Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias

J Electrocardiol. 2007 Nov-Dec;40(6 Suppl):S26-9. doi: 10.1016/j.jelectrocard.2007.05.019.

Abstract

Recent reports have highlighted the importance of a family history of sudden death as a risk for ventricular fibrillation (VF) in patients experiencing acute myocardial infarction (AMI), pointing to the possibility of a genetic predisposition. This report briefly reviews 2 recent studies designed to examine the hypothesis that there is a genetic predisposition to the development of arrhythmias associated with AMI. Ventricular tachycardia and VF (VT/VF) complicating AMI as well as arrhythmias associated with Brugada syndrome, a genetic disorder linked to SCN5A mutations, 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 in patients developing VF during AMI. A missense mutation in SCN5A was found in a patient who developed an arrhythmic electrical storm during an evolving myocardial infarction. All VT/VF episodes were associated with ST-segment changes and were initiated by short-coupled extrasystoles. G400A mutation and H558R polymorphism were on the same allele, and functional expression in TSA201 demonstrated loss of function of sodium channel activity. These results suggest that a subclinical mutation in SCN5A resulting in a loss of function may predispose to life-threatening arrhythmias during acute ischemia. In another cohort of patients who developed long-QT intervals and torsade de pointes arrhythmias in days 2 to 11 after an AMI, a genetic screening of all long-QT genes was performed. Of 8 patients in this group, 6 (75%) displayed the same polymorphism in KCNH2, which encodes the alpha-subunit of the rapidly activating delayed rectifier potassium current, I(Kr). The K897T polymorphism was detected in only 3 of 14 patients with uncomplicated myocardial infarction and has been detected in 33% of the white population. Expression of this polymorphism has previously been shown to cause a loss of function in HERG current consistent with the long-QT phenotype. These observations suggest a genetic predisposition to the development of long-QT intervals and torsade de pointes in the days after an AMI. These preliminary studies provide support for the hypothesis that there is a genetic predisposition to the type and severity of arrhythmias that develop during and after an AMI, and that additional studies are warranted.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac / diagnosis*
  • Arrhythmias, Cardiac / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Mutation
  • Myocardial Ischemia / diagnosis*
  • Myocardial Ischemia / genetics*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Polymorphism, Single Nucleotide / genetics*
  • Sodium Channels / genetics*

Substances

  • Genetic Markers
  • Muscle Proteins
  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels