Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

Pulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include surgery, interventional cardiac catheterization, and more recently, medications targeting cell proliferation, whi...

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Detalles Bibliográficos
Autores principales: Yung, Delphine, Freeman, Kaitlyn, Mirzaa, Ghayda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139298/
https://www.ncbi.nlm.nih.gov/pubmed/35626846
http://dx.doi.org/10.3390/children9050671
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author Yung, Delphine
Freeman, Kaitlyn
Mirzaa, Ghayda
author_facet Yung, Delphine
Freeman, Kaitlyn
Mirzaa, Ghayda
author_sort Yung, Delphine
collection PubMed
description Pulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include surgery, interventional cardiac catheterization, and more recently, medications targeting cell proliferation, which are not uniformly effective. We present a patient with PVS and a PIK3CA mutation, who demonstrated a good response to the targeted inhibitor, alpelisib.
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spelling pubmed-91392982022-05-28 Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation Yung, Delphine Freeman, Kaitlyn Mirzaa, Ghayda Children (Basel) Case Report Pulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include surgery, interventional cardiac catheterization, and more recently, medications targeting cell proliferation, which are not uniformly effective. We present a patient with PVS and a PIK3CA mutation, who demonstrated a good response to the targeted inhibitor, alpelisib. MDPI 2022-05-05 /pmc/articles/PMC9139298/ /pubmed/35626846 http://dx.doi.org/10.3390/children9050671 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Yung, Delphine
Freeman, Kaitlyn
Mirzaa, Ghayda
Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title_full Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title_fullStr Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title_full_unstemmed Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title_short Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
title_sort pulmonary vein stenosis associated with germline pik3ca mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139298/
https://www.ncbi.nlm.nih.gov/pubmed/35626846
http://dx.doi.org/10.3390/children9050671
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