1. Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature
- Author
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Silvia Favilli, Elena Procopio, Maria Chiara Sanvito, Francesca Miselli, Maria Alice Donati, Katia Rossi, Giovanni Battista Calabri, Alice Brambilla, Francesco Torcetta, and Luca Ragni
- Subjects
Cardiac function curve ,medicine.medical_specialty ,Cardiac failure ,Cardiomyopathy ,medicine.medical_treatment ,Mucopolysaccharidosis ,Case Report ,Heart failure ,Hematopoietic stem cell transplantation ,MPS, Mucopolysaccharidosis ,03 medical and health sciences ,Mucopolysaccharidosis type I ,0302 clinical medicine ,Endocrinology ,ERT, Enzyme Replacement Therapy ,Internal medicine ,Neonatal ,Genetics ,Medicine ,Noncompaction ,LVEV, Left Ventricular Ejection Fraction ,Molecular Biology ,lcsh:QH301-705.5 ,0303 health sciences ,HSCT, Hematopoietic Stem Cell Transplantation ,lcsh:R5-920 ,business.industry ,030305 genetics & heredity ,Dilated cardiomyopathy ,Enzyme replacement therapy ,GAGs, Glycosaminoglycans ,medicine.disease ,LV, Left Ventricular ,lcsh:Biology (General) ,Cardiology ,business ,lcsh:Medicine (General) ,030217 neurology & neurosurgery - 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., Highlights • MPS can present with acute cardiac failure and cardiomyopathy within neonatal period. • Cardiomyopathies associated with MPS include also noncompaction phenotypes. • Heart failure due to MPS can respond successfully to specific metabolic treatment. • Consider complete metabolic tests in case of inexplicable neonatal heart failure.
- Published
- 2021