Diane Xavier de Ávila et al. Christine Zomer Dal Molin Josué dos Santos Barbosa Júnior Laís Corrêa de Carvalho … João Padula Rocha Maria Júlia Hallack Moura Davi Orli Machado Grüdtner Raquel Bittencourt
Introduction
Primary Hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by AGXT gene mutations, which encodes the enzyme responsible for metabolizing glyoxylate. This dysfunction leads to glyoxylate accumulation and its conversion to oxalate. This results in elevated oxalate levels, tissue deposition, and organ damage, particularly the kidneys and heart. Cardiac involvement may progress to heart failure (HF) and fatal arrhythmias., An overview of the pathophysiology of PH1 is illustrated in . This report presents two PH1 patients with oxalosis and its cardiac complications. This case series was prepared following the CARE guidelines, submitted and approved by the Ethics Committee of Federal University of Santa Catarina.
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