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

Abstract

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 (LAS_R) were significantly lower in male (GLS: 19.38[3.21] vs. 17.8[7.0], P = 0.009; LAS_R: 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; LAS_R: 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; LAS_R: 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, LAVI_max, 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.