Outlet type of interventricular septal defect in SanFilippo type-B syndrome

Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders, due to deficiency of glycosaminoglycans breakdown enzymes. MPS type III is also known as SanFilippo syndrome, which is further subdivided into four distinct forms – A, B, C and D – caused by different enzyme deficiencies, but with similar clinical characteristics. Cardiac involvement in SanFilippo syndrome is less common compared with the other MPS types. In our case report, outlet type of interventricular septal defect was echocardiographically diagnosed in a fifteen year-old boy with known history of SanFilippo type-B syndrome, which, to our knowledge, has not yet been reported.