A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers

Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases. Cardiovascular pathology occurs in all types of MPS, represented by valvular defects, myocardial hypertrophy, and coronary artery disease. Cardiovascular abnormalities in parents of patients with MPS are poorly understood, which is the purpose of our work. Methods: During January 2022 to October 2023, a cross-sectional observational study of MPS mutation carriers was conducted in the City Clinical Hospital No. 31, practice base of the Department of Propaedeutics of Internal Disease, Pirogov Russian National Research Medical University, Moscow, Russian Federation. There were 21 consecutive parents of children with MPS examined. All MPS carriers-parents underwent a standard clinical and laboratory examination, electrocardiography (ECG), echocardiography, 24-hour Holter ECG monitoring. Distributions of all parametric characteristics of the patients were not normal, non-parametric criteria were used in statistical calculations. Differences between nominal variables were compared using a Chi-squared test. Fisher's exact test was used when more than 20% of cells with expected frequencies less than 5. P value