True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene

We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition...

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Autores principales: Shalhub, Sherene, Hysa, Lisa, Byers, Peter H., Meissner, Mark H., Ferreira, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411016/
https://www.ncbi.nlm.nih.gov/pubmed/34504985
http://dx.doi.org/10.1016/j.jvscit.2021.02.001
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author Shalhub, Sherene
Hysa, Lisa
Byers, Peter H.
Meissner, Mark H.
Ferreira, Manuel
author_facet Shalhub, Sherene
Hysa, Lisa
Byers, Peter H.
Meissner, Mark H.
Ferreira, Manuel
author_sort Shalhub, Sherene
collection PubMed
description We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein bypass graft. Analysis of the intracranial artery aneurysm and affected skin demonstrated a somatic mutation in the platelet-derived growth factor receptor-β gene. Mosaicism was present in the RAA but not in the great saphenous vein. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic test results are unrevealing.
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spelling pubmed-84110162021-09-08 True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene Shalhub, Sherene Hysa, Lisa Byers, Peter H. Meissner, Mark H. Ferreira, Manuel J Vasc Surg Cases Innov Tech Case Report We have presented the case of a right radial artery aneurysm (RAA) in a 27-year-old man with cerebral and coronary artery aneurysms and features of Parkes-Weber syndrome (port-wine stains and right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein bypass graft. Analysis of the intracranial artery aneurysm and affected skin demonstrated a somatic mutation in the platelet-derived growth factor receptor-β gene. Mosaicism was present in the RAA but not in the great saphenous vein. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic test results are unrevealing. Elsevier 2021-02-26 /pmc/articles/PMC8411016/ /pubmed/34504985 http://dx.doi.org/10.1016/j.jvscit.2021.02.001 Text en © 2021 Published by Elsevier Inc. on behalf of Society for Vascular Surgery. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Shalhub, Sherene
Hysa, Lisa
Byers, Peter H.
Meissner, Mark H.
Ferreira, Manuel
True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title_full True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title_fullStr True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title_full_unstemmed True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title_short True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
title_sort true radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411016/
https://www.ncbi.nlm.nih.gov/pubmed/34504985
http://dx.doi.org/10.1016/j.jvscit.2021.02.001
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