Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene
GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular
sphingolipids accumulation and multiorganic achievement.
If renal complication is principally responsible of the pejorative evolution of the disease,
it may also exist a cardiac achievement, symptomatic or not (heart failure symptoms including
dyspnea, conduction abnormalities, supra-ventricular and ventricular arrhythmias), with or
without left ventricular hypertrophy (LVH).
Administration of agalsidase-α or ß, a genetic engineering synthetic equivalent of the
deficient enzyme, should significantly slow disease evolution indeed reduce LVH.
Some patients with Fabry disease without LVH should present, compared to healthy subjects,
indirect early markers of intramyocyte lipid overload:
- in echocardiography, longitudinal myocardial deformation (strain) should be altered
while ejection fraction is preserved, and
- in cardiac MRI, T1 mapping should be reduced1. This was also previously demonstrated in
Fabry patients with LVH2. However, are these abnormalities of longitudinal deformation
in echocardiography and of T1 mapping in MRI correlated to the presence of pejorative
cardiac markers (such as clinical and functional tolerances, Brain Natriuretic Peptide
(BNP) level and electrical complications)?