Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Nephropathic cystinosis is a rare genetic disease characterized by accumulation of the amino acid cystine in lysosomes throughout the body. The main objective of this study is evaluation of cardiac function in cystinosis patients using non- conventional echocardiographic modalities like Tissue Doppler Imaging (TDI) and 2D speckle tracking echocardiography. Methods: This is a case control study that was conducted on fifteen patients with cystinosis and 15 normal controls. Echocardiography was done for all participants and Pulsed Wave Tissue Doppler Imaging (PW-TDI) was performed for measurement of S', E' velocities and myocardial performance index (MPI) at basal parts of septal, left ventricle (LV) and right ventricle (RV) free walls. 2D-STE was done for evaluation of global longitudinal strain (GLS), global circumferential strain (GCS) and global radial strain (GRS) of LV. Mitral E and A velocities and tricuspid annular plan systolic excursion (TAPSE) were also measured

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