ArticleEuropean heart journal. Case reports2018
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
Article in European heart journal. Case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Cryptogenic strokes and neurological symptoms of Fabry disease.Frontiers in neurology · 2025Article
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4 authors.
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Abstract
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 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.
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