Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.

@article{MedeirosDomingo2017ArrhythmogenicRV,
  title={Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis.},
  author={Argelia Medeiros-Domingo and Ardan Muammer Saguner and Istv{\'a}n Magyar and Angela Bahr and Deniz G Akdis and Corinna B. Brunckhorst and Firat Duru and Wolfgang J Berger},
  journal={Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology},
  year={2017},
  volume={19 6},
  pages={
          1063-1069
        }
}
Aims To evaluate potential differences in the genetic profile of cases with 'definite', 'borderline', and 'possible' arrhythmogenic right ventricular cardiomyopathy (ARVC) phenotype by 2010 task force criteria using a custom genetic panel after whole-exome analysis. Methods and results We performed whole-exome sequencing in 14 cases with the clinical diagnosis ARVC using an 'Illumina HighSeq 2000' system. We presented our initial results focused on 96 known cardiomyopathy and channelopathy… CONTINUE READING
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