Evaluation of cardiac function in pediatric patients diagnosed with mucopolysaccharidosis (MPS) and use of annular plane systolic excursion (APSE) to evaluate systolic function

Abstract

Aim

In mucopolysaccharidosis (MPS) disease, glycosaminoglycan (GAG) accumulates in the cardiovascular system and creates clinical conditions. Our aim in the study is to analyze the cardiac functions of MPS patients and reveal their characteristics.

Methods

All patients underwent transthoracic echocardiographic evaluation. Left ventricular wall thickness and diameter were measured. Analyses were performed by dividing MPS patients into subgroups: those receiving or not receiving enzyme replacement therapy (ERT), and those receiving ERT for ≤5 years and > 5 years. The left ventricular wall thickness, ventricular function parameters, ventricular tissue Doppler velocities, valve thicknesses, and functions were evaluated. Annular plane systolic excursion (APSE) and APSE-z scores were evaluated for ventricular systolic function.

Results

The left ventricular wall thickness and mass were significantly higher in the MPS group.Although the EF values were similar between the groups, the MAPSE and MAPSE z-scores were significantly lower in patients with MPS. The Left ventricular diastolic filling velocity and tissue velocity were significantly lower in the MPS group. The TAPSE, z-score, and right ventricular tissue velocities were significantly lower in the MPS group.Although ventricular functions and remodeling were similar in patients with MPS receiving ERT, valve pathologies were significantly higher in patients with MPS receiving ERT.

Conclusion

Patients with MPS have both systolic and diastolic dysfunction in the early stages. Annular plane systolic excursion (APSE) can be routinely evaluated for ventricular systolic function in patients with MPS because it shows systolic dysfunction and is easy to apply. The left ventricular diameter and mass index increased in patients with MPS. Although ERT has positive effects on cardiac function in patients with MPS, it does not appear to affect valve pathologies.