Dataset Information
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
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ABSTRACT: Background
Fabry 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 summary
A 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.Discussion
We report for the first time, a detailed cardiac phenotype using CMR in a compound heterozygote Fabry patient with progressive cardiac involvement despite ERT.
SUBMITTER: McConnell EJ
PROVIDER: S-EPMC6426117 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Publications
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
European heart journal. Case reports 20181207 4
<h4>Background</h4>Fabry 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.<h4>Case summary</h4>A 71-year-old woman with two separate pathological Fabry mutations (N215S, C202R; compound heterozygote) ...[more]