Khalifah A. Aldawsari, Steven H. Abman, David Badesch, David Dunbar Ivy
University of Colorado Anschutz Medical School and Children’s Hospital Colorado.
United States
Pulmonary Circulation
Pulm Circ 2026; 16:
DOI: 10.1002/pul2.70378
Abstract
Neonates and infants with FOXF1 mutation develop alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), which is typically considered a uniformly fatal neonatal lung disorder due to marked hypoxemic respiratory failure with severe pulmonary hypertension (PH). Survival beyond infancy is exceedingly rare, with limited reports of FOXF1 genetic abnormalities in older children or adult cases of severe PH. Here, we report the case of a male patient with a pathogenic FOXF1 variant who presented with severe PH in early infancy whose disease stabilized and improved with early and aggressive PH therapy. The patient subsequently died at the age of 30 years, however, due to severe right ventricular failure due to the acute onset of pneumonia. This case highlights that survival into adulthood is feasible in patients with FOXF1-related pulmonary vascular disease and supports the inclusion of FOXF1 in pulmonary hypertension genetic panels for subjects who develop PH across the lifespan.
Category
Class III. Pulmonary Hypertension Associated with Developmental Diseases of the Lung
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes