Abstract
Primary hyperoxaluria type I (PH I) 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.
MeSH terms
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Adult
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Cardiomyopathies / etiology
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Echocardiography
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Heart Failure / etiology*
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Heart Valve Prosthesis Implantation
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Humans
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Hyperoxaluria, Primary / complications*
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Kidney Failure, Chronic / etiology
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Kidney Failure, Chronic / pathology
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Kidney Failure, Chronic / therapy
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Male
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Mitral Valve Insufficiency / diagnostic imaging
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Mitral Valve Insufficiency / etiology*
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Mitral Valve Insufficiency / surgery
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Renal Dialysis
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Tricuspid Valve Insufficiency / diagnostic imaging
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Tricuspid Valve Insufficiency / etiology
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Tricuspid Valve Insufficiency / surgery