to report a single centre experience of both acute treatment and long-term outcomes of VGAM for those infants admitted to our NICU soon after birth. DESIGN: Retrospective cohort study over a 15-year period from 2001 to 2015 inclusive. SETTING: A quaternary NICU at The Royal Children's Hospital, Melbourne, Australia. PARTICIPANTS: 24 newborn infants referred for management of VGAM. There were no eligibility criteria set for this study; all presenting infants were included. INTERVENTIONS: None. MAIN OUTCOMES MEASURES: Clinical neuroimaging data were gathered. Surviving children were formally assessed with a battery of tests administered by a neuropsychologist and occupational therapist/physiotherapist at various ages across early to middle childhood. RESULTS: Fifteen neonates with VGAM did not survive beyond their NICU admission. 10 of these were not offered endovascular intervention. Of the nine surviving infants, only one had a normal neurodevelopmental outcome. CONCLUSIONS: The mortality of VGAM presenting in the neonatal period was high, and rates of normal neurodevelopmental outcome for survivors were low. These findings contribute to our understanding of which neonates should be treated and highlights the importance of providing clinical neurodevelopmental follow-up to survivors beyond their infant years.

The natural progression of VGAMs and the need for urgent medical attention: a systematic review and meta-analysis.

BACKGROUND: Vein of Galen aneurysmal malformations (VGAMs) are congenital disorders that may require emergency treatment and some may cause sudden death before medical attention is provided. Some patients also have a spontaneous thrombosis. OBJECTIVE: To understand the natural progression of VGAMs through a systematic literature review. METHODS: We examined PubMed to identify studies published between July 1973 and March 2015. We determined the proportion of patients with VGAM who died before receiving medical attention, who received emergency treatment, or had a spontaneous thrombosis. We pooled estimates of proportions with corresponding 95% CIs calculated using the raw (ie, untransformed) proportions. RESULTS: The 31 studies obtained described the outcome of 754 patients with VGAM. The probability of sudden death risk was 4% (95% CI 1% to 7%; I2=51.6%); of an emergency operation was 46% (95% CI 34% to 58%; I2=93.2%); and of spontaneous thromboses 1% (95% CI 0% to 2%; I2=0%) of cases. Differences between age and clinical outcomes of patients with spontaneous thromboses were significant according to the rank test (Mann-Whitney U test, Z=-2.398, p=0.016), both having a linear correlation (χ2 test, p=0.022). CONCLUSIONS: Over time, the rate of preoperative sudden death in patients with VGAM gradually declined and the rate of emergency operations gradually increased. The outcome of patients with early spontaneous thromboses was good. Our study provides a definitive description of the natural progression of VGAMs and the need for urgent medical attention.

Hidden mortality of prenatally diagnosed vein of Galen aneurysmal malformation: retrospective study and review of the literature.

OBJECTIVE: To evaluate the prognosis of prenatally diagnosed vein of Galen aneurysmal malformation (VGAM) in a large cohort with this condition and to review the literature on prenatally diagnosed VGAM. METHODS: This was a retrospective study of all cases of prenatally diagnosed VGAM managed in our referral center during a 12-year period. VGAM was categorized as being either isolated or associated with any other abnormality, based on fetal ultrasound and magnetic resonance imaging findings. Poor outcomes comprised termination of pregnancy with confirmation of antenatal findings, perinatal death and severe cardiac and/or neurological impairment in survivors. The literature was also reviewed for similar cases. RESULTS: Twenty-one cases of prenatally diagnosed VGAM were managed in our center. Four (19.0%) cases were isolated and 17 (81.0%) were associated with other anomalies. There were nine terminations (42.9%) and six neonatal deaths (28.6%). Six children (28.6%) were still alive at last follow-up, of whom three had abnormal neurological development. VGAM associated with other anomalies was strongly associated with a poor outcome compared with isolated forms (P < 0.0001). One hundred and nine cases from the literature were also reviewed. CONCLUSION: Fetuses with prenatally diagnosed VGAM have unexpectedly poor outcomes in the presence of cardiac or cerebral anomalies, while those with strictly isolated VGAM tend to have more favorable outcomes. Our literature review corroborates these findings.

Endovascular treatment of vein of Galen aneurysmal malformation: management strategy and 21-year experience in Toronto.

