Elizabeth S. Doughty, Christian Norvik, Alice Levin, Jenna Bodmer, Karin Tran-Lundmark, Steven H. Abman, Csaba Galambos
The University of Colorado and Children’s Hospital Colorado. Lund University and Wallenberg Center for Molecular Medicine.
United States and Sweden
Pediatric and Developmental Pathology
Pediatr and Dev Pathol 2023;
DOI: 10.1177/10935266231199933
Abstract
Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Pulmonary Vascular Pathology
Age Focus: Pediatric Pulmonary Vascular Disease or Adult 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: No