Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.

AIMS

Fabry cardiomyopathy (FC) is characterized by progressive left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive in detecting preclinical FC before the development of LVH. We aim to investigate whether myocardial deformation analysis is useful to detect preclinical FC before LVH.

METHODS AND RESULTS

One hundred and sixty patients carrying mutated gene were prospectively enrolled, including 86 patients without LVH and 74 patients with LVH. Another 33 healthy individuals were also included for comparison. Standard transthoracic two-dimensional, Doppler, tissue Doppler echocardiography and deformation analysis were performed. The mean age of the overall 193 subjects was 48 ± 15 years, with 51% men. Fabry patients with LVH were older, more often to be men. They also had the worst diastolic function as evidenced by the largest left atrium, lowest E/A, and highest E/e' ratio. The global longitudinal strain (GLS) deteriorated with the development of LVH (control vs. LVH- patients vs. LVH+ patients = -21.2 ± 2.7 vs. -19.0 ± 2.9 vs. -16.5 ± 4.2%, P < 0.001). Despite similar LV systolic, diastolic function, and LV mass, LVH- Fabry patients still had a reduced GLS as well as regional longitudinal strains at mid-to-apical, anterior, and inferolateral wall when compared to healthy subjects. The basal longitudinal strain was consistently worse in male patients than in female patients, irrespective of LVH.

CONCLUSION

Reduced GLS could be a marker of early FC before the development of LVH.