Familial Ascending Aortic Aneurysm in a Child With a Pathologic Variant of the Lysyl Oxidase Gene.
Jose E Colon Cortes, Adam Zbib, Brian Bateson et al.
✦ AI-curated · Sources linked
Case in brief
A five-year-old boy presented to the emergency department with upper respiratory symptoms. Chest radiography unexpectedly showed marked mediastinal enlargement, and further evaluation identified a 9-cm thoracic aortic aneurysm confined to the ascending aorta. The case was familial and associated with a pathogenic variant in the lysyl oxidase (LOX) gene, which encodes an enzyme involved in collagen and elastin cross-linking. The child underwent successful surgical intervention.
What made this case unusual
A very large ascending aortic aneurysm was identified in a young child during evaluation for respiratory symptoms, with a familial association and a pathogenic LOX variant.
Diagnostic / clinical pearl
Marked mediastinal enlargement on a chest radiograph obtained for respiratory symptoms may reveal a major aortic abnormality; further evaluation can define its extent and location.