Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

@article{Bhuiyan2009Desmoglein2AD,
  title={Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.},
  author={Zahurul A Bhuiyan and Jan J D H Jongbloed and Jasper J. van der Smagt and Paola M Lombardi and Ans C. P. Wiesfeld and Marcel Nelen and Meyke Schouten and Roselie J. E. Jongbloed and Moniek G. P. J. Cox and Marleen van Wolferen and Luz Maria Rodriguez and Isabelle C. van Gelder and H. Bikker and Albert J. H. Suurmeijer and Maarten P. van den Berg and Marcel M. A. M. Mannens and Richard N. W. Hauer and Arthur Arnold Maria Wilde and J Peter van Tintelen},
  journal={Circulation. Cardiovascular genetics},
  year={2009},
  volume={2 5},
  pages={418-27}
}
BACKGROUND This study aimed to evaluate the prevalence and type of mutations in the major desmosomal genes, Plakophilin-2 (PKP2), Desmoglein-2 (DSG2), and Desmocollin-2 (DSC2), in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We also aimed to distinguish relevant clinical and ECG parameters. METHODS AND RESULTS Clinical evaluation was performed according to the Task Force Criteria (TFC). We analyzed the genes in (a) 57 patients who fulfilled the ARVD/C TFC (TFC… CONTINUE READING