1. Cardiac Troponin I: A valuable biomarker indicating the cardiac involvement in Fabry disease

Cardiac Troponin I: A valuable biomarker indicating the cardiac involvement in Fabry disease

Prof. Christian Tanislav, MD 1 Dursun Guenduez, MD 1 Christoph Liebetrau, MD 2, 3 Anne Katrin Giese, MD 4 Sabrina Eichler, PhD 4, 5 Nicole Sieweke, MD 1 Maria Speth, MD 1 Prof. Timm Bauer, MD 1 Prof. Christian Hamm, MD 1, 2, 3 Prof. Arndt Rolfs, MD 5, 4
1 Justus Liebig University Giessen 2 Kerckhoff Heart and Thorax Center Bad Nauheim 3 German Centre for Cardiovascular Research (DZHK) Frankfurt/Main 4 University of Rostock 5 CENTOGENE AG
June 20, 2016

PLoS ONE 11(6)
DOI:10.1371/journal.pone.015764

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females [ 1 – 4 ]. The intracellular storage affects different organ systems, causing severe alteration. Left ventricular hypertrophy indicates cardiac involvement in FD and is associated with a poor long-term outcome [ 5 ]. Since FD can be treated effectively, biomarkers for indicating the disorder and for monitoring the course of the disease are important [ 6 – 8 ]. Cardiac troponins I and T (cTnI and cTnT) are known to reflect acute and chronic myocardial injury. The introduced more sensitive cardiac troponin (cTn) assays now used in daily clinical practice have expanded the potential uses of troponin monitoring from risk stratification of patients with suspected acute coronary syndromes and diagnosis of myocardial infarction to mortality prediction of assumedly stable patients with coronary artery disease [ 9 – 11 ]. With this higher sensitivity the detection of minor myocardial injuries and/or myocardial stress is possible in patients with cardiac diseases other than coronary artery disease or acute myocar- dial infarction [ 12 – 14 ]. Approximately 60% of FD patients suffer from cardiac involvement, and few case series have demonstrated that cTnI levels are elevated in these patients [ 15 – 17 ]. Due to accumulation of sphingolipids in myocytes a continuous damage might lead to permanent elevation of troponins, which occurs without clinical correlates as known in acute myocardial ischemia [ 15 , 16 ]. The aim of the present study was to evaluate the diagnostic value of cTnI using a contemporary sensitive troponin I assay in order to discriminate FD patients with cardiac involvement in a large FD patient cohort.