Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
Identifieur interne : 000664 ( Main/Corpus ); précédent : 000663; suivant : 000665Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
Auteurs : Eduardo Back Sternick ; Antonio Oliva ; Luiz P. Magalhães ; Luiz M. Gerken ; Kui Hong ; Oto Santana ; Pedro Brugada ; Josep Brugada ; Ramon BrugadaSource :
- 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.
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DOI: 10.1111/j.1540-8167.2006.00485.x
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ISTEX:479AE86AD969ECD16D61104C46025E59B4BF7DE7Le document en format XML
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Magalhães</name><affiliation><mods:affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Gerken, Luiz M" sort="Gerken, Luiz M" uniqKey="Gerken L" first="Luiz M." last="Gerken">Luiz M. 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Magalhães</name><affiliation><mods:affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</mods:affiliation></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><mods:affiliation>Biocor Instituto, Nova Lima, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Hong, Kui" sort="Hong, Kui" uniqKey="Hong K" first="Kui" last="Hong">Kui Hong</name><affiliation><mods:affiliation>Masonic Medical Research Laboratories, Utica, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Santana, Oto" sort="Santana, Oto" uniqKey="Santana O" first="Oto" last="Santana">Oto Santana</name><affiliation><mods:affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Brugada, Pedro" sort="Brugada, Pedro" uniqKey="Brugada P" first="Pedro" last="Brugada">Pedro Brugada</name><affiliation><mods:affiliation>Cardiovascular Research and Teaching Institute of Aalst, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Brugada, Josep" sort="Brugada, Josep" uniqKey="Brugada J" first="Josep" last="Brugada">Josep Brugada</name><affiliation><mods:affiliation>Hospital Clinic, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Brugada, Ramon" sort="Brugada, Ramon" uniqKey="Brugada R" first="Ramon" last="Brugada">Ramon Brugada</name><affiliation><mods:affiliation>Research Center, Montreal Heart Institute, Montreal, Canada</mods:affiliation></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><istex><corpusName>wiley</corpusName><author><json:item><name>EDUARDO BACK STERNICK M.D., Ph.D.</name><affiliations><json:string>Biocor Instituto, Nova Lima, Brazil</json:string></affiliations></json:item><json:item><name>ANTONIO OLIVA M.D.</name><affiliations><json:string>Masonic Medical Research Laboratories, Utica, New York, USA</json:string></affiliations></json:item><json:item><name>LUIZ P. MAGALHÃES M.D.</name><affiliations><json:string>University Hospital, Federal University of Bahia, Salvador, Brazil</json:string></affiliations></json:item><json:item><name>LUIZ M. GERKEN M.D.</name><affiliations><json:string>Biocor Instituto, Nova Lima, Brazil</json:string></affiliations></json:item><json:item><name>KUI HONG M.D., Ph.D.</name><affiliations><json:string>Masonic Medical Research Laboratories, Utica, New York, USA</json:string></affiliations></json:item><json:item><name>OTO SANTANA M.D., Ph.D.</name><affiliations><json:string>University Hospital, Federal University of Bahia, Salvador, Brazil</json:string></affiliations></json:item><json:item><name>PEDRO BRUGADA M.D., Ph.D.</name><affiliations><json:string>Cardiovascular Research and Teaching Institute of Aalst, Belgium</json:string></affiliations></json:item><json:item><name>JOSEP BRUGADA M.D, Ph.D.</name><affiliations><json:string>Hospital Clinic, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>RAMON BRUGADA M.D.</name><affiliations><json:string>Research Center, Montreal Heart Institute, Montreal, Canada</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>prkag2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>missense mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial RBBB and short PR interval</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial atrioventricular block</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial atrial flutter</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial atrial fibrillation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sinus bradycardia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sick sinus syndrome</value></json:item></subject><articleId><json:string>JCE485</json:string></articleId><language><json:string>eng</json:string></language><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.</abstract><qualityIndicators><score>6.869</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594.006 x 783.008 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>8</keywordCount><abstractCharCount>1490</abstractCharCount><pdfWordCount>4337</pdfWordCount><pdfCharCount>27425</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>211</abstractWordCount></qualityIndicators><title>Familial Pseudo‐Wolff‐Parkinson‐White 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Syndrome</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Inc</publisher><pubPlace>Malden, USA</pubPlace><availability><p>WILEY</p></availability><date>2006</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title><author><persName><forename type="first">EDUARDO BACK</forename><surname>STERNICK</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><affiliation>Biocor Instituto, Nova Lima, Brazil</affiliation></author><author><persName><forename type="first">ANTONIO</forename><surname>OLIVA</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Masonic Medical Research Laboratories, Utica, New York, USA</affiliation></author><author><persName><forename type="first">LUIZ P.