Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses

Abstract

Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary glycoaminoglycans, 3 patients were excluded because their results did not correlate with any known type of mucopolysaccharidosis. Echocardiography revealed abnormal findings in 11 patients [61.1%]. The mitral valve was the most commonly affected valve; 7 patients [38.9%] had thickened mitral valve and 6 had mitral regurge. Corneal opacities were found in 3 patients [16.7%] and progressive increase in intraocular pressure in 1 patient [5.6%], while fundus examination showed early optic atrophy in 1 patient [5.6%] and bilateral papilloedema in 2 patients [11.1%].

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

“…Through our search, we gathered (at least) 47 patients reported with CVD (MVS, MVR, AVS, ARe), BR, AT, VSD, asymmetric SH and CH and arrhythmogenic RVHCM, which can result in cardiac arrest and recommendation for heart transplant [532,589,[604][605][606][607][608][609] (Table 6, Supplementary Tables S2 and S3). Additionally, we found eight studies with patients displaying cardiac involvement, but the subtype of Sanfilippo syndrome (A, B, C or D) was not specified, and thus they have not been included [512,540,544,556,564,591,600,610].…”

“…Our systematic search identified (at least) 39 MPS-IIIB patients described with cardiac symptoms, including CVD (MVS, MVR, AVS, ARe), to BR, AT, VSD, SH (asymmetric), CH and arrhythmogenic RVHCM, which in some cases resulted in cardiac arrest and/or recommendation for heart transplant [589,[604][605][606]609,[612][613][614] (Table 6, Supplementary Tables S2 and S3). As mentioned in the previous paragraph, we found eight additional studies with MPS_III patients described with cardiac involvement, but the subtype was not specified, thus these studies have been excluded (Supplementary Table S3) [512,540,544,556,564,591,600,610].…”