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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Detalles Bibliográficos
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
Descripción
Sumario: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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