CTICasesAortic valve stenosis in Morquio syndrome
Imaging findings
Gated cardiac CT demonstrates severe aortic valve stenosis and thick calcification of the aortic valve leaflets, along with mild diffuse airway thickening, in a young female patient with Morquio syndrome.
Key takeaways
Morquio syndrome (mucopolysaccharidosis type IV) is a lysosomal storage disease. Excess glycosaminoglycan deposition in cardiac tissues leads to progressive valvular thickening, calcification, and severe aortic stenosis, often at a young age.
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