Continuous Cardiac Troponin I Release in Fabry Disease

PLoS ONE 9(3): e91757. doi:10.1371/journal.pone.0091757

Background: Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI) elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD.

Methods: cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females) regularly followedup in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI).

Results: Three patients (21%) without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05–0.71 ng/ml, normal: ,0.01). cMRI disclosed late gadolinium enhancement (LGE) in all three individuals with cTNI values $ 0.01, while none of the 11 patients with cTNI ,0.01 showed a pathological enhancement (p,0.01). Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3) in cardiomyocytes.

Conclusion: Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.


  • Andreas Feustel
  • Andreas Hahn
  • Christian Schneider
  • Nicole Sieweke , MD
  • Wolfgang Franzen
  • Dursun Guenduez , MD
  • Prof. Arndt Rolfs , MD
  • Prof. Christian Tanislav , MD

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