1. Continuous Cardiac Troponin I Release in Fabry Disease

Continuous Cardiac Troponin I Release in Fabry Disease

Andreas Feustel Andreas Hahn Christian Schneider Nicole Sieweke, MD Wolfgang Franzen Dursun Guenduez, MD Prof. Arndt Rolfs, MD Prof. Christian Tanislav, MD
March 13, 2014

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.