Miselli Francesca, Brambilla Alice, Calabri Giovanni Battista, Favilli Silvia, Sanvito Maria Chiara, Ragni Luca, Torcetta Francesco, Rossi Katia, Donati Maria Alice, Procopio Elena
Department of Health Sciences, University of Florence, Viale Pieraccini 6 -, 50139 Florence, Italy.
Paediatric Cardiology Unit, Meyer Children Hospital, Viale Pieraccini 24, 50139 Florence, Italy.
Mol Genet Metab Rep. 2021 Jan 29;26:100714. doi: 10.1016/j.ymgmr.2021.100714. eCollection 2021 Mar.
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.
黏多糖贮积症是由于溶酶体酶缺乏导致的遗传性疾病，会致使几种组织中异常糖胺聚糖蓄积。心脏受累往往呈进行性，且会随着年龄增长而恶化。我们描述了首例在新生儿期表现为心肌致密化不全/扩张型混合性心肌病和心力衰竭的Ⅰ型黏多糖贮积症病例，该病例对特定代谢治疗反应良好。酶替代疗法和造血干细胞移植后心脏功能得以恢复，这丰富了该疾病的现有认知。
