Linked Life Data

12693506

Source:http://linkedlifedata.com/resource/pubmed/id/12693506

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-4-15
pubmed:abstractText
Mutations in the SCN5A gene can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation that has a characteristic ECG phenotype usually restricted to precordial leads V1-V3. We identified a novel G752R SCN5A missense mutation leading to various degrees of the Brugada ECG phenotype in members of a French family. In the proband, the G752R mutation produced ST segment elevation and prominent J wave in leads II, III, and aVF. In four other relatives, ST segment elevation in the right precordial but not in the inferior leads was observed either spontaneously or under flecainide challenge. Recombinant G752R mutant exhibited a markedly reduced Na+ current amplitude and a voltage shift in both activation and inactivation curves. The mutant was found in all affected but not in nonaffected family members. One additional gene-carrier had an almost normal ECG (silent gene-carrier). We provide genetic demonstration that Brugada ECG anomalies related to a unique SCN5A mutation can be observed either in the inferior or the right precordial leads.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1045-3873
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
200-3
pubmed:dateRevised
2011-7-22
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads.
pubmed:affiliation
Institut National de la Santé et de la Recherche Médicale (INSERM) U533, Faculté de Médecine, the Cardiology Department, Hôpital G&R Laennec, Nantes, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't