A comprehensive review of mucopolysaccharidosis type I, II, and VI, cardiac manifestations and management
General Medicine, 2025, 27(3), 37-47.
A. Temaj1, Y. Gashi1, N. Nuhii1, D. Selmani1, I. Besimi1, M. Xhetani2, K. Xharra3, S. Xharra3, G. Temaj4
1 Department of Pharmacy, Faculty of Medical Sciences, State University of Tetovo – Tetovo, North Macedonia
2 Department of Biology, Faculty of Natural Sciences, University of Tirana – Tirana, Albania
3 Regional Hospital – Prizren, Kosovo
4 Human Genetics, College UBT, Faculty of Pharmacy – Prishtina, Kosovo
Abstract. The deficiency of the enzymes that participate in the degradation of the glycosaminoglycans (GAGs) causes a group of rare genetic diseases called mucopolysaccharidoses (MPSs). With over 6,000 identified rare diseases affecting more than 300 million individuals globally, MPSs represent a significant subset, characterized by the accumulation of GAGs in various tissues and organs, leading to multi-organ dysfunction. This review focuses on the cardiac manifestations associated with MPS I, II, IV and VI, which have prevalence of 60-100% of affected individuals. Cardiac abnormalities include valvular defects, cardiac hypertrophy, and arrhythmias, significantly impacting morbidity and mortality rates. The review highlights the importance of early diagnosis and management strategies, including hematopoietic cell transplantation and enzyme replacement therapy and how the outlook varies according to the specific gene mutations, severity of cardiac involvement, therefore necessitat- ing personalization of patient care. Understanding the complex interplay between genetic mutations and cardiac pathology is crucial for optimizing management strategies in patients with MPS.
Key words: mucopolysaccharidoses, cardiac abnormalities, immunomodulation, therapy
Address for correspondence: G. Temaj, e-mail: , S. Xharra, e-mail: