Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
Identifieur interne : 001300 ( Main/Exploration ); précédent : 001299; suivant : 001301Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
Auteurs : Eduardo Back Sternick [Brésil] ; Antonio Oliva [États-Unis] ; Luiz P. Magalhães [Brésil] ; Luiz M. Gerken [Brésil] ; Kui Hong [États-Unis] ; Oto Santana [Brésil] ; Pedro Brugada [Belgique] ; Josep Brugada [Espagne] ; Ramon Brugada [Canada]Source :
- Journal of Cardiovascular Electrophysiology [ 1045-3873 ] ; 2006-07.
English descriptors
- KwdEn :
Abstract
Introduction: PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. Clinico‐pathologic and experimental data suggest the hypothesis of a glycogen storage disease. Objective: To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families. Methods and Results: We studied two large families and found a total of 20 affected individuals showing a combination of sinus bradycardia, short PR interval, RBBB, intra and infrahisian conduction disturbances often requiring a pacemaker, and atrial tachyarrhythmias. Three individuals died suddenly at a young age. No patient had the Wolff‐Parkinson‐White (WPW) syndrome, and only two patients (10%) had myocardial hypertrophy. We performed screening of the exons and exon‐intron boundaries of PRKAG2. Genetic analysis revealed a missense mutation (Arg302Gln) in the affected individuals from both families. This mutation had been described before and has been associated with the familial form of the WPW syndrome and with a high prevalence of left ventricular hypertrophy. Conclusion: PRKAG2 mutations are responsible for a diverse phenotype and not only the familial form of the WPW syndrome. Familial occurrence of right bundle branch block, sinus bradycardia, and short PR interval should raise suspicion of a mutant PRKAG2 gene.
Url:
DOI: 10.1111/j.1540-8167.2006.00485.x
Affiliations:
- Belgique, Brésil, Canada, Espagne, États-Unis
- Catalogne, Québec, État de New York
- Barcelone, Montréal
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title><author><name sortKey="Sternick, Eduardo Back" sort="Sternick, Eduardo Back" uniqKey="Sternick E" first="Eduardo Back" last="Sternick">Eduardo Back Sternick</name></author><author><name sortKey="Oliva, Antonio" sort="Oliva, Antonio" uniqKey="Oliva A" first="Antonio" last="Oliva">Antonio Oliva</name></author><author><name sortKey="Magalhaes, Luiz P" sort="Magalhaes, Luiz P" uniqKey="Magalhaes L" first="Luiz P." last="Magalhães">Luiz P. Magalhães</name></author><author><name sortKey="Gerken, Luiz M" sort="Gerken, Luiz M" uniqKey="Gerken L" first="Luiz M." last="Gerken">Luiz M. Gerken</name></author><author><name sortKey="Hong, Kui" sort="Hong, Kui" uniqKey="Hong K" first="Kui" last="Hong">Kui Hong</name></author><author><name sortKey="Santana, Oto" sort="Santana, Oto" uniqKey="Santana O" first="Oto" last="Santana">Oto Santana</name></author><author><name sortKey="Brugada, Pedro" sort="Brugada, Pedro" uniqKey="Brugada P" first="Pedro" last="Brugada">Pedro Brugada</name></author><author><name sortKey="Brugada, Josep" sort="Brugada, Josep" uniqKey="Brugada J" first="Josep" last="Brugada">Josep Brugada</name></author><author><name sortKey="Brugada, Ramon" sort="Brugada, Ramon" uniqKey="Brugada R" first="Ramon" last="Brugada">Ramon Brugada</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:479AE86AD969ECD16D61104C46025E59B4BF7DE7</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1111/j.1540-8167.2006.00485.x</idno><idno type="url">https://api.istex.fr/document/479AE86AD969ECD16D61104C46025E59B4BF7DE7/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000664</idno><idno type="wicri:Area/Main/Curation">000580</idno><idno type="wicri:Area/Main/Exploration">001300</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title><author><name sortKey="Sternick, Eduardo Back" sort="Sternick, Eduardo Back" uniqKey="Sternick E" first="Eduardo Back" last="Sternick">Eduardo Back Sternick</name><affiliation wicri:level="1"><country xml:lang="fr">Brésil</country><wicri:regionArea>Biocor Instituto, Nova Lima</wicri:regionArea><wicri:noRegion>Nova Lima</wicri:noRegion></affiliation></author><author><name sortKey="Oliva, Antonio" sort="Oliva, Antonio" uniqKey="Oliva A" first="Antonio" last="Oliva">Antonio Oliva</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Masonic Medical Research Laboratories, Utica, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Magalhaes, Luiz P" sort="Magalhaes, Luiz P" uniqKey="Magalhaes L" first="Luiz P." last="Magalhães">Luiz P. Magalhães</name><affiliation wicri:level="1"><country xml:lang="fr">Brésil</country><wicri:regionArea>University Hospital, Federal University of Bahia, Salvador</wicri:regionArea><wicri:noRegion>Salvador</wicri:noRegion></affiliation></author><author><name sortKey="Gerken, Luiz M" sort="Gerken, Luiz M" uniqKey="Gerken L" first="Luiz M." last="Gerken">Luiz M. Gerken</name><affiliation wicri:level="1"><country xml:lang="fr">Brésil</country><wicri:regionArea>Biocor Instituto, Nova Lima</wicri:regionArea><wicri:noRegion>Nova Lima</wicri:noRegion></affiliation></author><author><name sortKey="Hong, Kui" sort="Hong, Kui" uniqKey="Hong K" first="Kui" last="Hong">Kui Hong</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Masonic Medical Research Laboratories, Utica, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Santana, Oto" sort="Santana, Oto" uniqKey="Santana