Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

<b>Background and Clinical Significance</b>: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. <b>Case Presentation</b>: A <i>DDX3X</i> 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. <b>Conclusions</b>: We suggest an important role for <i>DDX3X</i> in the development of the pulmonary vasculature.