Clinical Research in Cardiology

, Volume 95, Issue 4, pp 235–240

Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II

  • Matthias R. Schulze
  • Rolf Wachter
  • Alexander Schmeißer
  • Rainer Fischer
  • Ruth H. Strasser
CASE REPORT

DOI: 10.1007/s00392-006-0362-2

Cite this article as:
Schulze, M.R., Wachter, R., Schmeißer, A. et al. Clin Res Cardiol (2006) 95: 235. doi:10.1007/s00392-006-0362-2

Summary

This is the first report of a cardiac manifestation of a primary hyperoxaluria type II (PH II) with the hemodynamic characteristics of a severe restrictive cardiomyopathy. PH II is a rare inherited metabolic disease characterized by a deficiency of D–glycerate dehydrogenase, which has also glyoxylate reductase activity. This defect causes an accumulation of hydroxypyruvate the precursor of oxalate. The renal excretion of oxalate is impaired causing a deposition of oxalate mainly in the kidneys. To date, less than fifty cases have been reported. Systemic oxalosis in PH II is an occasional finding; thus far, myocardial oxalosis due to PH II has never been reported. Described is the case of a 41 year old male with renal failure and severe neuropathy of unknown cause, who underwent endomyocardial biopsy under the suspicion of cardiac amyloidosis. Echocardiography and cardiac catherization showed a severe restrictive cardiomyopathy; endomyocardial biopsy established the diagnosis of oxalosis. Plasma oxalate levels were markedly increased, therefore a liver biopsy was performed. Immunoreactivity for D–glycerate dehydrogenase/ glyoxylate reductase was absent and activity of the enzyme was < 5% of normal. In summary, these findings established the diagnosis of a restrictive cardiomyopathy due to PH II.

Key words

Cardiomyopathy heart failure endomyocardial biopsy hyperoxaluria storage disease 

Copyright information

© Steinkopff-Verlag 2006

Authors and Affiliations

  • Matthias R. Schulze
    • 1
  • Rolf Wachter
    • 1
  • Alexander Schmeißer
    • 1
  • Rainer Fischer
    • 2
  • Ruth H. Strasser
    • 1
  1. 1.Technische Universität DresdenMedizinische Klinik/KardiologieDresdenGermany
  2. 2.Technische Universität DresdenInstitut für PathologieDresdenGermany

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