Novel Rare Variants in Congenital Cardiac Arrhythmia Genes are Frequent in Drug-induced Torsades de Pointes

@inproceedings{Ramirez2013NovelRV,
  title={Novel Rare Variants in Congenital Cardiac Arrhythmia Genes are Frequent in Drug-induced Torsades de Pointes},
  author={Andrea H. Ramirez and Christian M. Shaffer and Jessica T. Delaney and David P. Sexton and Shawn E. Levy and Mark J. Rieder and Deborah A. Nickerson and Alfred L. George and Dan M. Roden},
  booktitle={The Pharmacogenomics Journal},
  year={2013}
}
Marked prolongation of the QT interval and polymorphic ventricular tachycardia following medication (drug-induced long QT syndrome, diLQTS) is a severe adverse drug reaction (ADR) that phenocopies congenital long QT syndrome (cLQTS) and is one of the leading causes for drug withdrawal and relabeling. We evaluated the frequency of rare non-synonymous variants in genes contributing to the maintenance of heart rhythm in cases of diLQTS using targeted capture coupled to next-generation sequencing… CONTINUE READING
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