Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

We present here the first literature description of a predominantly cardiac phenotype in a patient homozygous for missense mutation p.R152W in the N-acetylogalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. An adult Caucasian woman, who displayed very few symptoms up to her late thirties, was diagnosed with mucopolysaccharidosis type VI (MPS VI) after her hospitalization due to acute heart failure originating mainly from valve disease. In addition to her cardiac phenotype some musculoskeletal involvement without other MPS characteristic features were found. Despite the common pharmacologic treatment and implementation of enzyme replacement therapy with galsulfase the patient died at the age of 38years because of decompensation of chronic heart failure. ► MPS VI may present with predominantly cardiac symptoms. ► Valve disease with MPS suggestive symptoms requires uGAG test. ► Homozygosity for p.R152W can lead to attenuated MPS VI phenotype.