IDENTIFYING NEW SUDDEN DEATH GENES

Trans Am Clin Climatol Assoc. 2018:129:183-184.

Abstract

Inherited conditions that lead to cardiac arrhythmias and sudden cardiac death remain an important cause of morbidity and mortality. Identifying the genes responsible for these rare conditions can provide insights into the more common and heritable forms of sudden cardiac death seen in patients with structural heart disease. We and others have used candidate gene approaches and positional cloning in large families to show that mutations in ion channels and ion channel related proteins cause familial arrhythmia syndromes including long QT and Brugada syndromes. The genes responsible for many familial arrhythmia syndromes and the vast majority of the predisposition to common arrhythmias remain unknown. Using whole exome sequencing in families with Brugada syndrome and idiopathic ventricular fibrillation, we now seek to identify mutations in genes previously not thought to play a significant role in the heart.

MeSH terms

  • Brugada Syndrome / complications
  • Brugada Syndrome / genetics*
  • Brugada Syndrome / mortality
  • Brugada Syndrome / physiopathology
  • DNA Mutational Analysis / methods*
  • Death, Sudden, Cardiac / etiology*
  • Exome Sequencing / methods*
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Heart Rate / genetics*
  • Heredity
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Prognosis
  • Risk Factors
  • Ventricular Fibrillation / complications
  • Ventricular Fibrillation / genetics*
  • Ventricular Fibrillation / mortality
  • Ventricular Fibrillation / physiopathology

Substances

  • Genetic Markers

Supplementary concepts

  • Paroxysmal ventricular fibrillation