Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

Tsutsumi, Yoshiyuki; Kosaki, Rika; Itoh, Yushi; Tsukamoto, Keiko; Matsuoka, Rumiko; Shintani, Masaki; Nosaka, Shunsuke; Masaki, Hidekazu; Iizuka, Y.

doi:10.1542/peds.2010-0961

Cited by 28 publications

(24 citation statements)

References 11 publications

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“…Whilst considerable research has been carried out on the genetics of intracerebral aneurysms [4] and arteriovenous malformations [5], there is a paucity of data on the genetic aspects of VGAM. There have been suggestions that ENG (endoglin) [6] and RASA1 [7] gene mutations may be implicated, but even in the far more common familial intracranial aneurysms, progress in identifying the genetic determinants remain at best modest [8]. In our two cases, a novel RASA1 variant was identified, but this is of uncertain significance.…”

Section: Discussionmentioning

confidence: 74%

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

Kwong¹,

Cartmill

Jaspan

et al. 2015

Childs Nerv Syst

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Section: Discussionmentioning

confidence: 74%

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

Kwong¹,

Cartmill

Jaspan

et al. 2015

Childs Nerv Syst

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“…This anomaly can also cause space occupational lesion (SOL) that may lead to progressive neurological impairment and can present with cerebral ischemic changes (6). A systolic murmur, as the first clinical manifestation of high cardiac output failure induced by CAVM after birth, has been reported by Barajas-Gamboa et al in Mexico (11).…”

Section: Discussionmentioning

confidence: 98%

“…Moreover, it is accompanied by high output heart failure and sometimes it can present with an audible cranial bruit (6,8).…”

Section: Introductionmentioning

confidence: 99%

An Unusual Cause of Heart Failure in a Newborn: Your Diagnosis?: A Case Report

Riasi

Hesari

Taheri

et al. 2017

Iran Red Crescent Med J

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Introduction: Arteriovenous malformations (AVMs) are abnormal connections between an artery and a vein whereby the interconnecting capillary network is missed. Vein of Galen is a short midline venous structure formed by the confluence of the two internal cerebral veins and the basal veins of Rosenthal and the aneurismal malformation of this vein is a congenital vascular anomaly that comprises 30% of the pediatric vascular malformations. The pathogenesis of the vein of Galen aneurysmal malformation (VGAM) is unknown. Here, we report a neonate patient with complications related to vein of Galen aneurysmal malformation. Case Presentation: A 9-day-old male neonate referred with icter, poor feeding, tachypnea, and tachycardia and was admitted to the neonatal intensive care unit (NICU) of Vali-e-Asr hospital in Birjand city, Iran, on 5th July 2016. In his chest X-ray (C-X-ray), a cardiomegaly was shown. Suspecting to congenital heart disease, a transthoracic echocardiography was performed. In echocardiography, a patent foramen ovale (PFO) with the right to left shunt, small ventricular septal defect (VSD), and tiny patent ductus arteriosus (PDA) were observed, which are the signs of heart failure. The observed heart defects in echocardiography did not justify heart failure in this patient; therefore, we decided to do brain and liver sonography for rolled/out AVM. In brain sonography, an echo-free zone in midbrain with very high turbulence flow vessel was observed that confirmed A-V malformation. Conclusions: In the infancy, VGAM is usually presented with high cardiac output failure that can be associated with multiorgan dysfunction. Since the prenatal diagnosis of VGAM and its treatment will be associated with better prognosis, intrauterine detection of this anomaly and its treatment are recommended.

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“…A feasible link between VGM and an endoglin mutation, originally identified in patients with hereditary hemorrhagic telangiectasia, was reported recently. 18 Other studies focusing on the genetics of VGM describe an anomaly of the RASA1 gene, which is associated with capillary malformation AVM. 19 Recent investigations of Caroli disease, on the other hand, showed an NPHP3 mutation in a patient presenting with Caroli disease, leading to the assumption that Caroli disease is a ciliopathy.…”

Section: Figurementioning

confidence: 99%

Caroli Disease Associated With Vein of Galen Malformation in a Male Child

et al. 2014

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We report the first case of a male child with both Caroli disease and vein of Galen malformation. The neonate presented to our department with congestive heart failure as a result of the intracranial arteriovenous high-flow shunt. Over time, several endovascular embolizations led to a complete angiographic occlusion of the shunt. Additionally, the diagnosis of Caroli disease was made at the age of 2 months. He developed choledocholithiasis necessitating endoscopic sphincterotomy and stone extraction. As a prolonged medical treatment he received ursodeoxycholic acid and antibiotics. A coincidence of Caroli disease and vein of Galen malformation has not yet been described. Both diseases are very rare, leading to the question of whether there is a link in the pathogenesis. Based on the few previously described underlying mechanisms, we develop hypotheses about the relationship between both rare diseases. We consider overexpression of vascular endothelial growth factor and its receptors as a possible common molecular mechanism in their pathogenesis. We also highlight the critical role of increased expression of the Notch ligand Jagged 1 both in the development of cerebral arteriovenous malformations in general and in the formation of dilated intrahepatic bile ducts (eg, in Caroli disease).

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Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

Cited by 28 publications

References 11 publications

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence

An Unusual Cause of Heart Failure in a Newborn: Your Diagnosis?: A Case Report

Caroli Disease Associated With Vein of Galen Malformation in a Male Child

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