A familial form of conduction defect related to a mutation in the PRKAG2 gene.
Identifieur interne : 000D66 ( PubMed/Corpus ); précédent : 000D65; suivant : 000D67A familial form of conduction defect related to a mutation in the PRKAG2 gene.
Auteurs : Philippe Charron ; 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
Links to Exploration step
pubmed:17483151Le document en format XML
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<affiliation><nlm: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</nlm:affiliation>
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<author><name sortKey="Genest, Marc" sort="Genest, Marc" uniqKey="Genest M" first="Marc" last="Genest">Marc Genest</name>
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<author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name>
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<author><name sortKey="Komajda, Michel" sort="Komajda, Michel" uniqKey="Komajda M" first="Michel" last="Komajda">Michel Komajda</name>
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<author><name sortKey="Pochmalicki, Gilbert" sort="Pochmalicki, Gilbert" uniqKey="Pochmalicki G" first="Gilbert" last="Pochmalicki">Gilbert Pochmalicki</name>
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<affiliation><nlm: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</nlm:affiliation>
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<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>
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<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>
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