Cardiac Structural Involvement in Mucopolysaccharidoses

Abstract

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4–22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders

“…19 There are many clinical similarities between MPS II and previously discussed MPS I (Hurler syndrome), including dysostosis multiplex. 4,8,11,20 Additional examples of skeletal manifestations seen in dysostosis multiplex other than those previously discussed under MPS I include genu valgum, widening of the diaphysis of long bones, hypoplastic distal ulna and tilted radius, varus deformity of the proximal humerus (Figure 4a), pointed thick and short metacarpals, small and irregular carpal bones, thickened calvarium and a J-shaped sella turcica (Figure 4b). 4,8,9 In contrast to MPS I, seizures and severe psychomotor retardation are more common in the severe form of MPS II.…”

“…4,8,9 Cardiovascular abnormalities observed in MPS I because of GAG infiltration of cardiac tissue include valvular disease, endocardial fibroelastosis, arrhythmias, congestive heart failure, aortic stenosis and myocardial ischaemia. [10][11][12][13][14] In addition, patients with MPS I may suffer from respiratory infections and obstructive sleep apnoea, with GAGs infiltrating into airway soft tissues, cartilage and the thoracic cage. 13,15 GAGs may also accumulate in the central nervous system (CNS), including within the meninges and even adjacent bone.…”

“…27,28 Patients with MPS VII may have similar cardiac manifestations to other MPSs, with the abnormal accumulation of GAGs in cardiac tissue leading to complications of aortic valve stenosis, as seen in Figure 8. [10][11][12][13] As with the other MPSs, the musculoskeletal manifestations in MPS VII include dysostosis multiplex.…”

Genetics and pathophysiology of mammalian sulfate biology

“…3), are associated with cardiovascular pathologies. Six of these genes encode sulfatases which are linked to accumulation of glycosaminoglycans in the heart, leading to cardiac valve dysplasia or cardiomyopathy (Rigante and Segni, 2002;Diez-Roux and Ballabio, 2005). In one reported M A N U S C R I P T…”

Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis

“…Hurler-Scheie syndrome (MPS I), an autosomal recessive disorder, is associated with a deficiency of the lysosomal enzyme α-L-iduronidase. Heart valve abnormalities can originate in MPS I patients by progressive glycosaminoglycan storage, especially in the chordae tendineae and valve structures [1]. Few surgical valve interventions have been reported in patients with MPS I [2][3][4].…”