Cardiovascular changes in mucopolysaccharidoses in Taiwan

Abstract

From 1991 to 2002, we managed 72 patients with mucopolysaccharidoses. We retrospectively reviewed the records of 37 for whom detailed physical findings and cardiovascular evaluation were available. Twenty patients had serial electrocardiographic (ECG) examinations, and none had arrhythmias. All 20 patients had low R wave voltage in V6. One type VI patient had ischaemic changes secondary to severe cardiomyopathy at the terminal stage of her disease. Among the 37 patients in whom echocardiography was performed, cardiovascular abnormalities progressed with age, although most had mild clinical signs and symptoms. The most common changes were abnormalities of the mitral and aortic valves hypertrophy of the interventricular septum, especially in types I, II, and VI. During the follow-up period of up to 5 years, 3 type II patients and I type VI patient expired. In at least 3 of these patients, death was related to cardiopulmonary failure. As MPS patients are surviving longer, complete cardiac evaluation at regular intervals is mandatory and should be part of their routine assessment.

Deformation-induced phase transformation in 4H–SiC nanopillars

“…3c. Although the diffraction pattern was not on a zone axis due to the single tilting nature of the TEM holder, a clear 4H-SiC related diffraction feature [36] was observed. At the dark cluster regions indicated by dotted arrows in Fig.…”

Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)

“…The signs of ventricular hypertrophy on ECG recordings may be less common than the hypertrophy diagnosed using echocardiographyin the corresponding patients since the GAGs are electrically less conductive [24]. This electrical conduction impairing property of GAGs together with increased anterior-posterior diameter of the chest may be the cause of low voltage R wave in V6 in MPS VI patients [9]. Other abnormalities like non-specific T-wave abnormalities, precordial inverted T waves, ST depression, premature ventricular extrasystoles and supraventricular tachyarrhythmias (atrial flutter) have also been reported [9,25,26].…”

“…Clinical features include short stature, coarse facial features, stiff joints, skeletal malformations (dysostosis multiplex), respiratory and cardiovascular disorders, corneal clouding, and hepatosplenomegaly. Cardiac impairment representing a serious clinical problem in MPS VI [5], leads to increased morbidity and premature mortality in affected patients [5][6][7][8][9][10].…”

“…On auscultation the great majority of patients with MPS VI present with some murmurs, which are mostly related to mitral valve regurgitation (pansystolic murmur). Dynamic left ventricular outflow tract constriction due to ventricular septum hypertrophy may result in a nonspecified systolic murmur which can also be heard [9].…”

Experimental Impact of Mucopolysaccharidosis on Right Atrial Contractile Capacity of Skinned Fibers

“…All these studies allow assumptions, derived from these observation, but concrete analysis of atrial contractility in patients with MPS are missing. The importance of MPS for cardiac contractility can be seen in a study of Chen, who examined 27 boys (age 2-11 years) with Hunter syndrome: only 5 patients had normal echocardiographic and/or autopsy results, 19 had changes in mitral valve, 5 had changes in aortic valve and 10 patients had already signs of heart disease [13]. So MPS does not only affect cardiac heart valves, but also the whole cardiac contractility.…”