Exome & General Genetics

Session # B-110

Preventing Sudden Cardiac Death(?): Exome Secondary Findings in Cardiovascular Genes

  • The overall detection rate of cardiac secondary findings in Ambry’s DES population (1.6%) is small but not insignificant, given the severity of outcomes associated with certain mutations in these genes.
  • Cardiac DES secondary findings were evenly spread amongst genes related to inherited arrhythmias, cardiomyopathies, and familial hypercholesterolemia, all of which can lead to sudden cardiac death when left untreated.
  • Further research is needed to determine long-term manifestations of disease and outcomes for patients in which secondary findings were reported

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