Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.

ABSTRACT:

Objective

To study the genotypes and phenotypes of cerebral arteriovenous fistulas that drain or do not drain through the vein of Galen, and true vein of Galen aneurysmal malformations, in order to determine whether genotyping could help improve classification of these malformations and their management.

Methods

We carried out a retrospective review of genetic and phenotypic data in databases of four centers. All children with cerebral arteriovenous fistula or vein of Galen aneurysmal malformations aged below 18 years at onset were included. We recorded the nature of the genetic variant or absence of variant, age at onset, type of malformation, symptoms at onset (hemorrhage, neurological deficit, hydrocephalus, incidental, and heart failure), type of venous drainage and the

SUBMITTER: Tas B 

PROVIDER: S-EPMC9081809 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature