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Cardiac involvement in Anderson–Fabry disease

Identifieur interne : 005D76 ( Main/Exploration ); précédent : 005D75; suivant : 005D77

Cardiac involvement in Anderson–Fabry disease

Auteurs : Filippo Maria Cauti [Italie] ; Constantinos O'Mahony [Royaume-Uni] ; Antonis Pantazis [Royaume-Uni]

Source :

BMJ Case Reports [ 1757-790X ] ; 2010.

RBID : ISTEX:BF5C03598A2BDE3F4A528527018650927E0DAA1D

Abstract

A normotensive 50-year-old man was evaluated for cardiac symptoms associated with left ventricular hypertrophy (LFH). His symptoms were caused by cardiac involvement from Anderson–Fabry disease (AFD), an X linked lysosomal storage disease caused by mutations in the GLA gene which encodes for the lysosomal enzyme -galactosidase A. He was treated with recombinant enzyme but the clinical course was complicated by arrhythmias and the patient required an internal cardioverter defibrillator. Even though AFD is rare, this case illustrates the importance of considering the diagnosis in selected patients as effective treatment has recently become available. Recognition of AFD also allows for screening of asymptomatic relatives who may benefit from treatment before irreversible life-threatening complications develop.

Url:

DOI: 10.1136/bcr.02.2010.2760

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">A normotensive 50-year-old man was evaluated for cardiac symptoms associated with left ventricular hypertrophy (LFH). His symptoms were caused by cardiac involvement from Anderson–Fabry disease (AFD), an X linked lysosomal storage disease caused by mutations in the GLA gene which encodes for the lysosomal enzyme -galactosidase A. He was treated with recombinant enzyme but the clinical course was complicated by arrhythmias and the patient required an internal cardioverter defibrillator. Even though AFD is rare, this case illustrates the importance of considering the diagnosis in selected patients as effective treatment has recently become available. Recognition of AFD also allows for screening of asymptomatic relatives who may benefit from treatment before irreversible life-threatening complications develop.</div>
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Cardiac involvement in Anderson–Fabry disease

Cardiac involvement in Anderson–Fabry disease

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Abstract

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Le document en format XML

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