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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 non...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851837/ https://www.ncbi.nlm.nih.gov/pubmed/33552908 http://dx.doi.org/10.1016/j.ymgmr.2021.100714 |
| _version_ | 1783645699962830848 |
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| author | Miselli, Francesca Brambilla, Alice Calabri, Giovanni Battista Favilli, Silvia Sanvito, Maria Chiara Ragni, Luca Torcetta, Francesco Rossi, Katia Donati, Maria Alice Procopio, Elena |
| author_facet | Miselli, Francesca Brambilla, Alice Calabri, Giovanni Battista Favilli, Silvia Sanvito, Maria Chiara Ragni, Luca Torcetta, Francesco Rossi, Katia Donati, Maria Alice Procopio, Elena |
| author_sort | Miselli, Francesca |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7851837 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-78518372021-02-05 Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature Miselli, Francesca Brambilla, Alice Calabri, Giovanni Battista Favilli, Silvia Sanvito, Maria Chiara Ragni, Luca Torcetta, Francesco Rossi, Katia Donati, Maria Alice Procopio, Elena Mol Genet Metab Rep Case Report 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. Elsevier 2021-01-29 /pmc/articles/PMC7851837/ /pubmed/33552908 http://dx.doi.org/10.1016/j.ymgmr.2021.100714 Text en © 2021 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report Miselli, Francesca Brambilla, Alice Calabri, Giovanni Battista Favilli, Silvia Sanvito, Maria Chiara Ragni, Luca Torcetta, Francesco Rossi, Katia Donati, Maria Alice Procopio, Elena Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title | Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title_full | Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title_fullStr | Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title_full_unstemmed | Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title_short | Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature |
| title_sort | neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. first description in literature |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7851837/ https://www.ncbi.nlm.nih.gov/pubmed/33552908 http://dx.doi.org/10.1016/j.ymgmr.2021.100714 |
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