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

Background : Primary hyperoxaluria type I (PH I) is an inborn error of metabolism resulting in increased endogenous production of oxalate leading to excessive urinary oxalate excretion, followed with renal damage and consecutive systemic oxalosis, including cardiac affection. Aim of the work: Assessment of cardiac mass and function in patients with primary hyperoxaluria type I using MRI and non-conventional echocardiography.Methods: 22 patients diagnosed as PH type I following in Nephrology Unit, Cairo University Children{u2019}s Hospital underwent cardiac assessment using cardiac MRI and non-conventional echocardiography to assess LV mass and cardiac functions. Results: Patients with GFR less than 30 ml/min./1.73 m2 had greater LV mass and lower EF% than patients with GFR more than 30 ml/min./1.73 m2. By M-mode echocardiography, there are 2 patients (9%) with LV hypertrophy, while by 2D echo and CMR values are within the normal range. (A) wave peak velocity by pulsed wave Doppler was markedly high (mean 87.3 cm/s) in all patients denoting diastolic dysfunction.Conclusion: Patients with PH I have diastolic dysfunction, and LV mass increases with increased renal affection. Echocardiography overestimates LV mass compared to CMR

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