Linked Life Data

18033003

Source:http://linkedlifedata.com/resource/pubmed/id/18033003

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2007-11-22
pubmed:abstractText
Conduction defects are usually secondary to elective aging of the conduction pathways. However, some familial and genetic forms are now being described. Here we report a particular electrocardiographic pattern in four members of the same family over three generations, naturally leading to the suspicion of a hereditary origin. The ECG appearance is very specific and includes conduction defects (RBBB and occasionally left anterior hemiblock), short PR interval, pseudo appearance of atrial hypertrophy, and occasionally sinus dysfunction or supraventricular extrasystole. Gene analysis identified a R302Q mutation of the gamma2 subunit producing AMP protein kinase, coded by the gene PRKAG2. This is a wrong sense mutation present in the heterozygous state in each of those displaying the ECG anomalies, and is transmitted in an autosomal dominant fashion. The clinical picture here appears to constitute a clinical entity distinct from those previously described as being associated with mutations of the PRKAG2 gene, without any left ventricular hypertrophy or Wolff-Parkinson-White syndrome.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0003-9683
pubmed:author
pubmed:issnType
Print
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
760-5
pubmed:dateRevised
2009-2-13
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
[A familial form of conduction defects associated with a PRKAG2 gene mutation].
pubmed:affiliation
Service de cardiologie, hôpital Léon-Binet, Provins. DrGP77@aol.com
pubmed:publicationType
Journal Article, English Abstract