Tissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease.

Abstract

Mucopolysaccharidosis type III (MPS III) is an extremely rare group of diseases among all MPS types. In recent years, there are studies about the presence and importance of cardiac involvement in MPS III patients as in other types of MPS. The aim of our study is to evaluate the cardiac functions of MPS III patients in pediatric age by using the M-mode, 2D, and Tissue Doppler echocardiographic measurements. The study was conducted prospectively between September and December 2020. Fifteen MPS III patients and 15 healthy volunteers were included in the study. The mean Tei indexes of all three regions including left ventricle (LV), right ventricle (RV), and interventricular septum (IVS) were higher in MPS III patients compared to the control group (0.43/0.36 for LV and 0.44/0.37 for RV and 0.41/0.35), respectively. Diastolic function parameters of MPS III Patients were worse than the control group. In MPS III patients, eight (53.3%) patients had valvular dysfunction, three (20%) patients asymmetric septal hypertrophy and four (26.7%) patients LV concentric remodeling pattern. We detected an increase of z score above +2 in aortic valve annulus, sinuses of Valsalva, IVS diastole diameter and also in the LV posterior wall diastole diameter measurements in some MPS III patients. We conclude that cardiac monitoring of MPS III patients is very important in terms of early detection and treatment of cardiac problems that may arise. Cardiac evaluation of larger series of MPS III patients are needed to make a better decision.