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Case Reports
. 2021 Jan 29:26:100714.
doi: 10.1016/j.ymgmr.2021.100714. eCollection 2021 Mar.

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

Francesca Miselli  1 , Alice Brambilla  2 , Giovanni Battista Calabri  2 , Silvia Favilli  2 , Maria Chiara Sanvito  3 , Luca Ragni  4 , Francesco Torcetta  5 , Katia Rossi  5 , Maria Alice Donati  6 , Elena Procopio  6
Affiliations
Case Reports

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

Francesca Miselli et al. Mol Genet Metab Rep. .

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.

Keywords: 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.

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Figures

Fig. 1
Fig. 1
Apical four chamber echocardiogram view on admission Left ventricle appears mildly dilated, with noncompaction aspect of its apex and parietal wall.
See this image and copyright information in PMC

References

    1. Oussoren E., Keulemans J., van Diggelen O.P., Oemardien L.F., Timmermans R.G., van der Ploeg A.T. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. Mol. Genet. Metab. 2013 Aug;109(4):377–381. - PubMed
    1. Martins A.M., Dualibi A.P., Norato D., Takata E.T., Santos E.S., Valadares E.R. Guidelines for the management of mucopolysaccharidosis type I. J. Pediatr. 2009 Oct;155(4 Suppl):S32–S46. - PubMed
    1. Sweet M.E., Mestroni L., Taylor M.R.G. Genetic infiltrative Cardiomyopathies. Heart Fail. Clin. 2018 Apr;14(2):215–224. - PMC - PubMed
    1. Arbustini E., Favalli V., Narula N., Serio A., Grasso M. Left ventricular noncompaction: A distinct genetic cardiomyopathy? J. Am. Coll. Cardiol. 2016;30;68(9):949–966. - PubMed
    1. El-Hattab A.W., Scaglia F. Mitochondrial Cardiomyopathies. Front Cardiovasc Med. 2016;3:25. - PMC - PubMed

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