Persistent increase in cardiac troponin I in Fabry disease: a case report
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
BMC Cardiovascular Disorders 2011, 11:6 doi:10.1186/1471-2261-11-6Published: 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.
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.