Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age. We describe the first case of mucopolysaccharidosis type I presenting with noncompaction/dilated-mixed cardiomyopathy and heart failure within neonatal period, which responded successfully to specific metabolic treatment. Cardiac function recovered after enzyme replacement therapy and hematopoietic stem cell transplantation, adding to the existing knowledge of the disease.
Highlights • MPS can present with acute cardiac failure and cardiomyopathy within neonatal period. • Cardiomyopathies associated with MPS include also noncompaction phenotypes. • Heart failure due to MPS can respond successfully to specific metabolic treatment. • Consider complete metabolic tests in case of inexplicable neonatal heart failure.