biostudies-literatureUnknown16Romano F<h4>Introduction</h4>Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and vein of Galen dilatation, which are considered secondary to arteriovenous malformations or arteriovenous fistulas. These entities are often sporadic but are found in association with variants of the <i>RASA1</i> and <i>EPHB4</i> genes (capillary malformation-arteriovenous malformation, CMAVM; OMIM #608354) or <i>ACVRL1, ENG,</i> and <i>SMAD4</i> genes (hereditary hemorrhagic telangiectasia, HHT; OMIM #187300). The clinical phenotypes associated with these conditions are highly variable, with incomplete penetrance and mostly dependent on the hemodynamic consequences (including heart failure and cerebral hemorrhage) or management complications rather than anatomical vascuFrontiers in genetics1430657https://www.ebi.ac.uk/biostudies/studies/S-EPMC12010119biostudies-literatureArteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.PMC12010119Tortora DRomano FMallamaci MBuratti SCastellan LScala MPiatelli GCapra VFaravelli FSeverino MDe Marco PAmico GZara FPavanello MPasetti FfalseArteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.<h4>Introduction</h4>Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and vein of Galen dilatation, which are considered secondary to arteriovenous malformations or arteriovenous fistulas. These entities are often sporadic but are found in association with variants of the <i>RASA1</i> and <i>EPHB4</i> genes (capillary malformation-arteriovenous malformation, CMAVM; OMIM #608354) or <i>ACVRL1, ENG,</i> and <i>SMAD4</i> genes (hereditary hemorrhagic telangiectasia, HHT; OMIM #187300). The clinical phenotypes associated with these conditions are highly variable, with incomplete penetrance and mostly dependent on the hemodynamic consequences (including heart failure and cerebral hemorrhage) or management complications rather than anatomical vascu2025-01-01T00:00:00Z20252026-05-26T17:05:52.611Z2025-07-03T03:04:29.032ZS-EPMC120101194025992810.3389/fgene.2025.1430657