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

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 manag...

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Autores principales: Tas, Berivan, Starnoni, Daniele, Smajda, Stanislas, Vivanti, Alexandre J., Adamsbaum, Catherine, Eyries, Mélanie, Melki, Judith, Tawk, Marcel, Ozanne, Augustin, Revencu, Nicole, Soubrier, Florent, Siala, Selima, Vikkula, Miikka, Deiva, Kumaran, Saliou, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081809/
https://www.ncbi.nlm.nih.gov/pubmed/35547535
http://dx.doi.org/10.3389/fped.2022.871565
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author Tas, Berivan
Starnoni, Daniele
Smajda, Stanislas
Vivanti, Alexandre J.
Adamsbaum, Catherine
Eyries, Mélanie
Melki, Judith
Tawk, Marcel
Ozanne, Augustin
Revencu, Nicole
Soubrier, Florent
Siala, Selima
Vikkula, Miikka
Deiva, Kumaran
Saliou, Guillaume
author_facet Tas, Berivan
Starnoni, Daniele
Smajda, Stanislas
Vivanti, Alexandre J.
Adamsbaum, Catherine
Eyries, Mélanie
Melki, Judith
Tawk, Marcel
Ozanne, Augustin
Revencu, Nicole
Soubrier, Florent
Siala, Selima
Vikkula, Miikka
Deiva, Kumaran
Saliou, Guillaume
author_sort Tas, Berivan
collection PubMed
description 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 long-term outcome. RESULTS: One hundred and fifteen children were included. Autosomal dominant variants were identified in 39% of patients. The most frequent variant affected was the RASA1 gene (25%) followed by EPHB4 (8%) and the HHT-associated genes (5%). HHT gene variants were only observed in pial arteriovenous fistula not draining into the vein of Galen; on the contrary, EPHB4 variants were only seen in genuine vein of Galen aneurysmal malformation. RASA1 variants were identified in all types of shunts. CONCLUSIONS: EPHB4 variants seem specific to the vein of Galen aneurysmal malformation, RASA1 variants are associated with either pial arteriovenous fistulas or with genuine VGAM and HHT gene variants seem specific to pial arteriovenous fistulas. The genetic data helps to classify these malformations and to guide treatment toward lowest risk of post-operative cerebral ischemic-hemorrhagic complications.
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spelling pubmed-90818092022-05-10 Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype Tas, Berivan Starnoni, Daniele Smajda, Stanislas Vivanti, Alexandre J. Adamsbaum, Catherine Eyries, Mélanie Melki, Judith Tawk, Marcel Ozanne, Augustin Revencu, Nicole Soubrier, Florent Siala, Selima Vikkula, Miikka Deiva, Kumaran Saliou, Guillaume Front Pediatr Pediatrics 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 long-term outcome. RESULTS: One hundred and fifteen children were included. Autosomal dominant variants were identified in 39% of patients. The most frequent variant affected was the RASA1 gene (25%) followed by EPHB4 (8%) and the HHT-associated genes (5%). HHT gene variants were only observed in pial arteriovenous fistula not draining into the vein of Galen; on the contrary, EPHB4 variants were only seen in genuine vein of Galen aneurysmal malformation. RASA1 variants were identified in all types of shunts. CONCLUSIONS: EPHB4 variants seem specific to the vein of Galen aneurysmal malformation, RASA1 variants are associated with either pial arteriovenous fistulas or with genuine VGAM and HHT gene variants seem specific to pial arteriovenous fistulas. The genetic data helps to classify these malformations and to guide treatment toward lowest risk of post-operative cerebral ischemic-hemorrhagic complications. Frontiers Media S.A. 2022-04-25 /pmc/articles/PMC9081809/ /pubmed/35547535 http://dx.doi.org/10.3389/fped.2022.871565 Text en Copyright © 2022 Tas, Starnoni, Smajda, Vivanti, Adamsbaum, Eyries, Melki, Tawk, Ozanne, Revencu, Soubrier, Siala, Vikkula, Deiva and Saliou. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Tas, Berivan
Starnoni, Daniele
Smajda, Stanislas
Vivanti, Alexandre J.
Adamsbaum, Catherine
Eyries, Mélanie
Melki, Judith
Tawk, Marcel
Ozanne, Augustin
Revencu, Nicole
Soubrier, Florent
Siala, Selima
Vikkula, Miikka
Deiva, Kumaran
Saliou, Guillaume
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title_full Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title_fullStr Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title_full_unstemmed Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title_short Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype
title_sort arteriovenous cerebral high flow shunts in children: from genotype to phenotype
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081809/
https://www.ncbi.nlm.nih.gov/pubmed/35547535
http://dx.doi.org/10.3389/fped.2022.871565
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