Left Ventricular Mass and Wall Thickness Measurements Using Echocardiography and Cardiac MRI in Patients with Fabry Disease: Clinical Significance of Discrepant Findings.

Purpose: To compare transthoracic echocardiography (TTE) and cardiac MRI measurements of left ventricular mass (LVM) and maximum wall thickness (MWT) in patients with Fabry disease and evaluate the clinical significance of discrepancies between modalities.

Materials And Methods: Seventy-eight patients with Fabry disease (mean age, 46 years ± 14 [standard deviation]; 63% female) who underwent TTE and cardiac MRI within a 6-month interval between 2008 and 2018 were included in this retrospective cohort study. The clinical significance of measurement discrepancies was evaluated with respect to diagnosis of left ventricular hypertrophy (LVH), eligibility for disease-specific therapy, and prognosis. Statistical analysis included paired-sample test, Cox proportional hazard models, Akaike information criterion (AIC), and intraclass correlation coefficients.

Results: LVM indexed to body surface area (LVMI) and MWT were significantly higher at TTE compared with MRI (105 g/m ± 48 vs 78 g/m ± 36, < .001 and 14 mm ± 4 vs 13 mm ± 5, = .008, respectively). LVH classification was discordant between modalities in 23 patients (29%) ( < .001). Eligibility for disease-specific therapy based on MWT was discordant between modalities in 20 patients (26%) ( < .001). LVMI assessed with MRI was a better predictor of the combined endpoint compared with LVMI assessed with TTE (AIC, 127 vs 131). Interobserver agreement for LVMI and MWT was higher for MRI (intraclass correlation coefficient, 0.951 and 0.912, respectively) compared with TTE (intraclass correlation coefficient, 0.940 and 0.871; respectively).

Conclusion: TTE overestimates LVM and MWT and has lower reproducibility compared with cardiac MRI in Fabry disease. Measurement discrepancies between modalities are clinically significant with respect to diagnosis of LVH, prognosis, and treatment decisions.© RSNA, 2020.