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 Printable version |
Fabry disease: a systemic disease |
MT Cardio. Volume 2, Number 3, 355-65, Mai-Juin 2006, Revues
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 Résumé
Article gratuit
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Author(s) : Olivier Lidove, Bernard Iung, Eric Brochet, Dominique Himbert, Floriana Deliu, Jean-Pierre Laissy, Emmanuel Andrès, Thomas Papo |
Summary : Phenotypes of Fabry disease usually include cardiac manifestations. This is an X-linked disease. Females are not only carriers but they are also sometimes affected with severe organ involvements. All the cardiac structures may be involved. To make a diagnosis of Fabry disease is important because a specific therapy has been available since 2001. A genealogical tree has to be made when a proband is identified. |
Keywords : Fabry disease, hypertrophic cardiomyopathy, enzyme replacement therapy, pedigree |
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