Pulmonary disease in paediatric patients with trisomy 21: a review of imaging findings

AIM: Trisomy 21, also known as Down syndrome, is the most common chromosomal abnormality seen in live births and is associated with congenital abnormalities involving multiple organ systems. While the congenital cardiac and gastrointestinal associations of trisomy 21 are well known, the associated pulmonary radiological findings are less widely described. Our objective is to assess the presence, categories, and prevalence of pulmonary radiological findings in patients with trisomy 21, and to describe and provide reference images of these findings. MATERIALS AND METHODS: A database of patients with a confirmed diagnosis of trisomy 21 was provided by the congenital cardiac disease clinic. One hundred thirty-four patients who had undergone computed tomography (CT) imaging of the chest were then identified from this database, all of whom had a diagnosis of congenital cardiac disease. A retrospective review of imaging findings of these 134 patients was then conducted by two specialist consultant paediatric radiologists and a paediatric radiology fellow. RESULTS: The CTs of 62 patients demonstrated no abnormality. The CTs of the remaining 72 patients were abnormal. Air trapping (present in 35% of patients), subpleural cysts (17%), bronchiectasis (4%), findings suggestive of bronchopulmonary dysplasia (3%), and abnormalities of the tracheobronchial tree (4%) were among the abnormalities demonstrated. CONCLUSION: This retrospective review describes the spectrum of thoracic radiological findings seen in patients with trisomy 21. This is of increasing value to practicing radiologists due to the rising life expectancy in this population. (c) 2025 The Royal College of Radiologists. Published by Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.