Evaluation of Left Sided cardiac Functions in Pediatric Patients with Mucopolysacaridosis using Conventional, Tissue Doppler and Three-Dimensional Echocardiography

Mucopolysaccharidoses (MPS) is a rare disorder comprising chronic metabolic situations due to genetic mutation. We aimed to evaluate changes in left atrial and left ventricular (LV) functions in cases with MPS in absence of hemodynamically significant valvular or conduction abnormality. This observational case-control study included 14 patients with mucopolysaccharidosis, 8 cases were MPS type II (Hunter) and 6 cases were MPS type IV (Morqio) in comparison with 14 controls of matched age and sex. A standard detailed transthoracic echocardiogram (TTE) was conducted based on the American Society of Echocardiography (ASE) recommendations recommendations. Tissue Doppler and Three-dimensional Echocardiography were also done to included subjects. Regarding Conventional ECHO 2D, there was a significant difference between the studied groups regarding a score for Aortic valve annulus with higher median value among cases. Z score for sinus of Valsalva (SoV), Mean Sino tubular junction and Z score of Sino tubular junction were statistically significant higher among cases. There were statistically significant higher tissue Doppler findings including, E` wave, S` wave, E/E` ratio, and Tie index in cases group. Regarding 3D-ECHO Left Ventricle, there was significant difference between the studied groups regarding LV EF, LVCI and ED mass/ BSA. Regarding 3D-ECHO Left Atrium (LA), there was significant difference between the studied groups as regard LAV min, LAV EF and LA VI. Echocardiography is a crucial diagnostic tool for assessing cardiac involvement in pediatric patients with MPS. Cardiac abnormalities are common in MPS, and echocardiography helps identify valve lesions, ventricular hypertrophy, diastolic dysfunction, atrial dysfunction.