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

Francesca Miselli; Alice Brambilla; Giovanni Battista Calabri; Silvia Favilli; Maria Chiara Sanvito; Luca Ragni; Francesco Torcetta; Katia Rossi; Maria Alice Donati; Elena Procopio

doi:10.1016/j.ymgmr.2021.100714

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

Mol Genet Metab Rep. 2021 Jan 29:26:100714. doi: 10.1016/j.ymgmr.2021.100714. eCollection 2021 Mar.

Affiliations

¹ Department of Health Sciences, University of Florence, Viale Pieraccini 6 -, 50139 Florence, Italy.
² Paediatric Cardiology Unit, Meyer Children Hospital, Viale Pieraccini 24, 50139 Florence, Italy.
³ Haematology-Oncology Department, Meyer Children Hospital, Viale Pieraccini 24, 50139 Florence, Italy.
⁴ Paediatric Cardiology Unit, St Orsola Hospital, University of Bologna, Via Giuseppe Massarenti 9 -, 40138 Bologna, Italy.
⁵ Neonatal Intensive Care Unit, Policlinico Hospital, via del Pozzo 71, 41124 Modena, Italy.
⁶ Inborn errors in metabolism and neuro-muscular disorders Unit, Meyer Children Hospital, Viale Pieraccini 24, 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.

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.

Publication types

Case Reports