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

Abstract

Primary hyperoxaluria type 1 (PH1) is a rare recessive autosomal disorder characterized by systemic calcium oxalate depositions, that results in renal failure and systemic oxalosis.We report a 38-yearold male with cardiac oxalosis, a severe complication of PH1, 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.

Key Words:

• primary hyperoxaluria type 1
• myocardial oxalosis
• heart failure
• mitral regurgitation