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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Main Authors:	Sherene Shalhub, MD, MPH, Lisa Hysa, BS, Peter H. Byers, MD, Mark H. Meissner, MD, Manuel Ferreira, Jr., MD, PhD
Format:	Article
Language:	English
Published:	Elsevier 2021-09-01
Series:	Journal of Vascular Surgery Cases and Innovative Techniques
Subjects:	Cerebral aneurysm Coronary artery aneurysm Genetic arteriopathy Platelet-derived growth factor receptor β gene Radial artery aneurysm Somatic mosaicism
Online Access:	http://www.sciencedirect.com/science/article/pii/S2468428721000253

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spelling	doaj-d0c9d0a8933c442e87b820b3790d71362021-09-27T04:27:59ZengElsevierJournal of Vascular Surgery Cases and Innovative Techniques2468-42872021-09-0173567571True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β geneSherene Shalhub, MD, MPH0Lisa Hysa, BS1Peter H. Byers, MD2Mark H. Meissner, MD3Manuel Ferreira, Jr., MD, PhD4Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash; Correspondence: Sherene Shalhub, MD, MPH, FACS, Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, 1959 NE Pacific St, Box 356410, Seattle, WA 98195Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WashDepartment of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, Wash; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WashDivision of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WashDepartment of Neurosurgery, University of Washington School of Medicine, Seattle, WashWe 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.http://www.sciencedirect.com/science/article/pii/S2468428721000253Cerebral aneurysmCoronary artery aneurysmGenetic arteriopathyPlatelet-derived growth factor receptor β geneRadial artery aneurysmSomatic mosaicism
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sherene Shalhub, MD, MPH Lisa Hysa, BS Peter H. Byers, MD Mark H. Meissner, MD Manuel Ferreira, Jr., MD, PhD
spellingShingle	Sherene Shalhub, MD, MPH Lisa Hysa, BS Peter H. Byers, MD Mark H. Meissner, MD Manuel Ferreira, Jr., MD, PhD True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene Journal of Vascular Surgery Cases and Innovative Techniques Cerebral aneurysm Coronary artery aneurysm Genetic arteriopathy Platelet-derived growth factor receptor β gene Radial artery aneurysm Somatic mosaicism
author_facet	Sherene Shalhub, MD, MPH Lisa Hysa, BS Peter H. Byers, MD Mark H. Meissner, MD Manuel Ferreira, Jr., MD, PhD
author_sort	Sherene Shalhub, MD, MPH
title	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_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_sort	true radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene
publisher	Elsevier
series	Journal of Vascular Surgery Cases and Innovative Techniques
issn	2468-4287
publishDate	2021-09-01
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.
topic	Cerebral aneurysm Coronary artery aneurysm Genetic arteriopathy Platelet-derived growth factor receptor β gene Radial artery aneurysm Somatic mosaicism
url	http://www.sciencedirect.com/science/article/pii/S2468428721000253
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True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene

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