Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report

BACKGROUNDFabry disease is an X-linked lysosomal storage disorder due to mutations in the gene encoding for alpha-galactosidase A, with subsequent accumulation of complex sphingolipids in multiple organs, including the heart. Female heterozygotes can develop cardiac involvement although this is usually milder and slower to progress compared with male hemizygotes. CASE SUMMARYA 71-year-old woman with two separate pathological Fabry mutations (N215S, C202R; compound heterozygote) presented with progressive cardiac involvement despite enzyme replacement therapy (ERT) with Replagal, as demonstrated by troponin elevation and cardiovascular magnetic resonance (CMR) findings: moderate segmental left ventricular dysfunction with wall thinning, low myocardial native T1, and extensive late gadolinium enhancement with co-located increased T2. DISCUSSIONWe report for the first time, a detailed cardiac phenotype using CMR in a compound heterozygote Fabry patient with progressive cardiac involvement despite ERT.