# An echocardiographic prognostic risk stratification decision tree to determine adverse events in Anderson-Fabry disease

## TL;DR

A new decision tree using echocardiographic data helps predict adverse events in Anderson-Fabry disease patients.

## Contribution

A novel echocardiographic decision tree for risk stratification in Anderson-Fabry disease is developed and validated.

## Key findings

- LV and LA strain parameters were significantly reduced in AFD patients compared to controls.
- A prognostic decision tree using LV wall thickness, LAVImax, and LV GLS effectively stratified patients into risk groups.
- High-risk patients had a 64.3% chance of experiencing adverse events, while low-risk patients had 0%.

## Abstract

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.

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).

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.

Graphical AbstractAn echocardiographic prognostic risk decision tree to determine adverse events was developed using 56 AFD patients from a single centre. Those that had normal wall thickness were classed as low risk (0). If a patient had increased wall thickness, they were classed as intermediate risk (1). If a patient had increased wall thickness and abnormal LV GLS or moderately/severely dilated left atrium they were classed as high risk (2). Patients classed as low and intermediate risk had better outcomes, with 0/28 and 2/11 (18.2%) experiencing an AFD-related event respectively. Patients classed as high risk performed worse with 9/14 (64.3%) experiencing an AFD-related event.

An echocardiographic prognostic risk decision tree to determine adverse events was developed using 56 AFD patients from a single centre. Those that had normal wall thickness were classed as low risk (0). If a patient had increased wall thickness, they were classed as intermediate risk (1). If a patient had increased wall thickness and abnormal LV GLS or moderately/severely dilated left atrium they were classed as high risk (2). Patients classed as low and intermediate risk had better outcomes, with 0/28 and 2/11 (18.2%) experiencing an AFD-related event respectively. Patients classed as high risk performed worse with 9/14 (64.3%) experiencing an AFD-related event.