World journal for pediatric & congenital heart surgery
February 2, 2026 · via Europe PMC
Familial Ascending Aortic Aneurysm in a Child With a Pathologic Variant of the Lysyl Oxidase Gene.
Cortes JEC, Zbib A, Bateson B, Vranicar M, Plowden J, Plunkett MP, Pipkin W, St Louis JD.
AI summary — for doctors, generated from the abstract only
This case report describes a 5-year-old boy found to have a large ascending aortic aneurysm linked to a pathogenic variant in the LOX gene, who underwent successful surgical repair after presenting with seemingly unrelated respiratory symptoms.
What was studied
A case report of a 5-year-old male who presented to the emergency room with upper respiratory symptoms and was found on chest X-ray to have a markedly enlarged mediastinum, with further imaging revealing a 9-cm ascending aortic aneurysm; genetic testing identified a pathogenic variant in the lysyl oxidase (LOX) gene, which is associated with familial thoracic aortic aneurysms, and the child underwent successful surgical repair.
Key findings
- The child's aortic aneurysm measured 9 cm and was confined to the ascending aorta.
- A pathogenic variant was identified in the LOX gene, which encodes an enzyme essential for cross-linking collagen and elastin in connective tissue.
- The child underwent successful surgical intervention for the aneurysm.
Clinical relevance
This case illustrates that incidental chest imaging findings in children, even when obtained for unrelated reasons, can reveal serious underlying genetic connective tissue conditions predisposing to aortic aneurysm, which may prompt consideration of genetic testing and family screening in similar presentations, though this is based on a single case.
Who should care
Limitations
This is a single case report; findings cannot be generalized to predict the frequency or course of LOX-related aneurysms in other children.
A large, life-threatening aortic aneurysm was discovered incidentally in a young child during evaluation for a routine respiratory illness, ultimately traced to a rare genetic connective tissue condition.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
The lysyl oxidase (LOX) gene encodes the extracellular enzyme lysyl oxidase, which is essential for cross-linking collagen and elastin, key structural proteins that maintain connective tissue stability. Pathogenic variants in the LOX gene are associated with familial thoracic aortic aneurysms. A five-year-old male presented to the emergency room with upper respiratory tract symptoms. A chest radiograph showed a markedly enlarged mediastinum. Further studies revealed a 9-cm thoracic aortic aneurysm confined to the ascending aorta. The child underwent successful surgical intervention.
DOI
10.1177/21501351251404457
PMID
41627038
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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