</forename><surname>MAGALHÃES</surname></persName><roleName type="degree">M.D.</roleName><affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</affiliation></author><author><persName><forename type="first">LUIZ M.</forename><surname>GERKEN</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Biocor Instituto, Nova Lima, Brazil</affiliation></author><author><persName><forename type="first">KUI</forename><surname>HONG</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><affiliation>Masonic Medical Research Laboratories, Utica, New York, USA</affiliation></author><author><persName><forename type="first">OTO</forename><surname>SANTANA</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</affiliation></author><author><persName><forename type="first">PEDRO</forename><surname>BRUGADA</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><affiliation>Cardiovascular Research and Teaching Institute of Aalst, Belgium</affiliation></author><author><persName><forename type="first">JOSEP</forename><surname>BRUGADA</surname></persName><roleName type="degree">M.D, Ph.D.</roleName><affiliation>Hospital Clinic, Barcelona, Spain</affiliation></author><author><persName><forename type="first">RAMON</forename><surname>BRUGADA</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Research Center, Montreal Heart Institute, Montreal, Canada</affiliation></author></analytic><monogr><title level="j">Journal of Cardiovascular Electrophysiology</title><idno type="pISSN">1045-3873</idno><idno type="eISSN">1540-8167</idno><idno type="DOI">10.1111/(ISSN)1540-8167</idno><imprint><publisher>Blackwell Publishing Inc</publisher><pubPlace>Malden, USA</pubPlace><date type="published" when="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></monogr><idno 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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.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>prkag2</term></item><item><term>missense mutation</term></item><item><term>familial RBBB and short PR interval</term></item><item><term>familial atrioventricular block</term></item><item><term>familial atrial flutter</term></item><item><term>familial atrial fibrillation</term></item><item><term>sinus bradycardia</term></item><item><term>sick sinus syndrome</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-07">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/479AE86AD969ECD16D61104C46025E59B4BF7DE7/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Inc</publisherName><publisherLoc>Malden, USA</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1540-8167</doi><issn type="print">1045-3873</issn><issn type="electronic">1540-8167</issn><idGroup><id type="product" value="JCE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY">Journal of Cardiovascular Electrophysiology</title></titleGroup></publicationMeta><publicationMeta level="part" position="07007"><doi origin="wiley">10.1111/jce.2006.17.issue-7</doi><numberingGroup><numbering type="journalVolume" number="17">17</numbering><numbering type="journalIssue" number="7">7</numbering></numberingGroup><coverDate startDate="2006-07">July 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="7" status="forIssue"><doi origin="wiley">10.1111/j.1540-8167.2006.00485.x</doi><idGroup><id type="unit" value="JCE485"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="tocHeading1">ORIGINAL ARTICLES</title><title type="tocHeading2"><i>Clinical</i></title></titleGroup><eventGroup><event type="firstOnline" date="2006-03-31"></event><event type="publishedOnlineFinalForm" date="2006-03-31"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-29"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-23"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="724">724</numbering><numbering type="pageLast" number="732">732</numbering></numberingGroup><correspondenceTo>Address for correspondence: Eduardo Sternick, M.D., Ph.D., Rua Correias 281/301, ZIP: 30315‐340, Belo Horizonte, Minas Gerais, Brazil. Fax: 553132895273; E‐mail: <email>eduardosternick@aol.com</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:JCE.JCE485.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="6"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="22"></count><count type="linksCrossRef" number="45"></count></countGroup><titleGroup><title type="main">Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>EDUARDO BACK</givenNames><familyName>STERNICK</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2"><personName><givenNames>ANTONIO</givenNames><familyName>OLIVA</familyName><degrees>M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a3"><personName><givenNames>LUIZ P.</givenNames><familyName>MAGALHÃES</familyName><degrees>M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>LUIZ M.</givenNames><familyName>GERKEN</familyName><degrees>M.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a2"><personName><givenNames>KUI</givenNames><familyName>HONG</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a3"><personName><givenNames>OTO</givenNames><familyName>SANTANA</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a4"><personName><givenNames>PEDRO</givenNames><familyName>BRUGADA</familyName><degrees>M.D., Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a5"><personName><givenNames>JOSEP</givenNames><familyName>BRUGADA</familyName><degrees>M.D, Ph.D.