Evaluation of Ventricular Arrhythmia Risk in Cystinosis Patients; Cardiac Electrophysiological Balance Index (iCEP)

Abstract Background Cystinosis disease (CD) is a metabolic disease that causes multiorgan involvement, primarily in the kidneys, due to lysosomal cystine accumulation. Cardiovascular system dysfunction occurs in CD due to cystine accumulation in myocardial and vascular structures. Our objective is to evaluate the cardiovascular system in CD, define possible damage mechanisms, and predict possible pathologies. Methods The study was conducted with CD patients under 18 years old followed up in Diyarbakır Children's Hospital between January 2020 and January 2023. A healthy control group with similar age and gender was selected. Demographic data, electrocardiography, and echocardiographic evaluation measurements were noted. Results Thirty children (15 in the CD group and 15 in the control groups) were included in the study. The left ventricular wall thickness, left ventricular end-diastolic diameter, EF, and FS values were similar in both groups. With tissue Doppler echocardiography (TDE), mitral and triscuspid e' velocities were significantly lower in the CD group, and mitral and tricuspid mpi' values were significantly higher in the CD group. MAPSE and TAPSE values were significantly lower in the CD group. PWD, QTc, QT-d, Tpe, Tpe/QT ratio, Tpe/QRS ratio, and QTc/QRS ratio values were found to be significantly higher in the CD group than in the control group. Conclusion We found that the CD group had ventricular dysfunction (systolic and diastolic) and an increased atrial and ventricular tachyarrhythmia risk. This suggests that CD should be monitored more closely in terms of cardiac function and that the preservation of kidney function tests may also protect against cardiac effects.