Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.

Hsiang-Yu Lin,Chung-Lieh Hung,Shan-Miao Lin,Ming-Ren Chen,Tung-Ming Chang,Shuan-Pei Lin,Chung-Lin Lee,Kuo-Tzu Sung,Chih-Kuang Chuang,Charles Hou,Dau-Ming Niu

doi:10.3390/diagnostics10020062

Abstract

Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1–34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, z scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS z score was positively correlated with the LVMI z score (p < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The z scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (p < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease.

Highlights

Mucopolysaccharidoses (MPS; OMIM 252700) are a group of rare inherited metabolic disorders resulting from a specific lysosomal enzyme deficiency associated with glycosaminoglycan (GAG)accumulation in various cells and tissues, leading to a progressive multiple organ dysfunction.The development of patients with MPS is usually unaffected at birth; multiple clinical manifestations may subsequently appear including coarse facial features, corneal clouding, hearing impairment, skeletal abnormalities, profound growth retardation, poor joint range of motion, hepatosplenomegaly, cardiac hypertrophy, and valvular heart disease
The greatest deviation from the reference values of global longitudinal strain (GLS) was observed in the patients with MPS VI, followed by those with
The GLS z score was positively correlated with the left ventricular mass index (LVMI) z score (p < 0.01) (Figure 2)

Summary

Introduction

Mucopolysaccharidoses (MPS; OMIM 252700) are a group of rare inherited metabolic disorders resulting from a specific lysosomal enzyme deficiency associated with glycosaminoglycan (GAG). The development of patients with MPS is usually unaffected at birth; multiple clinical manifestations may subsequently appear including coarse facial features, corneal clouding, hearing impairment, skeletal abnormalities, profound growth retardation, poor joint range of motion, hepatosplenomegaly, cardiac hypertrophy, and valvular heart disease. Seven major types of MPS disorders (I, II, III, IV, VI, VII, and IX) consisting of 11 diverse enzyme deficiencies have been identified. Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Results: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively.

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