Open AccessPersistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
Author(s) -
Tsoi Stephanie M.,
Jones Kirk,
Colglazier Elizabeth,
Parker Claire,
Nawaytou Hythem,
Teitel David,
Fineman Jeffrey R.,
Keller Roberta L.
Publication year - 2022
Publication title -
pulmonary circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.791
H-Index - 40
ISSN - 2045-8940
DOI - 10.1002/pul2.12108
Subject(s) - medicine , persistent pulmonary hypertension , pulmonary hypertension , persistence (discontinuity) , lung , extracorporeal , pediatrics , cardiology , geotechnical engineering , engineering
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.