Jason P. Weinman, David A. Mong, LaDonna J. Malone, D. Dunbar Ivy, Robin R. Deterding, Csaba Galambos
Children’s Hospital Colorado.
United States
Pediatric Radiology
Pediatr Radiol 2022; 52: 2549-2556
DOI: 10.1007/s00247-022-05413-8
Abstract
Background: Germline mutation in bone morphogenetic protein type II (BMPR2) is the most common cause of idiopathic/heritable pulmonary hypertension in pediatric patients. Despite the discovery of this gene there are no known descriptions of the CT or CT angiography findings in these children.
Objective: To correlate the clinical presentation, pathology and chest CT findings in pediatric patients with pulmonary hypertension caused by mutations in the BMPR2 gene.
Materials and methods: We performed a search to identify pediatric patients with a BMPR2 mutation and CT or CT angiography with the clinical history of pulmonary hypertension. Three pediatric radiologists reviewed the children’s CT imaging findings and ranked the dominant findings in order of prevalence via consensus.
Results: We identified three children with pulmonary hypertension and confirmed germline BMPR2 mutations, two of whom had undergone lung biopsy. We then correlated the imaging findings with histopathology and clinical course.
Conclusion: All of our patients with BMPR2 mutations demonstrated a distinct CT pattern of ground-glass nodules with a prominent central enhancing vessel/nodule. These findings correlated well with the pathological findings of plexogenic arteriopathy.
Category
Class I. Heritable Pulmonary Hypertension
Diagnostic Testing for Pulmonary Vascular Disease. Non-invasive Testing
Pulmonary Vascular Pathology
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
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