Case Reports Journal Article Epublish
PubMed: 42737721 DOI: 10.3390/ijms27177824
Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.
Int J Mol Sci 27(17)
Authors: Karolina Chojnacka, Greta Sibrecht, Karolina Gruca-Stryjak, Tomasz Szczapa
Affiliations
- Neonatal Biophysical Monitoring and Cardiopulmonary Therapies Research Unit, II Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
- Department of Perinatology, Gynecology and Obstetrics, Poznan University of Medical Sciences Clinical Hospital, 60-535 Poznan, Poland.
- Genesis Medical Genetics Center, 60-529 Poznan, Poland.
- Department of Perinatology, Obstetrics and Gynecology, Polish Mother's Memorial Hospital Research Institute, 93-338 Łódź, Poland.
Abstract
Stüve-Wiedemann syndrome (SWS) is an ultra-rare autosomal recessive skeletal dysplasia caused by loss-of-function variants in the leukemia inhibitory factor receptor (LIFR) gene. While characterized by bone deformities and dysautonomia, severe persistent pulmonary hypertension of the newborn (PPHN) significantly contributes to high early mortality. We report a neonate with genetically confirmed SWS who presented with severe, suprasystemic PPHN refractory to standard pulmonary vasodilators, including inhaled nitric oxide. This case provides a detailed longitudinal hemodynamic characterization of severe suprasystemic PPHN in genetically confirmed SWS, including serial assessment of pulmonary pressures, shunt direction, and right ventricular function during treatment. Rather than identifying PPHN as a novel manifestation of SWS, it extends the phenotypic and hemodynamic characterization of pulmonary vascular involvement in this rare disorder.
MeSH
Genes, Hypertension, Hypertension, Pulmonary, Infant, Newborn, Beckwith-Wiedemann Syndrome, Intensive Care, Neonatal, Echocardiography, Hemodynamics