caa a22 4500 605544654 CHVBK 20210128100932.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s10897-014-9776-6 doi (NATIONALLICENCE)springer-10.1007/s10897-014-9776-6 Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome [Elektronische Daten] [Mikael Hanninen, George Klein, Zachary Laksman, Susan Conacher, Allan Skanes, Raymond Yee, Lorne Gula, Peter Leong-Sit, Jaimie Manlucu, Andrew Krahn] The acceptance and yield of family screening in genotype-negative long QT syndrome (LQTS) remains incompletely characterized. In this study of family screening for phenotype-definite Long QT Syndrome (LQTS, Schwartz score ≥3.5), probands at a regional Inherited Cardiac Arrhythmia clinic were reviewed. All LQTS patients were offered education by a qualified genetic counselor, along with materials for family screening including electronic and paper correspondence to provide to family members. Thirty-eight qualifying probands were identified and 20 of these had family members who participated in cascade screening. The acceptance of screening was found to be lower among families without a known pathogenic mutation (33 vs. 77%, p = 0.02). A total of 52 relatives were screened; fewer relatives were screened per index case when the proband was genotype-negative (1.7 vs. 3.1, p = 0.02). The clinical yield of screening appeared to be similar irrespective of gene testing results (38 vs. 33%, p = 0.69). Additional efforts to promote family screening among gene-negative long QT families may be warranted. National Society of Genetic Counselors, Inc., 2014 Long QT syndrome nationallicence Gene negative nationallicence Family screening nationallicence Cascade screening nationallicence Hanninen Mikael Division of Cardiology, Grey Nuns Hospital, Edmonton, AB, Canada aut Klein George Division of Cardiology, Western University, London, ON, Canada aut Laksman Zachary Division of Cardiology, Western University, London, ON, Canada aut Conacher Susan Division of Cardiology, Western University, London, ON, Canada aut Skanes Allan Division of Cardiology, Western University, London, ON, Canada aut Yee Raymond Division of Cardiology, Western University, London, ON, Canada aut Gula Lorne Division of Cardiology, Western University, London, ON, Canada aut Leong-Sit Peter Division of Cardiology, Western University, London, ON, Canada aut Manlucu Jaimie Division of Cardiology, Western University, London, ON, Canada aut Krahn Andrew Division of Cardiology, University of British Columbia, Vancouver, BC, Canada aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 558-564 1059-7700 24:4<558 2015 24 10897 https://doi.org/10.1007/s10897-014-9776-6 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-014-9776-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hanninen Mikael Division of Cardiology, Grey Nuns Hospital, Edmonton, AB, Canada aut NATIONALLICENCE 700 1- Klein George Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Laksman Zachary Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Conacher Susan Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Skanes Allan Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Yee Raymond Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Gula Lorne Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Leong-Sit Peter Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Manlucu Jaimie Division of Cardiology, Western University, London, ON, Canada aut NATIONALLICENCE 700 1- Krahn Andrew Division of Cardiology, University of British Columbia, Vancouver, BC, Canada aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 558-564 1059-7700 24:4<558 2015 24 10897