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Updated: Nov 18, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in
Francesca Miselli1, Alice Brambilla2, Giovanni Battista Calabri2
1Department of Health Sciences, University of Florence, Viale Pieraccini 6 -, 50139 Florence, Italy.
Abstract:
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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