Introduction: Fabry disease (FD) is a systemic genetic disease, which is known to involve the heart with a hypertrophic cardiomyopathy phenotype. Several studies on cardiac magnetic resonance (cMR) have shown the important prognostic value of myocardial fibrosis shown by late gadolinium enhancement (LGE) in FD. It was demonstrated that LGE presence can influence both the presence of ventricular arrhythmias and the unresponsiveness to enzyme replacement therapy, which is itself a predictor of survival.
Objective: We sought to demonstrate whether echocardiographic parameters can predict the presence of myocardial LGE by cMR.
Methods: From the 42 FD patients prospectively inclu-ded in the FD registry at our institution, we selected 19 patients who had undergone complete echo exams with deformation analysis by 2DST and contrast enhanced cMR; the other 22 patients were excluded from the study group on the basis of contraindication for con-trast cMR (severe renal failure, presence of a pace-maker, claustrophobia, refusal to perform cMR). Late gadolinium enhancement images were acquired 15 min after injection of 0.2 mmol/dl of Gadolinium and analyzed with a semi-automated algorithm. The statis-tical predictive power of echographic parameters was analyzed using one-way ANOVA and cut-off values for each variable were obtained by calculating Youden\’s index (J) on ROC curves.
Results: The average age of the patients was 41.1±12.1 years, 9 were men (47.3%). 4 patients had LGE pre-sent. The echographic variables that showed predictive value (p<0.05) for presence of LGE are the following: Maximum LV diastolic wall thickness (mm) – non-LGE 11.0±1.5; LGE 20.2±7.9; p>0.001; cut-off 14.00; LV indexed mass (g/m²) – nonLGE 87.3±18.0; LGE 226.0±144.5; p=0.001; cut-off 137.21; Papilary muscle area (cm²) – nonLGE 2.0±0.9; LGE 4.2±1.5; p=0.003; cut-off 2.45; LA volume index (ml/m²) – nonLGE 28.6±7.4; LGE 49.30±14.0; p=0.001; cut-off 45.47; Sep-tal S\› (cm/s) – nonLGE 8.2±1.1; LGE 5.7±1.5; p=0.002; cut-off 6.80; Septal E\› (cm/s) – nonLGE 9.1±2.5; LGE 4.0±2.2; p=0.002; cut-off 7.50; E/E\› – nonLGE 10.3±3.2 ; LGE 21.4±9.7; p=0.001; cut-off 17.87; LV GLS (%) – nonLGE -18.2±2.4; LGE -14.1±5.1; p=0.010; cut-off -15.45; LV Infero-lateral long strain (%) – non-LGE -13.6±5.2; LGE -7.4±6.1; p=0.032; cut-off -13.50; RV free wall (mm) – nonLGE 5.1±1.2; LGE 7.5±3.1; p=0.027; cut-off 6.50.
Conclusions: Echocardiography could be used to pre-dict the presence of myocardial scar, which can be es-pecially useful in clinics where cMR availability is re-duced. Most of the statistically significant parameters in the present study are in accordance with other pu-blished data on the same subject. A larger sample size would be needed to create a reliable multivariate model of predicting LGE for clinical use.