OBJECT: The treatment of vein of Galen aneurysmal malformation (VGAM) is among the most challenging of all the neurovascular disorders. METHODS: Between 1984 and 2005, 26 consecutive patients with VGAMs were treated by the authors' group, and their data were prospectively collected; 12 patients presented with congestive heart failure (CHF) and 10 had hydrocephalus. Five patients did not undergo endovascular treatment because of minimal symptoms or severe comorbidities. Twelve patients underwent embolization for refractory CHF requiring ventilation: 7 of these 12 patients had the procedure in the neonatal stage (5 survived), and 5 were treated in infancy or childhood following successful aggressive medical treatment (4 survived). The other 9 patients underwent endovascular surgery to treat a progressively enlarging head circumference; there was imaging evidence of ventricular enlargement and/or signs of developmental delay (6 underwent surgery in infancy and 3 in childhood; 1 patient died). RESULTS: The survival rate in this series was 76.9% (20 of 26). Fourteen (66.7%) of 21 patients who underwent endovascular treatment had no developmental delay. An analysis of various factors demonstrated that comorbidities and embolization effect (procedure success and long-term effect) were prognostic factors of survival. In addition, the patient's age at embolization was significantly higher in those with developmental delay than in those without (559.86 ± 535.43 days vs 94.83 ± 95.77 days, respectively; p = 0.028). CONCLUSIONS: The authors conclude that neonatal VGAMs can be treated successfully with a strategic approach integrating antenatal diagnosis, endovascular surgery, treatment at intensive care facilities, and the cooperative efforts of different specialties. In the authors' experience, patients in whom VGAM was diagnosed and managed in infancy or childhood had more than 90% long-term survival.

Evolution of treatment options for vein of Galen malformations.

OBJECT: Vein of Galen aneurysmal malformations (VGAMs) continue to account for high morbidity and mortality rates in the pediatric population. Whereas in the past, mortality rates were nearly 100%, recent developments in endovascular embolization and improvements in neonatal care have improved prognoses. It is now possible that some patients can achieve normal neurological development following embolization of the VGAM. Access to the lesion can be gained via transarterial or transvenous routes. In this paper the authors review the pathophysiological characteristics of VGAM and discuss the evolution of treatment options. METHODS: A PubMed literature search was performed for vein of Galen malformation treatment options, beginning in the 1970s. A total of 22 papers were reviewed in full, and outcome data for 615 patients from 1983 to 2010 were compiled. Articles were reviewed if they focused primarily on the treatment of VGAM and reported outcomes for at least 5 treated patients. RESULTS: Of the 265 patient outcomes reported between 1983 and 2000, 200 received endovascular therapy. Of these patients 72% had a favorable outcome, and a 15% mortality rate was found. Microsurgery was found to have an 84.6% mortality rate. Furthermore, 76.7% of untreated patients died. More recently, endovascular embolization has become the mainstay of VGAM treatment. Of the 350 patients assessed between 2001 and 2010, 337 were treated endovascularly, mostly via the transarterial approach. Of these patients, 84.3% were found to have good or fair outcomes, and a 15.7% mortality rate was found. Neonates had the worst clinical outcomes following endovascular treatment, with a 35.6% mortality rate, whereas infants and children had significantly better outcomes, with mortality rates of 6.5% and 3.2%, respectively. CONCLUSIONS: Endovascular embolization has considerably improved outcomes in patients with VGAM. In the past, the prognosis for patients with VGAM was dismal, and successful procedures were considered to be those that partially or completely obliterated the lesion, but did not necessarily improve the patient's symptoms. More recently, with the continued development and improvement of endovascular techniques, many patients are found to be neurologically normal on follow-up, and mortality rates have dropped substantially when compared with microsurgical treatment.

Is prenatal volumetric evaluation of aneurysm of the vein of Galen important in the prediction of adverse fetal outcome?

Aneurysm of the vein of Galen is a rare congenital vascular malformation of the central nervous system. There are controversies in the literature regarding the possible prognostic value of aneurysmal volume estimation with 3-dimensional US for the prediction of fetal outcome. In this report, we present a case of prenatally diagnosed large aneurysm of the vein of Galen complicated by heart failure in a fetus. The volume of the malformation was calculated as 17.8 cm(3) and the fetal outcome was poor.