A familial form of conduction defect related to a mutation in the PRKAG2 gene.
Identifieur interne : 000D26 ( PubMed/Curation ); précédent : 000D25; suivant : 000D27A familial form of conduction defect related to a mutation in the PRKAG2 gene.
Auteurs : Philippe Charron [France] ; Marc Genest ; Pascale Richard ; Michel Komajda ; Gilbert PochmalickiSource :
- Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [ 1099-5129 ] ; 2007.
English descriptors
- KwdEn :
- AMP-Activated Protein Kinases, Adult, Aged, Arrhythmias, Cardiac (classification), Arrhythmias, Cardiac (congenital), Arrhythmias, Cardiac (diagnosis), Arrhythmias, Cardiac (genetics), Female, Genetic Predisposition to Disease (genetics), Heterozygote, Humans, Middle Aged, Multienzyme Complexes (genetics), Mutation, Pedigree, Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics).
- MESH :
- chemical , genetics : Multienzyme Complexes, Protein-Serine-Threonine Kinases.
- chemical : AMP-Activated Protein Kinases.
- classification : Arrhythmias, Cardiac.
- congenital : Arrhythmias, Cardiac.
- diagnosis : Arrhythmias, Cardiac.
- genetics : Arrhythmias, Cardiac, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide.
- Adult, Aged, Female, Heterozygote, Humans, Middle Aged, Mutation, Pedigree.
Abstract
We describe four members of the same family with a very similar ECG pattern characterized by conduction defects (right bundle branch block, frequent left anterior hemiblock, atrial hypertrophy, and sometimes severe nodal dysfunction) contrasting with a short PR interval. Significant clinical events were reported only after 60 years of age. A mutation in the gamma2 subunit of the AMP activated protein kinase gene (PRKAG2) was identified in the four members of the family, with an autosomal dominant inheritance. The phenotype observed in this family appears different from that previously described as associated with this gene as neither left ventricular hypertrophy nor Wolff-Parkinson-White syndrome was present. These findings extend the phenotype associated with the PRKAG2 gene and emphasize an additional cause of familial conduction defect.
DOI: 10.1093/europace/eum071
PubMed: 17483151
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Richard</name></author><author><name sortKey="Komajda, Michel" sort="Komajda, Michel" uniqKey="Komajda M" first="Michel" last="Komajda">Michel Komajda</name></author><author><name sortKey="Pochmalicki, Gilbert" sort="Pochmalicki, Gilbert" uniqKey="Pochmalicki G" first="Gilbert" last="Pochmalicki">Gilbert Pochmalicki</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17483151</idno><idno type="pmid">17483151</idno><idno type="doi">10.1093/europace/eum071</idno><idno type="wicri:Area/PubMed/Corpus">000D66</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000D66</idno><idno type="wicri:Area/PubMed/Curation">000D26</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000D26</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A familial form of conduction defect related to a mutation in the PRKAG2 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(genetics)</term><term>Heterozygote</term><term>Humans</term><term>Middle Aged</term><term>Multienzyme Complexes (genetics)</term><term>Mutation</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Multienzyme Complexes</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>AMP-Activated Protein Kinases</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Arrhythmias, Cardiac</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Arrhythmias, Cardiac</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Arrhythmias, Cardiac</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arrhythmias, Cardiac</term><term>Genetic Predisposition to Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe four members of the same family with a very similar ECG pattern characterized by conduction defects (right bundle branch block, frequent left anterior hemiblock, atrial hypertrophy, and sometimes severe nodal dysfunction) contrasting with a short PR interval. Significant clinical events were reported only after 60 years of age. A mutation in the gamma2 subunit of the AMP activated protein kinase gene (PRKAG2) was identified in the four members of the family, with an autosomal dominant inheritance. The phenotype observed in this family appears different from that previously described as associated with this gene as neither left ventricular hypertrophy nor Wolff-Parkinson-White syndrome was present. These findings extend the phenotype associated with the PRKAG2 gene and emphasize an additional cause of familial conduction defect.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17483151</PMID><DateCreated><Year>2007</Year><Month>08</Month><Day>13</Day></DateCreated><DateCompleted><Year>2007</Year><Month>12</Month><Day>13</Day></DateCompleted><DateRevised><Year>2008</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1099-5129</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>8</Issue><PubDate><Year>2007</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology</Title><ISOAbbreviation>Europace</ISOAbbreviation></Journal><ArticleTitle>A familial form of conduction defect related to a mutation in the PRKAG2 gene.</ArticleTitle><Pagination><MedlinePgn>597-600</MedlinePgn></Pagination><Abstract><AbstractText>We describe four members of the same family with a very similar ECG pattern characterized by conduction defects (right bundle branch block, frequent left anterior hemiblock, atrial hypertrophy, and sometimes severe nodal dysfunction) contrasting with a short PR interval. Significant clinical events were reported only after 60 years of age. A mutation in the gamma2 subunit of the AMP activated protein kinase gene (PRKAG2) was identified in the four members of the family, with an autosomal dominant inheritance. The phenotype observed in this family appears different from that previously described as associated with this gene as neither left ventricular hypertrophy nor Wolff-Parkinson-White syndrome was present. These findings extend the phenotype associated with the PRKAG2 gene and emphasize an additional cause of familial conduction defect.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Charron</LastName><ForeName>Philippe</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Université Pierre et Marie Curie-Paris 6, Inserm UMR621, AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris, France. philippe.charron@psl.aphp.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Genest</LastName><ForeName>Marc</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Richard</LastName><ForeName>Pascale</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Komajda</LastName><ForeName>Michel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Pochmalicki</LastName><ForeName>Gilbert</ForeName><Initials>G</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2007</Year><Month>05</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Europace</MedlineTA><NlmUniqueID>100883649</NlmUniqueID><ISSNLinking>1099-5129</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009097">Multienzyme Complexes</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D055372">AMP-Activated Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D055372" MajorTopicYN="N">AMP-Activated Protein Kinases</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001145" MajorTopicYN="N">Arrhythmias, Cardiac</DescriptorName><QualifierName UI="Q000145" MajorTopicYN="Y">classification</QualifierName><QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009097" MajorTopicYN="N">Multienzyme Complexes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>5</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>12</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>5</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17483151</ArticleId><ArticleId IdType="pii">eum071</ArticleId><ArticleId IdType="doi">10.1093/europace/eum071</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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