https://orcid.org/0000-0003-4165-6113
Fibrofatty infiltration in the left ventricular inferolateral wall by magnetic resonance imaging (MRI) (Figure A,C) or computed tomography (CT) (Figure A,D) was observed in our institutions in two patients with Fabry disease. A,C: MRI of a 71-year-old woman with a pathogenic variant in the GLA gene and an increase in concentration of lyso-Gb3 showing a chemical shift artefact surrounding a fatty infiltration of the inferolateral wall (arrows). B,D: CT of a 52-year-old man with confirmed Fabry disease at the age of 8, complicated with terminal chronic kidney disease and severe neuropathy, treated by Fabrazyme for 22 years. The patient did not undergo an MRI because of an implantable cardioverter defibrillator implanted for ventricular arrhythmia. Fatty infiltration as a decreased attenuation of the whole inferolateral wall is clearly visible (arrows).
Fabry disease is an inherited metabolic disorder with accumulation of glycosphingolipids due to the deficiency of α-galactosidase A enzyme. Thus, low T1 native values in MRI due to lipids accumulations are characteristics of the disease, and a replacement fibrosis of debated aetiology is typically observed using late gadolinium enhancement in the inferolateral wall of the left ventricle. To our knowledge, such fatty infiltration of the inferolateral wall has not been reported in Anderson–Fabry disease. This infiltration might be related with fibrofatty replacement in an end-stage disease as seen in ischaemic cardiopathy or as a consequence of the lipids accumulation due to enzymatic deficiency.
All authors declare no conflict of interest for this contribution. The data underlying this article will be shared on reasonable request to the corresponding author.
All authors declare no funding for this contribution.
