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A publication of the Cardiovascular Imaging Department of the Brazilian Society of Cardiology
Uma publicação do Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiologia
DOI: 10.47593/2675-312X/20223502eabc255
Introduction Mucopolysaccharidoses are rare genetic diseases caused by decreased lysosomal enzymes that act in the catabolism of glycosaminoglycans, connective tissue extracellular matrix polymers. Glycosaminoglycans progressively accumulate in the airways, mucous membranes, lungs, bones, joints, heart, liver, eyes, ears, and central and peripheral nervous systems. The multiple affected organs characterize its multisystemic presentation with a wide spectrum of severity and clinical presentations. The most severe phenotype is Hurler syndrome (type I mucopolysaccharidosis), with an incidence of 0.61–1.30 per 100,000 live births. […]
Keywords: Cardiomyopathy; Child; Dilated; Mucopolysaccharidosis I