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Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease
Christian Tanislav1, Dursun Guenduez2, Christoph Liebetrau3,4
1Department of Neurology, Justus Liebig University, Giessen, Germany.
Insights
Cardiac troponin I (cTnI) elevation is common in Fabry disease (FD) patients, indicating cardiac involvement. Continuous cTnI monitoring may benefit FD patients with cardiac complications.
Area of Science:
- Cardiology
- Genetics
- Biochemistry
Background:
- Fabry disease (FD) is a rare, X-linked, progressive genetic disorder caused by alpha-galactosidase deficiency.
- Assessing cardiac involvement in FD is clinically challenging.
- Cardiac troponin I (cTnI) is a potential biomarker for cardiac damage.
Purpose of the Study:
- To evaluate the diagnostic value of cardiac troponin I (cTnI) in identifying cardiac involvement in Fabry disease patients.
- To assess the correlation between elevated cTnI levels and clinical data in a large cohort of FD patients.
Main Methods:
- Cardiac troponin I (cTnI) levels were measured using a sensitive assay in plasma samples from 62 FD patients.
- Elevated cTnI levels (cut-off ≥0.04 ng/ml) were correlated with clinical data, including left ventricular hypertrophy (LVH).
- A control group of non-FD patients with LVH was included for comparison.
Main Results:
- Elevated cTnI levels were detected in 37% of FD patients, associated with older age and left ventricular hypertrophy (LVH).
- Patients with LVH showed significantly higher cTnI levels (median 0.23 ng/ml vs. 0.02 ng/ml).
- A cTnI level below 0.04 ng/ml demonstrated a high negative predictive value (97%) for the presence of LVH.
Conclusions:
- Elevated cTnI levels are prevalent in FD patients and reflect cardiac involvement.
- Continuous monitoring of cTnI may be beneficial for managing cardiac complications in Fabry disease.
- cTnI shows promise as a biomarker for cardiac involvement in FD.
Objectives:
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.
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