Open AccessReappraisal of Reported Genes for Sudden Arrhythmic Death
Author(s) -
S. Mohsen Hosseini,
Raymond H. Kim,
Sharmila Udupa,
Gregory Costain,
Rebekah Jobling,
Eriskay Liston,
Seema M. Jamal,
Marta Szybowska,
Chantal F. Morel,
Sarah Bowdin,
John Garcia,
Melanie Care,
Amy C. Sturm,
Valeria Novelli,
Michael J. Ackerman,
James S. Ware,
Ray E. Hershberger,
Arthur A.M. Wilde,
Michael H. Gollob
Publication year - 2018
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.118.035070
Subject(s) - medicine , disease , brugada syndrome , genetic testing , causality (physics) , gene , genetics , bioinformatics , pathology , biology , physics , quantum mechanics
Implicit in the genetic evaluation of patients with suspected genetic diseases is the assumption that the genes evaluated are causative for the disease based on robust scientific and statistical evidence. However, in the past 20 years, considerable variability has existed in the study design and quality of evidence supporting reported gene-disease associations, raising concerns of the validity of many published disease-causing genes. Brugada syndrome (BrS) is an arrhythmia syndrome with a risk of sudden death. More than 20 genes have been reported to cause BrS and are assessed routinely on genetic testing panels in the absence of a systematic, evidence-based evaluation of the evidence supporting the causality of these genes.