Chest computed tomography findings of ground-glass nodules with enhancing central vessel/nodule in pediatric patients with BMPR2 mutations and plexogenic arteriopathy

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. Objec...

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Bibliographic Details
Published in:Pediatric radiology 2022-12, Vol.52 (13), p.2549-2556
Main Authors: Weinman, Jason P., Mong, David A., Malone, LaDonna J., Ivy, Dunbar D., Deterding, Robin R., Galambos, Csaba
Format: Article
Language:English
Subjects:
Angiography
Biopsy
Bone morphogenetic protein receptor type II
Chest
Children
Computed tomography
Correlation
Hypertension
Imaging
Medical imaging
Medicine
Medicine & Public Health
Mutation
Neuroradiology
Nodules
Nuclear Medicine
Oncology
Original Article
Patients
Pediatrics
Pulmonary hypertension
Radiology
Ultrasound
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Summary: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.
ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-022-05413-8