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

Stephanie M. Tsoi, Kirk Jones, Elizabeth Colglazier, Claire Parker, Hythem Nawaytou, David Teitel, Jeffrey R. Fineman, Roberta L. Keller
University of California San Francisco.
United States

Pulmonary Circulation
Pul Circ 2022; 12:
DOI: 10.1002/pul2.12108

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.

Category
Genetic Factors Associated with Pulmonary Vascular Disease
Class I. Persistent Pulmonary Hypertension of the Newborn
Pulmonary Vascular Pathology

Age Focus: Pediatric Pulmonary Vascular Disease

Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication

Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes

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