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Virchows Archiv A

, Volume 417, Issue 5, pp 449–455 | Cite as

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

Report on a case simulating hypertrophic non-obstructive cardiomyopathy
  • M. Elleder
  • V. Bradová
  • F. Smíd
  • M. BudĚšínský
  • K. Harzer
  • B. Kustermann-Kuhn
  • J. Ledvinová
  • BĚlohlávek
  • V. Král
  • V. Dorazilová
Case Report

Summary

Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha — galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.

Key words

Fabry's disease Cardiomyopathy 

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • M. Elleder
    • 1
  • V. Bradová
    • 1
  • F. Smíd
    • 1
  • M. BudĚšínský
    • 5
  • K. Harzer
    • 4
  • B. Kustermann-Kuhn
    • 4
  • J. Ledvinová
    • 2
  • BĚlohlávek
    • 3
  • V. Král
    • 6
  • V. Dorazilová
    • 1
  1. 1.1st Institute of PathologySchool of MedicinePrague 2Czechoslovakia
  2. 2.Laboratory for ProteosynthesisSchool of MedicineCzechoslovakia
  3. 3.2nd Internal ClinicSchool of MedicineCzechoslovakia
  4. 4.Laboratory for Neurochemistry, Institute for Brain ResearchUniversity of TubingenGermany
  5. 5.Institute of Organic Chemistry and BiochemistryCzechoslovak Academy of SciencesPrague
  6. 6.Laboratory of Physiological RegulationsCzechoslovak Academy of SciencesPrague

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