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

BMC Cardiovascular Disorders

Case Report

Arndt Rolfs¹  Wolfgang Franzen²  Andreas Feustel³  Nicole Sieweke⁴  Christian Tanislav⁴  Frank Reichenberger⁵  Christian Schneider⁶  Oliver Wüsten⁶ 

[1] Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany;Department of Cardiology, Justus Liebig University, Giessen, Germany;Department of Nephrology, Justus Liebig University, Giessen, Germany;Department of Neurology, Justus Liebig University, Giessen, Germany;Department of Pulmonology, Justus Liebig University, Giessen, Germany;Department of Radiology, Justus Liebig University, Giessen, Germany;

关键词: Left Ventricular Hypertrophy;    Late Gadolinium Enhancement;    Enzyme Replacement Therapy;    Fabry Disease;    Cardiac Troponin;   

DOI  :  10.1186/1471-2261-11-6

 received in 2010-12-06, accepted in 2011-01-31,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundHypertrophic 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 PresentationIn 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.ConclusionsOur 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.

【 授权许可】

CC BY   
© Tanislav et al; licensee BioMed Central Ltd. 2011