Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant

We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn. Developmental arrest, pulmonary vascular hypertensive changes, and pulmonary interstitial glycogenosis were present on lung biopsy at 7 week...

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Autores principales: Tsoi, Stephanie M., Jones, Kirk, Colglazier, Elizabeth, Parker, Claire, Nawaytou, Hythem, Teitel, David, Fineman, Jeffrey R., Keller, Roberta L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297023/
https://www.ncbi.nlm.nih.gov/pubmed/35874850
http://dx.doi.org/10.1002/pul2.12108
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author Tsoi, Stephanie M.
Jones, Kirk
Colglazier, Elizabeth
Parker, Claire
Nawaytou, Hythem
Teitel, David
Fineman, Jeffrey R.
Keller, Roberta L.
author_facet Tsoi, Stephanie M.
Jones, Kirk
Colglazier, Elizabeth
Parker, Claire
Nawaytou, Hythem
Teitel, David
Fineman, Jeffrey R.
Keller, Roberta L.
author_sort Tsoi, Stephanie M.
collection PubMed
description We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn. Developmental arrest, pulmonary vascular hypertensive changes, and pulmonary interstitial glycogenosis were present on lung biopsy at 7 weeks of age. Pulmonary hypertension has persisted through childhood. Genetic testing at 8 years identified a novel mutation in TBX4.
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spelling pubmed-92970232022-07-22 Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant Tsoi, Stephanie M. Jones, Kirk Colglazier, Elizabeth Parker, Claire Nawaytou, Hythem Teitel, David Fineman, Jeffrey R. Keller, Roberta L. Pulm Circ Case Reports We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn. Developmental arrest, pulmonary vascular hypertensive changes, and pulmonary interstitial glycogenosis were present on lung biopsy at 7 weeks of age. Pulmonary hypertension has persisted through childhood. Genetic testing at 8 years identified a novel mutation in TBX4. John Wiley and Sons Inc. 2022-07-01 /pmc/articles/PMC9297023/ /pubmed/35874850 http://dx.doi.org/10.1002/pul2.12108 Text en © 2022 The Authors. Pulmonary Circulation published by John Wiley & Sons Ltd on behalf of Pulmonary Vascular Research Institute. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Tsoi, Stephanie M.
Jones, Kirk
Colglazier, Elizabeth
Parker, Claire
Nawaytou, Hythem
Teitel, David
Fineman, Jeffrey R.
Keller, Roberta L.
Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title_full Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title_fullStr Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title_full_unstemmed Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title_short Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
title_sort persistence of persistent pulmonary hypertension of the newborn: a case of de novo tbx4 variant
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297023/
https://www.ncbi.nlm.nih.gov/pubmed/35874850
http://dx.doi.org/10.1002/pul2.12108
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