Mucopolysaccharidoses IV and VI: Aspects in Two-dimensional Speckle-tracking Strain Echocardiogram Imaging in a Case Series

Introduction

Mucopolysaccharidosis (MPS) belongs to the group of lysosomal storage diseases associated with the partial or total deficiency of 11 different lysosomal hydrolases responsible for glycosaminoglycan (GAG) degradation. GAG accumulation may affect the valves, myocardium, and coronary vessels. The forms that accumulate dermatan sulfate (MPS I, II, VI, and VII) are associated with valvular thickening (L > R). MPS is one of the most common causes of mitral annulus thickening in children. Cardiac involvement also includes hypertrophy, tendinous cord shortening, and papillary muscle thickening. Echocardiography is an essential technique used to assess cardiac involvement in MPS. The study of myocardial strain using two-dimensional speckle-tracking echocardiography (2D-STE) provides a more sensitive evaluation of myocardial fiber strain that can reveal early and subclinical myocardial involvement regardless of left ventricular ejection fraction (LVEF) changes^,.

This case series reviews relevant echocardiographic aspects of cardiac involvement complemented by 2D-STE in three patients with MPS during outpatient follow-up and taking enzyme replacement therapy (ERT).

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