Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results.

Han Chow ChuaHelge ServatiusBabken AsatryanAndré SchallerClaudine RieublandFabian NotiJens SeilerLaurent RotenSamuel H BaldingerHildegard TannerJuerg FuhrerAndreas HaeberlinAnna LamStephan A PlessArgelia Medeiros-Domingo

Published in: Clinical research in cardiology : official journal of the German Cardiac Society (2018)

Based on our data and previous reports, available evidence is insufficient to consider the variant KCNQ1:c.190_210del as pathogenic. Our findings call for cautious interpretation of genetic tests in UCA in the absence of a clinical phenotype.

Keyphrases

cardiac arrest
genome wide
cardiopulmonary resuscitation
copy number
electronic health record
big data
adverse drug
deep learning