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

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.

Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

“…Typically, LV hypertrophy and diastolic dysfunction occur in the early phases, while LV dilation and systolic dysfunction are common in the final disease stage. Moreover, coronary artery disease and systemic hypertension are common in patients with MPSs and have been associated with the diffuse intimal proliferation from GAG deposition, while electrophysiological anomalies such as atrioventricular blocks are related to fibrosis of the conduction system ( 128 , 131 , 132 ).…”

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

“…Patients with MPS IVA manifest features such as waddling gait, abnormal skeletal development, genu valgum (knock knees), bell-shaped chest, joint hypermobility and laxity, spinal deformities, large elbows and wrists, and short stature for their age with a short neck. Moreover, mild hepatosplenomegaly, hearing impairment, respiratory compromise, abnormal heart development, corneal clouding, and deficient tooth enamel may be present [ 9 , 10 , 11 , 12 , 13 , 14 ]. Furthermore, due to macroglossia, temporomandibular joint stiffness, abnormal laryngeal anatomy, trachea deformity, and glottic narrowing predisposes the patients toward difficult and failed intubations, thereby putting such patients at a greater anesthetic risk [ 15 ].…”

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

“…Aortic root dilatation is frequently observed in animal models of MPS I, leading to the effacement of the sinotubular ridge [ 8 ]. Some studies have reported that aortic root dilatation may appear in various types of MPS patients, especially in those with MPS IVA [ 12 , 13 , 14 , 15 , 16 , 17 , 18 ].…”