O" first="Oto" last="Santana">Oto Santana</name><affiliation wicri:level="1"><country xml:lang="fr">Brésil</country><wicri:regionArea>University Hospital, Federal University of Bahia, Salvador</wicri:regionArea><wicri:noRegion>Salvador</wicri:noRegion></affiliation></author><author><name sortKey="Brugada, Pedro" sort="Brugada, Pedro" uniqKey="Brugada P" first="Pedro" last="Brugada">Pedro Brugada</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Cardiovascular Research and Teaching Institute of Aalst</wicri:regionArea></affiliation></author><author><name sortKey="Brugada, Josep" sort="Brugada, Josep" uniqKey="Brugada J" first="Josep" last="Brugada">Josep Brugada</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Clinic, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Brugada, Ramon" sort="Brugada, Ramon" uniqKey="Brugada R" first="Ramon" last="Brugada">Ramon Brugada</name><affiliation wicri:level="3"><country xml:lang="fr">Canada</country><wicri:regionArea>Research Center, Montreal Heart Institute, Montreal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Cardiovascular Electrophysiology</title><idno type="ISSN">1045-3873</idno><idno type="eISSN">1540-8167</idno><imprint><publisher>Blackwell Publishing Inc</publisher><pubPlace>Malden, USA</pubPlace><date type="published" when="2006-07">2006-07</date><biblScope unit="volume">17</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="724">724</biblScope><biblScope unit="page" to="732">732</biblScope></imprint><idno type="ISSN">1045-3873</idno></series><idno type="istex">479AE86AD969ECD16D61104C46025E59B4BF7DE7</idno><idno type="DOI">10.1111/j.1540-8167.2006.00485.x</idno><idno type="ArticleID">JCE485</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1045-3873</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>familial RBBB and short PR interval</term><term>familial atrial fibrillation</term><term>familial atrial flutter</term><term>familial atrioventricular block</term><term>missense mutation</term><term>prkag2</term><term>sick sinus syndrome</term><term>sinus bradycardia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Introduction: PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. Clinico‐pathologic and experimental data suggest the hypothesis of a glycogen storage disease. Objective: To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families. Methods and Results: We studied two large families and found a total of 20 affected individuals showing a combination of sinus bradycardia, short PR interval, RBBB, intra and infrahisian conduction disturbances often requiring a pacemaker, and atrial tachyarrhythmias. Three individuals died suddenly at a young age. No patient had the Wolff‐Parkinson‐White (WPW) syndrome, and only two patients (10%) had myocardial hypertrophy. We performed screening of the exons and exon‐intron boundaries of PRKAG2. Genetic analysis revealed a missense mutation (Arg302Gln) in the affected individuals from both families. This mutation had been described before and has been associated with the familial form of the WPW syndrome and with a high prevalence of left ventricular hypertrophy. Conclusion: PRKAG2 mutations are responsible for a diverse phenotype and not only the familial form of the WPW syndrome. Familial occurrence of right bundle branch block, sinus bradycardia, and short PR interval should raise suspicion of a mutant PRKAG2 gene.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>Brésil</li><li>Canada</li><li>Espagne</li><li>États-Unis</li></country><region><li>Catalogne</li><li>Québec</li><li>État de New York</li></region><settlement><li>Barcelone</li><li>Montréal</li></settlement></list><tree><country name="Brésil"><noRegion><name sortKey="Sternick, Eduardo Back" sort="Sternick, Eduardo Back" uniqKey="Sternick E" first="Eduardo Back" last="Sternick">Eduardo Back Sternick</name></noRegion><name sortKey="Gerken, Luiz M" sort="Gerken, Luiz M" uniqKey="Gerken L" first="Luiz M." last="Gerken">Luiz M. Gerken</name><name sortKey="Magalhaes, Luiz P" sort="Magalhaes, Luiz P" uniqKey="Magalhaes L" first="Luiz P." last="Magalhães">Luiz P. Magalhães</name><name sortKey="Santana, Oto" sort="Santana, Oto" uniqKey="Santana O" first="Oto" last="Santana">Oto Santana</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Oliva, Antonio" sort="Oliva, Antonio" uniqKey="Oliva A" first="Antonio" last="Oliva">Antonio Oliva</name></region><name sortKey="Hong, Kui" sort="Hong, Kui" uniqKey="Hong K" first="Kui" last="Hong">Kui Hong</name></country><country name="Belgique"><noRegion><name sortKey="Brugada, Pedro" sort="Brugada, Pedro" uniqKey="Brugada P" first="Pedro" last="Brugada">Pedro Brugada</name></noRegion></country><country name="Espagne"><region name="Catalogne"><name sortKey="Brugada, Josep" sort="Brugada, Josep" uniqKey="Brugada J" first="Josep" last="Brugada">Josep Brugada</name></region></country><country name="Canada"><region name="Québec"><name sortKey="Brugada, Ramon" sort="Brugada, Ramon" uniqKey="Brugada R" first="Ramon" last="Brugada">Ramon Brugada</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001300 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001300 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:479AE86AD969ECD16D61104C46025E59B4BF7DE7
|texte= Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
}}
| This area was generated with Dilib version V0.6.23. |  |