Open Access Case report

Persistent increase in cardiac troponin I in Fabry disease: a case report

Christian Tanislav1*, Andreas Feustel2, Wolfgang Franzen3, Oliver Wüsten4, Christian Schneider4, Frank Reichenberger5, Arndt Rolfs6 and Nicole Sieweke1

Author Affiliations

1 Department of Neurology, Justus Liebig University, Giessen, Germany

2 Department of Nephrology, Justus Liebig University, Giessen, Germany

3 Department of Cardiology, Justus Liebig University, Giessen, Germany

4 Department of Radiology, Justus Liebig University, Giessen, Germany

5 Department of Pulmonology, Justus Liebig University, Giessen, Germany

6 Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany

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BMC Cardiovascular Disorders 2011, 11:6  doi:10.1186/1471-2261-11-6

Published: 31 January 2011



Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD) - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A. In FD an elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI) has been reported in case of clinical manifestation suggestive of myocardial ischemia. In diagnosing acute myocardial infarction cTNI is considered the most reliable parameter.

Case Presentation

In the referred case we present a 59 years old female patient with the diagnosis of FD presenting with persistently increased cTNI level (lowest value 0.46 ng/ml, highest value 0.69 ng/ml; normal range <0.05 ng/ml) over a period of 5 months lacking cardiac clinical signs. Since renal insufficiency did not explain the degree of cTNI elevation, this was interpreted as a result of cardiac involvement in FD. Cardiac MRI showed marked left ventricular hypertrophy and focal late Gadolinium enhancement.


Our case report demonstrates a persistent cTNI release in FD with cardiac involvement. Proving the persistence in a symptom free interval, it might be related to a direct damage of myocytes. In FD cTNI could serve as a beneficial long term parameter providing new perspectives for screening strategies.