Usefulness of Native T1 in Cardiac Magnetic Resonance Imaging and Echocardiographic Strain Parameters for Detecting Early Cardiac Involvement in Fabry Cardiomyopathy.

Background: Non-invasive diagnosis of disease stage in Fabry cardiomyopathy with multimodality imaging is pivotal when deciding on the appropriate time to initiate enzyme replacement therapy. However, this approach has not been well established.

Methods and results: We enrolled 14 patients with Fabry disease. All patients were evaluated using echocardiography and contrast cardiac magnetic resonance (CMR), and were divided into either an early-stage group without left ventricular hypertrophy (LVH; wall thickness >12 mm) or late gadolinium enhancement (LGE; n=7; median age 37 years; 4 female), or an advanced-stage group with LVH and/or LGE (n=7; median age 66 years; 7 female). Strain data from echocardiography and T1 mapping on CMR were compared between the groups. In the advanced-stage group, all strain data were impaired. In the early-stage group, localized longitudinal strain in the basal posterolateral segment was already reduced but both localized and global circumferential strain remained preserved. On CMR analysis, global and localized native T1 shortening were observed in the early-stage group, but were pseudo-normalized in the advanced-stage group. In logistic regression analysis, localized circumferential strain had significant diagnostic value for differentiating between early- and advanced stage (P=0.037) and significantly improved the predictive power of the model containing localized native T1 in CMR.

Conclusions: A combination of localized native T1 in CMR and echocardiographic strain parameters could be useful for staging Fabry cardiomyopathy.