Key result
A 14-year-old male with galactosialidosis presented with thickened mitral and aortic valves, mild to moderate mitral regurgitation, and mild aortic stenosis on echocardiography.
Case Report (n=1)
Galactosialidosis can present with echocardiographic features of thickened mitral and aortic valves mimicking rheumatic heart disease, which should prompt consideration of lysosomal storage diseases when accompanied by skeletal dysplasia.
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May mimic rheumatic valve disease; extends cardiac phenotype of galactosialidosis but remains hypothesis-generating.
Bursi et al. (2003) conducted a case report in Galactosialidosis (n=1). Galactosialidosis was evaluated on Echocardiographic features (mitral and aortic valve thickening). A 14-year-old male with galactosialidosis presented with thickened mitral and aortic valves, mild to moderate mitral regurgitation, and mild aortic stenosis on echocardiography.
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