Recognition of pre-hypertrophic cardiac involvement in Fabry Disease based on automated electrocardiographic measures
Mehdi Namdar1, Philippe Richardot1, Nicolas Johner1
1Department of Internal Medicine, Division of Cardiology - Electrophysiology Unit, University Hospital of Geneva, Switzerland.
Insights
Automated electrocardiogram (ECG) measures can identify early cardiac involvement in Fabry Disease (FD) patients before hypertrophy is visible. This method shows high specificity for detecting FD cardiomyopathy in its earliest stages.
Area of Science:
- Cardiology
- Medical Diagnostics
- Genetics
Background:
- Electrocardiographic (ECG) indices aid in recognizing cardiac involvement in Fabry Disease (FD).
- Many current ECG markers lack sufficient sensitivity and specificity for early FD detection.
- Distinguishing pre-hypertrophic FD from healthy individuals using ECG remains challenging.
Purpose of the Study:
- To evaluate the effectiveness of automated ECG measures in differentiating pre-hypertrophic Fabry Disease from healthy individuals.
- To identify specific ECG parameters indicative of early cardiac involvement in FD.
- To assess the diagnostic performance of these measures for FD screening.
Main Methods:
- Compared ECGs from 1496 healthy individuals with 142 FD patients without left ventricular hypertrophy (LVH).
- Analyzed 429 automated ECG measures per individual using stepwise statistical analysis.
- Employed Cramer V, Fisher Linear Discrimination (FLD), and Logistic models to optimize diagnostic performance.
Main Results:
- Identified 9 significant ECG parameters for discriminating between FD patients and healthy controls.
- The combined discriminant score achieved 64% sensitivity and 97% specificity for classifying FD patients.
- Logistic ROC analysis yielded an area under the curve of 0.97, indicating high diagnostic accuracy.
Conclusions:
- A combination of automated ECG measures, identified through stepwise statistical analysis, shows promise for detecting pre-hypertrophic Fabry Disease.
- These findings suggest potential utility for automated ECG in screening for early-stage FD cardiomyopathy.
- Further prospective studies are warranted to confirm these promising results for early FD diagnosis.
Background:
Various electrocardiographic (ECG) indices have been shown to be useful for early recognition and staging of cardiac involvement in Fabry Disease (FD). However, many of them lack acceptable sensitivity and specificity. We assessed the value of automated ECG measures to discriminate between pre-hypertrophic FD and healthy individuals.
Methods And Results:
Normal ECGs from 1496 healthy individuals (57.4% male, age 37.4 ± 13 years) were compared to those of 142 FD patients without LVH (37.3% male, age 41.5 ± 18 years). All ECGs were analyzed centrally and a total of 429 automated ECG measures per individual were included for step-wise analysis. The Cramer V statistic was first used to pick out those parameters which were helpful in discriminating between the two groups and a final selection was made by using two models, namely the FLD (Fisher Linear Discrimination) and the Logistic model, to optimise diagnostic performance for the detection of cardiac involvement in FD patients vs. specificity in healthy individuals. The three-step statistical analysis identified 9 ECG parameters as most significant for the discrimination between the groups. The combined discriminant score yielded 64% sensitivity and 97% specificity for correct classification of FD patients in the test sample with a logistic area under curve of the ROC analysis of 0.97.
Conclusion:
The combination of automated ECG measures identified via a stepwise statistical approach may be useful for detection of FD patients in the pre-hypertrophic stage. These data are promising for screening purposes in the very early stages of FD cardiomyopathy and warrant prospective confirmation.
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