Luisa Paul, Victoria C. Ziesenitz, Matthias Gorenflo
University Hospital.
Germany
Reports
Reports 2025; 8:
DOI: 10.3390/reports8020047
Abstract
Background and Clinical Significance: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension.
Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok-Campeau syndrome and the development of pulmonary vasculopathy. However, further validation is required.
Conclusions: We suggest an important role for DDX3X in the development of the pulmonary vasculature.
Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric 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