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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2009-5-26
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pubmed:abstractText |
Ventricular tachycardia and fibrillation (VT/VF) complicating Brugada syndrome, a genetic disorder linked to SCN5A mutations, and VF complicating acute myocardial infarction (AMI) have both been linked to phase 2 reentry. Because of these mechanistic similarities in arrhythmogenesis, we examined the contribution of SCN5A mutations to VT/VF complicating AMI. Nineteen consecutive patients developing VF during AMI were enrolled. Wild-type (WT) and mutant SCN5A genes were co-expressed with SCN1B in TSA201 cells and studied using whole-cell patch-clamp techniques. One missense mutation (G400A) in SCN5A was detected in a conserved region among the cohort of 19 patients. A H558R polymorphism was detected on the same allele. Unlike the other 18 patients who each developed 1-2 VF episodes during acute MI, the mutation carrier developed six episodes of VT/VF within the first 12 hours. All VT/VF episodes were associated with ST segment changes and were initiated by short-coupled extrasystoles. We describe the first sodium channel mutation to be associated with the development of an arrhythmic storm during acute ischemia. These findings suggest that a loss of function in SCN5A may predispose to ischemia induced arrhythmic storm. These results could be very useful for forensic implications regarding genetic screening in relatives.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1873-4162
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pubmed:author |
pubmed-author:AntzelevitchCharlieC,
pubmed-author:BRUYY,
pubmed-author:Barajas-MartinezHectorH,
pubmed-author:BrugadaRamonR,
pubmed-author:BurashnikovElenaE,
pubmed-author:CarrierTabithaT,
pubmed-author:CordeiroJonathan MJM,
pubmed-author:GuerchicoffAlexandraA,
pubmed-author:OlivaAntonioA,
pubmed-author:PascaliVincenzo LVL,
pubmed-author:PollevickGuidoG,
pubmed-author:RossoRafaelR,
pubmed-author:ViskinSamiS,
pubmed-author:WuYushengY
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pubmed:issnType |
Electronic
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pubmed:volume |
11 Suppl 1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
S206-9
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:19345130-Adult,
pubmed-meshheading:19345130-Aged,
pubmed-meshheading:19345130-Alleles,
pubmed-meshheading:19345130-Case-Control Studies,
pubmed-meshheading:19345130-Electrocardiography,
pubmed-meshheading:19345130-Female,
pubmed-meshheading:19345130-Genetic Predisposition to Disease,
pubmed-meshheading:19345130-Humans,
pubmed-meshheading:19345130-Male,
pubmed-meshheading:19345130-Middle Aged,
pubmed-meshheading:19345130-Muscle Proteins,
pubmed-meshheading:19345130-Mutation, Missense,
pubmed-meshheading:19345130-Myocardial Infarction,
pubmed-meshheading:19345130-Patch-Clamp Techniques,
pubmed-meshheading:19345130-Polymerase Chain Reaction,
pubmed-meshheading:19345130-Polymorphism, Genetic,
pubmed-meshheading:19345130-Sodium Channels,
pubmed-meshheading:19345130-Tachycardia, Ventricular,
pubmed-meshheading:19345130-Ventricular Fibrillation
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pubmed:year |
2009
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pubmed:articleTitle |
SCN5A mutation associated with acute myocardial infarction.
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pubmed:affiliation |
Institute of Forensic Medicine, Catholic University, School of Medicine, Largo Francesco Vito 1, Rome, Italy. antonio.oliva@rm.unicatt.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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