Article

Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management

Pediatric Cardiology, University of Minnesota, Minneapolis, MN 55455, USA.
Journal of Inherited Metabolic Disease (Impact Factor: 3.37). 07/2011; 34(6):1183-97. DOI: 10.1007/s10545-011-9359-8
Source: PubMed

ABSTRACT

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality.
The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled.
Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.

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    • "The major organs and systems involved in MPS I are the joints, the skeletal system, the heart, and the nervous system[2]. Cardiac valve disease is a common symptom in MPS I[3]. Currently, the main therapeutic strategies for MPS I are enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation . "
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    ABSTRACT: Mucopolysaccharidosis (MPS) is an inherited metabolic disease caused by deficiency of the enzymes needed for glycosaminoglycan (GAG) degradation. MPS type I is caused by the deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified into Hurler syndrome, Scheie syndrome, and Hurler–Scheie syndrome based on disease severity and onset. Cardiac complications such as left ventricular hypertrophy, cardiac valve disease, and coronary artery disease are often observed in MPS type I. Enzyme replacement therapy (ERT) has been available for MPS type I, but the efficacy of this treatment for cardiac valve disease is unknown. We report on a 56-year-old female patient with attenuated MPS I (Scheie syndrome) who developed aortic and mitral stenosis and coronary artery narrowing. The cardiac valve disease progressed despite ERT and she finally underwent double valve replacement and coronary artery bypass grafting. The pathology of the cardiac valves revealed GAG accumulation and lysosomal enlargement in both the mitral and aortic valves. Zebra body formation was also confirmed using electron microscopy. Our results suggest that ERT had limited efficacy in previously established cardiac valve disease. Early diagnosis and initiation of ERT is crucial to avoid further cardiac complications in MPS type I.
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    • "Based on the ways of microbial penetration in the bone, it evolves hematogenous osteomyelitis and nonhematogenous (posttraumatic). The development of inflammation in bone tissue may be preceded by bone injury and reduce (due to overworking, infectious disease, hypovitaminosis, etc.) total organism's resistance[1]. "

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    • "Overview. Unlike other MPS disorders [Braunlin et al., 2011], cardiac valve abnormalities in Morquio A patients are generally very mild. Occasionally, older patients may develop clinically important cardiac disease post-pubertally. "
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