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
Authors: Benjamin Feldmann; Zöe Powis; Christina L. Alamillo; Brigette Tippin Davis