Cardiac MRI in Fabry disease

Abstract

Fabry disease is a rare, progressive X-linked inherited disorder of glycosphingolipid metabolism due to a deficiency of α-galactosidase A enzyme. It leads to the accumulation of globotriaosylceramide within lysosomes of multiple organs, predominantly the vascular, renal, cardiac, and nervous systems. Fabry cardiomyopathy is characterized by increased left ventricular wall thickness/mass, functional abnormalities, valvular heart disease, arrhythmias, and heart failure. Early diagnosis and treatment are critical to avoid cardiac or renal complications that can significantly reduce life expectancy in untreated FD. This review will focus on the role of cardiovascular magnetic resonance imaging in the diagnosis, clinical decision-making, and monitoring of treatment efficacy.

Keywords: Fabry disease; cardiomyopathy; feature tracking; left ventricular hypertrophy; magnetic resonance imaging; myocardial mapping.

FIGURE 1

Cardiovascular magnetic resonance (CMR) assessment in Fabry disease (FD). (A) Steady state free precession (SSFP) CINE short-axis view showing increased wall thickness of mid-inferoseptum measuring 22 mm. (B) Dark-blood T2 short inversion-time, inversion-recovery (STIR) image showing myocardial edema (arrowheads) in the basal inferolateral wall (BIFL). (C) Late gadolinium enhancement (LGE) imaging showing mid-myocardium BIFL LGE in short-axis view. (D) Native T2 mapping showing high myocardial T2 value in BIFL (54 ms; normal reference value 45 ± 2 ms for this 1.5 T scanner). (E) Native T1 mapping showing low myocardial T1 value in the septum (812 ms; normal reference value 984 ± 18 ms for this 1.5 T scanner). (F) Native T1 mapping in advance disease showing pseudonormalization of T1 value in the septum and increased T1 in the BIFL. (G) Long-axis CINE SSFP image with color-coded myocardial longitudinal strain map. (H) Short-axis CINE SSFP image with color-coded myocardial circumferential strain map. (I) Decreased global longitudinal strain of −13.2%, as the enlarged scale on the Y-axis showed [adapted from Roller et al. (16)].