CTICasesLoeys-Dietz Syndrome with Pectus Carinatum
Imaging findings
Chest radiograph and CT demonstrate dramatic pectus carinatum with the sternum projecting anteriorly in a keel-shaped configuration, distinct from the more common pectus excavatum. Sagittal CT reconstruction shows the sternum bowed anteriorly around the cardiac chambers. The patient has known Loeys-Dietz syndrome and has previously undergone surgical repair. The heart is not enlarged, confirming this is a primary skeletal deformity rather than secondary sternal bowing from cardiac enlargement.
Key takeaways
Loeys-Dietz syndrome is a connective tissue disorder caused by mutations in TGF-beta receptor genes (TGFBR1 or TGFBR2) that is associated with aortic aneurysm, arterial tortuosity, and skeletal abnormalities including pectus excavatum or pectus carinatum. Pectus carinatum is less commonly seen in clinical practice than excavatum, and its association with Loeys-Dietz syndrome is a recognized but relatively rare manifestation. Sagittal CT reformats are the best modality to demonstrate the nature and severity of sternal deformity.
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