title: Vein of Galen aneurysmal malformation associated with an endoglin gene mutation.
abstract: A child with vein of Galen aneurysmal malformation (VGAM) presented with cardiac failure in the neonatal period. The family history revealed his mother to have hereditary hemorrhagic telangiectasia. The child underwent an endoglin genetic analysis after the newborn period, which eventually demonstrated an endoglin mutation. The pathogenesis of VGAM is currently unknown. The findings of this case suggest that an endoglin mutation might be linked with VGAM.
authors: Department of Radiology, National Center for Child Health and Development, Tokyo, Japan. tsutsumi-y@ncchd.go.jp
authors: Yoshiyuki
authors: Y
authors: Tsutsumi
authors: Rika
authors: R
authors: Kosaki
authors: Yushi
authors: Y
authors: Itoh
authors: Keiko
authors: K
authors: Tsukamoto
authors: Rumiko
authors: R
authors: Matsuoka
authors: Masaki
authors: M
authors: Shintani
authors: Shunsuke
authors: S
authors: Nosaka
authors: Hidekazu
authors: H
authors: Masaki
authors: Yuo
authors: Y
authors: Iizuka
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D002533:Cerebral Angiography / Q000379:methods; D002550:Cerebral Veins / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004621:Embolization, Therapeutic / Q000379:methods*; D000071063:Endoglin; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D002532:Intracranial Aneurysm / Q000000981:diagnostic imaging / Q000628:therapy; D018810:Magnetic Resonance Angiography / Q000379:methods; D008297:Male; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics*; D018570:Risk Assessment; D013997:Time Factors; D016896:Treatment Outcome; D054080:Vein of Galen Malformations / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface