Cardiac involvement in Anderson–Fabry disease
Identifieur interne : 000B20 ( Istex/Checkpoint ); précédent : 000B19; suivant : 000B21Cardiac 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.
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:
Links toward previous steps (curation, corpus...)
Links to Exploration step
ISTEX:BF5C03598A2BDE3F4A528527018650927E0DAA1DLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cardiac involvement in Anderson–Fabry disease</title>
<author><name sortKey="Cauti, Filippo Maria" sort="Cauti, Filippo Maria" uniqKey="Cauti F" first="Filippo Maria" last="Cauti">Filippo Maria Cauti</name>
</author>
<author><name sortKey="O Mahony, Constantinos" sort="O Mahony, Constantinos" uniqKey="O Mahony C" first="Constantinos" last="O'Mahony">Constantinos O'Mahony</name>
</author>
<author><name sortKey="Pantazis, Antonis" sort="Pantazis, Antonis" uniqKey="Pantazis A" first="Antonis" last="Pantazis">Antonis Pantazis</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:BF5C03598A2BDE3F4A528527018650927E0DAA1D</idno>
<date when="2010" year="2010">2010</date>
<idno type="doi">10.1136/bcr.02.2010.2760</idno>
<idno type="url">https://api.istex.fr/document/BF5C03598A2BDE3F4A528527018650927E0DAA1D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">005994</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005994</idno>
<idno type="wicri:Area/Istex/Curation">005994</idno>
<idno type="wicri:Area/Istex/Checkpoint">000B20</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000B20</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Cardiac involvement in Anderson–Fabry disease</title>
<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"><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"><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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pantazis, Antonis" sort="Pantazis, Antonis" uniqKey="Pantazis A" first="Antonis" last="Pantazis">Antonis Pantazis</name>
<affiliation wicri:level="3"><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>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">BMJ Case Reports</title>
<title level="j" type="abbrev">BMJ Case Reports</title>
<idno type="eISSN">1757-790X</idno>
<imprint><publisher>BMJ Publishing Group Ltd</publisher>
<date type="published" when="2010">2010</date>
<biblScope unit="volume">2010</biblScope>
</imprint>
</series>
<idno type="istex">BF5C03598A2BDE3F4A528527018650927E0DAA1D</idno>
<idno type="DOI">10.1136/bcr.02.2010.2760</idno>
<idno type="href">casereports-2010-bcr-02-2010-2760.pdf</idno>
<idno type="ArticleID">bcr.02.2010.2760</idno>
<idno type="local">casereports;2010/aug23_1/bcr0220102760</idno>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
<affiliations><list><country><li>Italie</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Latium</li>
</region>
<settlement><li>Londres</li>
<li>Rome</li>
</settlement>
</list>
<tree><country name="Italie"><region name="Latium"><name sortKey="Cauti, Filippo Maria" sort="Cauti, Filippo Maria" uniqKey="Cauti F" first="Filippo Maria" last="Cauti">Filippo Maria Cauti</name>
</region>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="O Mahony, Constantinos" sort="O Mahony, Constantinos" uniqKey="O Mahony C" first="Constantinos" last="O'Mahony">Constantinos O'Mahony</name>
</region>
<name sortKey="Pantazis, Antonis" sort="Pantazis, Antonis" uniqKey="Pantazis A" first="Antonis" last="Pantazis">Antonis Pantazis</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B20 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Checkpoint/biblio.hfd -nk 000B20 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Istex |étape= Checkpoint |type= RBID |clé= ISTEX:BF5C03598A2BDE3F4A528527018650927E0DAA1D |texte= Cardiac involvement in Anderson–Fabry disease }}
![]() | This area was generated with Dilib version V0.6.31. | ![]() |