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


METHODS
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.


RESULTS
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.


CONCLUSIONS
Elevated cTnI levels are common in FD patients, reflecting cardiac involvement. FD patients might benefit from a continuous cTnI monitoring.
Department of Neurology, Justus Liebig University, Giessen, Germany.
Christian
C
Tanislav
Department of Cardiology and Angiology, Justus Liebig University, Giessen, Germany.
Dursun
D
Guenduez
Kerckhoff Heart and Thorax Center, Department of Cardiology, Bad Nauheim, Germany.|German Centre for Cardiovascular Research (DZHK), partner site RheinMain, Frankfurt am Main, Germany.
Christoph
C
Liebetrau
Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany.
Anne Kathrin
AK
Giese
Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany.|Centogene, Rostock, Germany.
Sabrina
S
Eichler
Department of Neurology, Justus Liebig University, Giessen, Germany.
Nicole
N
Sieweke
Department of Clinical Chemistry, Justus Liebig University, Giessen, Germany.
Maria
M
Speth
Department of Cardiology and Angiology, Justus Liebig University, Giessen, Germany.
Timm
T
Bauer
Department of Cardiology and Angiology, Justus Liebig University, Giessen, Germany.|Kerckhoff Heart and Thorax Center, Department of Cardiology, Bad Nauheim, Germany.|German Centre for Cardiovascular Research (DZHK), partner site RheinMain, Frankfurt am Main, Germany.
Christian
C
Hamm
Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany.|Centogene, Rostock, Germany.
Arndt
A
Rolfs
D000367:Age Factors; D015415:Biomarkers / Q000097:blood; D000795:Fabry Disease / Q000097:blood*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000097:blood; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D012727:Sex Characteristics; D019210:Troponin I / Q000097:blood*
D015415:Biomarkers; D019210:Troponin I