Heart damage in mucopolysaccharidosis

• Main Authors: M. I. Dovgan, Yu. M. Belozerov, A. N. Semyachkina
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2016-03-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; lysosomal storage diseases; mucopolysacharides; cardiovascular system; diagnosis; treatment
• Online Access: https://www.ped-perinatology.ru/jour/article/view/252

The paper gives the data available in the literature on the current classification, genealogy, clinical manifestations, diagnosis, treatment, and prevention of mucopolysaccharidosis, one of the most common nosological entities of lysosomal storage diseases. Particular emphasis is laid on cardiovascular pathology in this group of diseases. Heart damage is ascertained to be one of the cardinal signs of mucopolysaccharides frequently leading to rather early fatal outcomes. Cardiac pathology is notified in all types of muco-polysaccharidoses; however, it is most important for patients with three clinical variants of Hurler syndrome, Hunter syndrome, and Maroteaux-Lamy syndrome. According to the data available in the literature, the characteristic signs of cardiovascular system damage in mucopolysaccharides should be considered to be: thickening of the valves with the development of their dysfunction (the severity of left-sided valve lesion being more pronounced), myocardial hypertrophy, conduction disturbance, coronary artery lesion, and arterial hypertension. Many investigators emphasize difficulties in clinically and functionally examining the cardiovascular system in patients with mucopolysaccharides, which is due to physical and intellectual limitations in the patients and to a gradual progression of symptoms. Medical and surgical methods were used to treat cardiovascular disease in mucopolysaccharides. Enzyme replacement therapy and hematopoietic stem cell transplantation have become much more topical in the past years. These methods may stop disease progression and favor regression of ventricular hypertrophy and stabilization of left ventricular function.