Rare Diseases Symptoms Automatic Extraction

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

[primary hyperoxaluria type 1]

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.

Diseases presenting "cardiomyopathy" symptom

  • fabry disease
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • kindler syndrome
  • lamellar ichthyosis
  • oculocutaneous albinism
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • waldenström macroglobulinemia

This symptom has already been validated