Echocardiographic findings in pediatric patients with Mucopolysaccharidosis IV-A with mutation c.901G>T in the GALNS gene in a fourth level health center in Colombia between 2012-2019

Abstract

Mucopolysaccharidosis IV-A is a rare lysosomal storage disorder, whose most evident clinical manifestation is multiple dysostosis. Multiorgan disorders have been described in this type of patients, however, the Cardiovascular manifestations have not been described with greater emphasis. The main objective of this research was to describe the echocardiogra- phic findings in pediatric patients with type IV-A mucopolysaccharidosis with c.901G>T mutation in the GALNS gene. A descriptive case series study was carried out, which included patients with a confirmed diagnosis (clinical, biochemical and molecular) of mucopolysaccharidosis type IV-A; the patients were attended a hospital institution in Pereira, Colombia, between 2012 and 2019, where echocardiographic parameters were evaluated. Ten patients with ages ranging from 3 to 18 years, average 10, were included. The cardiac abnormalities identified were trivial mitral regurgitation in 4 of 10 patients, aortic annulus dilation in 9 of 10, dilatation of the ascending aorta, dilatation of the transverse arch and aortic isthmus in 1 of 10, slightly thickened subaortic area without stenosis and mild concentric left ventricular hypertrophy in 1 of 10 patients. Ventricular function was normal in all patients. The most frequent echocardiographic findings were dilatation of the aortic annulus and trivial regurgitation of the mitral valve, additionally, thickened mitral and aortic valves and left ventricular hypertrophy may be found, so periodic evaluation by pediatric cardiology is important.