SCN5A Mutation associated with acute myocardial infarction

Antonio Oliva*, Dan Hu, Sami Viskin, Tabitha Carrier, Jonathan M. Cordeiro, Hector Barajas-Martinez, Yusheng Wu, Elena Burashnikov, Ramon Brugada, Rafael Rosso, Alexandra Guerchicoff, Guido Pollevick, Vincenzo L. Pascali, Charlie Antzelevitch

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageEnglish
Pages (from-to)S206-S209
JournalLegal Medicine
Issue numberSUPPL. 1
StatePublished - Apr 2009
Externally publishedYes


FundersFunder number
Fondi di Ateneo Linea D1
National Heart, Lung, and Blood InstituteR55HL047678
National Heart, Lung, and Blood Institute
American Health Assistance Foundation
American Heart Association
National Heart Foundation of Australia
Università Cattolica del Sacro CuoreHL66169
Università Cattolica del Sacro Cuore


    • Arrhythmia
    • Fibrillation
    • Ischemia
    • Sudden cardiac death
    • Ventricular tachycardia


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