TY - JOUR
T1 - Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases
AU - Nannenberg, Eline A.
AU - van Rijsingen, Ingrid A. W.
AU - van der Zwaag, Paul A.
AU - van den Berg, Maarten P.
AU - van Tintelen, J. Peter
AU - Tanck, Michael W. T.
AU - Ackerman, Michael J.
AU - Wilde, Arthur A. M.
AU - Christiaans, Imke
PY - 2018
Y1 - 2018
N2 - BACKGROUND: Accurate estimates of survival are indispensable for cardiologists, clinical geneticists, and genetic counselors dealing with families with an inherited cardiac disease. However, a bias towards a more severe disease with a worse outcome in the first publications may not accurately represent the actual survival forecast. We, therefore, evaluated the effect of ascertainment bias on survival in 3 different inherited cardiac diseases (idiopathic ventricular fibrillation, SCN5A overlap syndrome, and arrhythmogenic cardiomyopathy) caused by a founder mutation.
AB - BACKGROUND: Accurate estimates of survival are indispensable for cardiologists, clinical geneticists, and genetic counselors dealing with families with an inherited cardiac disease. However, a bias towards a more severe disease with a worse outcome in the first publications may not accurately represent the actual survival forecast. We, therefore, evaluated the effect of ascertainment bias on survival in 3 different inherited cardiac diseases (idiopathic ventricular fibrillation, SCN5A overlap syndrome, and arrhythmogenic cardiomyopathy) caused by a founder mutation.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85055599623&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30354299
U2 - https://doi.org/10.1161/CIRCGEN.117.001797
DO - https://doi.org/10.1161/CIRCGEN.117.001797
M3 - Article
C2 - 30354299
SN - 2574-8300
VL - 11
SP - e001797
JO - Circulation. Genomic and precision medicine
JF - Circulation. Genomic and precision medicine
IS - 10
ER -