Key result
In a neonate with mucopolysaccharidosis type I and noncompaction/dilated-mixed cardiomyopathy, enzyme replacement therapy followed by hematopoietic stem cell transplantation led to complete recovery of left ventricular systolic function.
Why the study?
Heart involvement in mucopolysaccharidosis is progressive and worsens with age, but neonatal presentation with noncompaction/dilated cardiomyopathy and heart failure had not been described.
Case Report (n=1)
Answers are grounded in this paper and cite their sources.
Supports early combined therapy consideration in neonatal MPS I cardiomyopathy; leaves open generalizability beyond this single Level 5 case.
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.
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Miselli et al. (2021) conducted a case report in Mucopolysaccharidosis type I with mixed noncompaction/dilated cardiomyopathy and heart failure (n=1). Enzyme replacement therapy and hematopoietic stem cell transplantation was evaluated on Recovery of left ventricular systolic function. In a neonate with mucopolysaccharidosis type I and noncompaction/dilated-mixed cardiomyopathy, enzyme replacement therapy followed by hematopoietic stem cell transplantation led to complete recovery of left ventricular systolic function.
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