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

Date:
Thursday, Sep 14, 2017 5:45pm – 7:00pm
Conference:
NSGC 2017
Authors:
Benjamin Feldmann, Brigette Tippin Davis, Christina L. Alamillo, Zöe Powis
  • 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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