Cardiovascular damage in parents of patients with mucopolysaccharidoses

Abstract

AbstractMucopolysaccharidoses (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 carriers with MPS are poorly understood, which was the purpose of our work.In 2022 year 21 parents (81% female) of children with MPS were examined.The median (25th and 75th percentiles) of age was 36 (33; 37) years. All MPS carriers-parents underwent a standard clinical and laboratory examination, ECG, echocardiography, 24-hour Holter ECG monitoring.There were no confirmed myocardial and brain infarctions, diabetes mellitus in the examined carriers. Arterial hypertension was diagnosed in 14.3% of carriers. A decrease in LV ejection fraction <40% was found in 4.8%, up to 40-50% in 9.5% of carriers. LV wall thickness ≥1.5 cm was detected in 66.7% of carriers, asymmetric LVH in 85.7%. Thickening of the mitral valve leaflets (MV) was detected in 76.2% of carriers. Hydropericardium was detected in 23.8% of carriers. Atrial fibrillation was registered in 4.8%, atrial flutter - in 4.8%, paroxysmal supraventricular tachycardia - in 33.3%, sinus bradycardia - in 14.3%; conduction disorders - in 71.4% of carriers. A short PR interval was detected on the ECG 9.5% of carriers. A prolonged QT interval was registered in 14.3% of carriers, transient ST-segment depression in 47.6%, ST-segment elevation in 14.3% of carriers.Our results suggest the possibility of clinical manifestations of cardiac involvement in MPS carriers.