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Article

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.

European journal of heart failure - 1 Jun 2010

Havndrup Ole, Christiansen Michael, Stoevring Birgitte, Jensen Morten, Hoffman-Bang Jakob, Andersen Paal Skytt, Hasholt Lis, Nørremølle Anne, Feldt-Rasmussen Ulla, Køber Lars, Bundgaard Henning

Abstract excerpt

AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically tested for. METHODS AND RESULTS: We evaluated 90 consecutively recruited HCM probands and their relatives. Probands...

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Source

Identifiers

PMID: 20498269
DOI: 10.1093/eurjhf/hfq073

Genes

GLA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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