Heart involvement in Fabry disease: clinical features, cardiac MRI and speckle-tracking echocardiography

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To evaluate the frequency and clinical features of heart involvement in Fabry disease (FD) and diagnostic value of cardiac MRI and speckle-tracking echocardiography.

Material and methods

We enrolled 186 consecutive adult patients with FD (114 males, median age 38.0 years). One hundred sixteen patients underwent cardiac MRI with late gadolinium enhancement (LGE), and 35 patients underwent speckle-tracking echocardiography. We dianosed left ventricular hypertrophy (LVH) when LV wall and/or interventricular septum thickness was ≥12 mm.


Cardiac MRI showed LVH in 58 (50.0%) of 116 patients with FD. In males, it was more frequent and developed earlier than in females. LGE indicating myocardial fibrosis was found in 37.9% of patients with LVH. 14 (63,6%) of 22 patients with severe LVH had end-stage renal disease. Speckle-tracking echocardiography in patients with LVH revealed changes in LV global longitudinal strain and myocardial work despite normal ejection fraction. Atrial fibrillation was the most common manifestation of heart disease both in males and females (8.7% and 5.6% in the total cohort, respectively). Among 186 patients with FD, hypertrophic cardiomyopathy was the first diagnosis in 16 (8.7%) patients who were referred to cardiologist with unexplained LVH manifested by cardiac pain, arrhythmias and/or ECG changes. Eighteen patients (9.7%) died at the median age of 44.5 years mostly suddenly. All deceased patients were males, and 14 of them were treated with hemodialysis.


Symmetric or asymmetric LVH was found in half of patients with FD and was frequently associated with myocardial fibrosis. Two thirds of patients with severe LVH were treated with renal replacement therapy, which was also associated with a significant increase in cardiovascular mortality.

Key words

Fabry disease, left ventricular hypertrophy, cardiac MRI, speckle-tracking echocardiography, mortality.