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An echocardiographic prognostic risk stratification decision tree to determine adverse events in Anderson-Fabry
Luke Stefani1,2, Anita Boyd3, Jennifer Pham2
1Westmead Clinical School, University of Sydney, Westmead Hospital, Westmead, 2145 NSW, Australia.
Insights
Anderson-Fabry disease (AFD) affects the heart, causing thicker left ventricles (LV). Echocardiography strain parameters reveal early cardiac impairment in AFD patients, aiding in predicting adverse cardiovascular events.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Anderson-Fabry disease (AFD) is an X-linked genetic disorder.
- Cardiac involvement is a common manifestation, often leading to increased left ventricular (LV) wall thickness.
- Speckle tracking echocardiography (STE) offers sensitive assessment of myocardial function and prognostic value in AFD.
Purpose of the Study:
- To evaluate left ventricular (LV) and left atrial (LA) dysfunction using traditional and strain parameters in AFD patients.
- To assess the prognostic utility of these echocardiographic parameters for adverse cardiovascular events.
Main Methods:
- Fifty-six AFD patients were compared with 56 age- and sex-matched healthy controls.
- Echocardiography was used to assess LV global longitudinal strain (GLS) and LA reservoir strain (LASR).
- A prognostic risk decision tree was developed using LV wall thickness, LAVImax, and LV GLS.
Main Results:
- Male and female AFD patients exhibited significantly lower GLS and LASR compared to controls.
- Reduced strain parameters were observed even in female AFD patients with normal LV wall thickness.
- A decision tree incorporating LV wall thickness, LAVImax, and LV GLS showed high predictive value (AUC = 0.910) for adverse cardiac events.
Conclusions:
- Echocardiographic strain parameters reveal significant LV and LA dysfunction in AFD patients, including those without apparent wall thickening.
- The developed prognostic risk decision tree effectively stratifies AFD patients based on their risk of adverse cardiovascular events.
Aims:
Anderson-Fabry disease (AFD) is an X-linked disease, with cardiac involvement resulting in increased left ventricular (LV) wall thickness. Speckle tracking echocardiography analysis may be more sensitive in the assessment of myocardial impairment in AFD patients and have prognostic value. Our aim was to evaluate LV and left atrial (LA) dysfunction by traditional and strain parameters in AFD patients and evaluate prognostic utility.
Methods And Results:
Fifty-six AFD patients were age- and sex-matched to 56 healthy controls. LV global longitudinal strain (GLS) and LA reservoir strain (LASR) were significantly lower in male (GLS: 19.38[3.21] vs. 17.8[7.0], P = 0.009; LASR: 38.07 ± 6.67 vs. 31.12 ± 6.76, P = 0.003) and female (GLS: 20.58 ± 1.63 vs. 19.29 ± 1.67, P = 0.003; LASR: 38.77 ± 7.43 vs. 33.13 ± 6.06, P < 0.001) AFD patients compared with controls. Reduced strain parameters were also seen in female AFD patients with normal wall thickness (GLS: 20.88 ± 1.74 vs. 19.72 ± 1.53, P = 0.037; LASR: 40.09 ± 7.15 vs. 34.79 ± 6.20, P = 0.004). 53/56 AFD patients had a median follow-up of 43[81] months; 11/53 experienced an adverse cardiovascular event (i.e. cardiac death, myocardial infarction, arrhythmias, stroke. and heart failure). LV wall thickness, LAVImax, and LV GLS displayed good sensitivity and specificity for adverse cardiac events. A prognostic risk decision tree comprising of these parameters demonstrated good predictive value for adverse events (AUC = 0.910).
Conclusion:
We demonstrate differences in LV and LA echocardiographic parameters in AFD patients compared with healthy controls, including female AFD patients with normal LV wall thickness. A prognostic risk decision tree stratified AFD patients into three groups with the highest risk group demonstrating more AFD-related adverse events.