</degrees></personName></creator><creator creatorRole="author" xml:id="cr9" affiliationRef="#a6"><personName><givenNames>RAMON</givenNames><familyName>BRUGADA</familyName><degrees>M.D.</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="BR"><unparsedAffiliation>Biocor Instituto, Nova Lima, Brazil</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="US"><unparsedAffiliation>Masonic Medical Research Laboratories, Utica, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="BR"><unparsedAffiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="BE"><unparsedAffiliation>Cardiovascular Research and Teaching Institute of Aalst, Belgium</unparsedAffiliation></affiliation><affiliation xml:id="a5" countryCode="ES"><unparsedAffiliation>Hospital Clinic, Barcelona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="CA"><unparsedAffiliation>Research Center, Montreal Heart Institute, Montreal, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1"><i>prkag2</i></keyword><keyword xml:id="k2"><i>missense mutation</i></keyword><keyword xml:id="k3"><i>familial RBBB and short PR interval</i></keyword><keyword xml:id="k4"><i>familial atrioventricular block</i></keyword><keyword xml:id="k5"><i>familial atrial flutter</i></keyword><keyword xml:id="k6"><i>familial atrial fibrillation</i></keyword><keyword xml:id="k7"><i>sinus bradycardia</i></keyword><keyword xml:id="k8"><i>sick sinus syndrome</i></keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><!-- Familial pseudo-WPW syndrome. 
<p> <i>Introduction:</i> 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.</p><p> <i>Objective:</i> To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families.</p><p> <i>Methods and Results:</i> 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.</p><p> <i>Conclusion:</i> 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.</p><!-- (J Cardiovasc Electrophysiol, Vol. 17, pp. 724-732, July 2006)
</abstractGroup></contentMeta><noteGroup><note xml:id="n-fnt-1" numbered="no"><p>Manuscript received 12 December 2005; Revised manuscript received 10 January 2006; Accepted for publication 17 January 2006.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Familial Pseudo‐Wolff‐Parkinson‐White Syndrome</title></titleInfo><name type="personal"><namePart type="given">EDUARDO BACK</namePart><namePart type="family">STERNICK</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Biocor Instituto, Nova Lima, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">ANTONIO</namePart><namePart type="family">OLIVA</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Masonic Medical Research Laboratories, Utica, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">LUIZ P.</namePart><namePart type="family">MAGALHÃES</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">LUIZ M.</namePart><namePart type="family">GERKEN</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Biocor Instituto, Nova Lima, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">KUI</namePart><namePart type="family">HONG</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Masonic Medical Research Laboratories, Utica, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">OTO</namePart><namePart type="family">SANTANA</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>University Hospital, Federal University of Bahia, Salvador, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">PEDRO</namePart><namePart type="family">BRUGADA</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Cardiovascular Research and Teaching Institute of Aalst, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">JOSEP</namePart><namePart type="family">BRUGADA</namePart><namePart type="termsOfAddress">M.D, Ph.D.</namePart><affiliation>Hospital Clinic, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">RAMON</namePart><namePart type="family">BRUGADA</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Research Center, Montreal Heart Institute, Montreal, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Inc</publisher><place><placeTerm type="text">Malden, USA</placeTerm></place><dateIssued encoding="w3cdtf">2006-07</dateIssued><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">6</extent><extent unit="tables">1</extent><extent unit="references">22</extent></physicalDescription><abstract 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.</abstract><subject lang="en"><genre>Keywords</genre><topic>prkag2</topic><topic>missense mutation</topic><topic>familial RBBB and short PR interval</topic><topic>familial atrioventricular block</topic><topic>familial atrial flutter</topic><topic>familial atrial fibrillation</topic><topic>sinus bradycardia</topic><topic>sick sinus syndrome</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Cardiovascular Electrophysiology</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">1045-3873</identifier><identifier type="eISSN">1540-8167</identifier><identifier type="DOI">10.1111/(ISSN)1540-8167</identifier><identifier type="PublisherID">JCE</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>17</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>724</start><end>732</end><total>9</total></extent></part></relatedItem><identifier type="istex">479AE86AD969ECD16D61104C46025E59B4BF7DE7</identifier><identifier type="DOI">10.1111/j.1540-8167.2006.00485.x</identifier><identifier type="ArticleID">JCE485</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Inc</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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