SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to heritable and congenital heart disease-associated PAH.

Study Design: We assembled a multi-institutional cohort of children with PAH and SOX17 variants enrolled in the Pediatric Pulmonary Hypertension Network (PPHNet) and other registries. Subjects were identified through exome and PAH gene panel sequencing.

Learning from the pulmonary veins.

The purpose of this article is to review the basic embryology and anatomy of the pulmonary veins and the various imaging techniques used to evaluate the pulmonary veins, as well as the radiologic findings in diseases affecting these structures. Specific cases highlight the clinical importance of the imaging features, particularly the findings obtained with multidetector computed tomography (CT). Pulmonary vein disease can be broadly classified into congenital or acquired conditions.