Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in disc...

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Bibliographic Details
Published in:	PloS one Vol. 11; no. 6; p. e0157640
Main Authors:	Tanislav, Christian, Guenduez, Dursun, Liebetrau, Christoph, Giese, Anne Kathrin, Eichler, Sabrina, Sieweke, Nicole, Speth, Maria, Bauer, Timm, Hamm, Christian, Rolfs, Arndt
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 20-06-2016 Public Library of Science (PLoS)
Subjects:	a-Galactosidase Acute coronary syndromes Age Factors Analysis Angina pectoris Bioindicators Biology and Life Sciences Biomarkers Biomarkers - blood Calcium-binding protein Cardiac patients Cardiology Cardiovascular disease Consent Coronary artery disease Coronary vessels Diagnostic systems Enzymes Fabry Disease - blood Fabry's disease Family medical history Female Galactosidase Health aspects Heart attacks Heart diseases Hemodialysis Humans Hypertension Hypertrophy Hypertrophy, Left Ventricular - blood Immunoassay Ischemia Logistic Models Male Males Measurement methods Medical diagnosis Medicine and Health Sciences Middle Aged Mortality Mutation Myocardium - pathology Patients Research and Analysis Methods Risk factors Sex Characteristics Troponin Troponin I Troponin I - blood Ventricle Germany
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Summary:	Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in discriminating FD patients with cardiac involvement in a large FD patient cohort. cTnI levels were measured with a contemporary sensitive assay in plasma samples taken routinely from FD patients. The assay was calibrated to measure cTnI levels ≥0.01 ng/ml. Elevated cTnI values (cut-off ≥0.04 ng/ml) were correlated with clinical data. cTnI was assessed in 62 FD patients (median age: 47 years, males: 36%). Elevated cTnI levels were detected in 23 (37%) patients. Patients with a cTnI elevation were older (median 55 years versus 36 years, p<0.001). Elevated cTnI levels were associated with the presence of a LVH (16/23 versus 1/39; OR 65.81, CI: 6.747-641.859; p<0.001). In almost all patients with a left ventricular hypertrophy (LVH) elevated cTnI levels were detected (16/17, 94%). Absolute cTnI levels in patients with LVH were higher than in those without (median 0.23 ng/ml versus 0.02 ng/ml; p<0.001). A cTnI level <0.04ng/ml had a high negative predictive value regarding the presence of a LVH (38/39, 97%). In a control group of non-FD patients (n = 17) with LVH (due to hypertension) none showed cTnI levels ≥0.01 ng/ml. Elevated cTnI levels are common in FD patients, reflecting cardiac involvement. FD patients might benefit from a continuous cTnI monitoring.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Conceived and designed the experiments: CT DG CL AR. Performed the experiments: CT MS AKG SE. Analyzed the data: CT DG CL AR. Contributed reagents/materials/analysis tools: MS AR AKG SE DG CT. Wrote the paper: CT DG CL AR NS AKG MS TB CH. Reviewed the manuscript: CT DG CL AR NS AKG MS TB CH. Competing Interests: The authors have declared that no competing interests exist.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0157640