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Cardiac involvement in Anderson–Fabry disease

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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 : PMC:3029827

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029827

DOI: 10.1136/bcr.02.2010.2760
PubMed: 22767366
PubMed Central: 3029827

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PMC:3029827

Le document en format XML

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<author><name sortKey="Cauti, Filippo Maria" sort="Cauti, Filippo Maria" uniqKey="Cauti F" first="Filippo Maria" last="Cauti">Filippo Maria Cauti</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>Cardiology Department, University of Rome ‘Sapienza’, Via di Grottarossa, Rome, Italy</addr-line>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Cardiology Department, University of Rome ‘Sapienza’, Via di Grottarossa, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="O Mahony, Constantinos" sort="O Mahony, Constantinos" uniqKey="O Mahony C" first="Constantinos" last="O'Mahony">Constantinos O'Mahony</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Inherited Cardiac Diseases Unit, The Heart Hospital, London, UK</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Cardiac Diseases Unit, The Heart Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<author><name sortKey="Pantazis, Antonis" sort="Pantazis, Antonis" uniqKey="Pantazis A" first="Antonis" last="Pantazis">Antonis Pantazis</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Inherited Cardiac Diseases Unit, The Heart Hospital, London, UK</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Cardiac Diseases Unit, The Heart Hospital, London</wicri:regionArea>
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<author><name sortKey="O Mahony, Constantinos" sort="O Mahony, Constantinos" uniqKey="O Mahony C" first="Constantinos" last="O'Mahony">Constantinos O'Mahony</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Inherited Cardiac Diseases Unit, The Heart Hospital, London, UK</addr-line>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Pantazis, Antonis" sort="Pantazis, Antonis" uniqKey="Pantazis A" first="Antonis" last="Pantazis">Antonis Pantazis</name>
<affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Inherited Cardiac Diseases Unit, The Heart Hospital, London, UK</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Inherited Cardiac Diseases Unit, The Heart Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
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<front><div type="abstract" xml:lang="en"><p>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.</p>
<p>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.</p>
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Cardiac involvement in Anderson–Fabry disease

Cardiac involvement in Anderson–Fabry disease

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki