Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
Abstract 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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-07-01
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| Series: | Pulmonary Circulation |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/pul2.12108 |
| _version_ | 1811185600119701504 |
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| author | Stephanie M. Tsoi Kirk Jones Elizabeth Colglazier Claire Parker Hythem Nawaytou David Teitel Jeffrey R. Fineman Roberta L. Keller |
| author_facet | Stephanie M. Tsoi Kirk Jones Elizabeth Colglazier Claire Parker Hythem Nawaytou David Teitel Jeffrey R. Fineman Roberta L. Keller |
| author_sort | Stephanie M. Tsoi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-11T13:31:59Z |
| format | Article |
| id | doaj.art-3fac05cae6894bd78dead81451f4a2f2 |
| institution | Directory Open Access Journal |
| issn | 2045-8940 |
| language | English |
| last_indexed | 2024-04-11T13:31:59Z |
| publishDate | 2022-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Pulmonary Circulation |
| spelling | doaj.art-3fac05cae6894bd78dead81451f4a2f22022-12-22T04:21:44ZengWileyPulmonary Circulation2045-89402022-07-01123n/an/a10.1002/pul2.12108Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variantStephanie M. Tsoi0Kirk Jones1Elizabeth Colglazier2Claire Parker3Hythem Nawaytou4David Teitel5Jeffrey R. Fineman6Roberta L. Keller7Division of Pediatric Critical Care, Department of Pediatrics University of California San Francisco San Francisco California USADepartment of Pathology University of California San Francisco San Francisco California USADepartment of Nursing University of California San Francisco San Francisco California USADepartment of Nursing University of California San Francisco San Francisco California USADivision of Cardiology, Department of Pediatrics University of California San Francisco San Francisco California USADivision of Cardiology, Department of Pediatrics University of California San Francisco San Francisco California USADivision of Pediatric Critical Care, Department of Pediatrics University of California San Francisco San Francisco California USADivision of Neonatology, Department of Pediatrics University of California San Francisco San Francisco California USAAbstract 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.https://doi.org/10.1002/pul2.12108geneticsneonatal lung diseasepediatricspulmonary arterial hypertension |
| spellingShingle | Stephanie M. Tsoi Kirk Jones Elizabeth Colglazier Claire Parker Hythem Nawaytou David Teitel Jeffrey R. Fineman Roberta L. Keller Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant Pulmonary Circulation genetics neonatal lung disease pediatrics pulmonary arterial hypertension |
| 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 | genetics neonatal lung disease pediatrics pulmonary arterial hypertension |
| url | https://doi.org/10.1002/pul2.12108 |
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