Heart failure with mitral valve regurgitation due to primary hyperoxaluria type 1: case report with review of the literature

Primary hyperoxaluria type I (PHI) is a rare recessive autosomal disorder characterized by systemic calcium oxalate depositions, that results in renal failure and systemic oxalosis. We report a 38-year-old male with cardiac oxalosis, a severe complication of PHI, presenting with an infiltrative cardiomyopathy, secondary heart failure and severe mitral regurgitation, necessitating surgical repair to allow combined liver-kidney transplantation. We discuss pathogenesis, diagnostics and therapy of this clinical entity by reviewing literature.