Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature.
Cardiac failure
Cardiomyopathy
ERT, Enzyme Replacement Therapy
GAGs, Glycosaminoglycans
HSCT, Hematopoietic Stem Cell Transplantation
Heart failure
LV, Left Ventricular
LVEV, Left Ventricular Ejection Fraction
MPS, Mucopolysaccharidosis
Mucopolysaccharidosis
Neonatal
Noncompaction
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
15
09
2020
revised:
12
01
2021
accepted:
13
01
2021
entrez:
8
2
2021
pubmed:
9
2
2021
medline:
9
2
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33552908
doi: 10.1016/j.ymgmr.2021.100714
pii: S2214-4269(21)00008-2
pmc: PMC7851837
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100714Informations de copyright
© 2021 The Authors.
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