Arq Bras Cardiol: Imagem cardiovasc. 2022; 35(2): eabc255
Dilated Cardimiopathy as Initial Presentation of Mucopolysacaridosis in Infant
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.
The heart is affected in more than 50% of mucopolysaccharidosis cases, with both valvular and myocardial involvement in addition to a possible association with systemic arterial hypertension (SAH).
[…]
Keywords: Cardiomyopathy; Child; Dilated; Mucopolysaccharidosis I
284
