Founder Mutation Genotyping and Sudden Cardiac Arrest

After the Human Genome Project, a resulting explosion of genetic information has led to the identification of thousands of new disease-susceptibility genes. This has created the dream of genetic medicine, or so-called precision medicine, where the identification of pathogenic mutations would lead to the early diagnosis, treatment, and prevention of disease. This ideal has no more important implications than with respect to sudden cardiac arrest (SCA) and subsequent sudden cardiac death (SCD). SCD stemming from ventricular arrhythmias accounts for ≈300 000 deaths annually within the United States alone and is a leading cause of death worldwide. Although the vast majority of these SCDs involve the elderly, thousands of SCDs involve young people and result in a significant number of lost-life-years in general and lost-tax paying-life years in particular. Furthermore, the unexpected nature of these youthful SCDs has a devastating impact on surviving family members and communities as a whole, leaving many wondering “why did this happen?” and “could it happen to other family members?”. Therefore, the ability to identify pathogenic mutations as SCA-predisposing biomarkers holds great promise to save lives and provide answers for these families.