Search Terms

Updated in 2014:
We searched the literature in Entrez PubMed using ARVD/C and its underlying genes (DSC2, DSG2, DSP, JUP, PKP2, DES, CTTNA3, PLN, LMNA, TGFB3, TMEM43, TTN) as search terms. For a complete list of search terms used, see below.

The database will be updated with data from new articles from Entrez PudMed search results using these search terms, which are automatically updated and emailed to the curators. Updates to the database will be reported on the homepage and are stored in the news archive.

An overview of screened candidate genes in which no mutations were identified is listed at the bottom of this page.


Used search terms:

  • Arrhythmogenic Right Ventricular Dysplasia OR ARVD
  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy OR ARVD/C
  • Arrhythmogenic Right Ventricular Cardiomyopathy OR ARVC
  • Arrhythmogenic Ventricular Cardiomyopathy
  • Arrhythmogenic Cardiomyopathy OR ACM

  • DSC2 OR Desmocollin 2
  • DSG2 OR Desmoglein 2
  • DSP OR Desmoplakin
  • JUPOr Plakoglobin
  • PKP2Or Plakophillin 2
  • DES OR Desmin
  • CTNNA3 OR Catenin, alpha 3
  • PLN OR Phospholamban
  • LMNA OR Lamin A/C
  • TGFB3 OR Transforming growth factor, beta 3
  • TMEM43 OR Transmembrane potein 43
  • TTN OR Titin

  • Carvajal disease OR Carvajal syndrome
  • Naxos disease OR Naxos syndrome

Screened candidate genes in patients with ARVD/C in which no mutations could be identified:


Gene Publication Cohort size Notes
CAV1 Gandjbakhch et al. 2013 64 All negative for desmosomal mutations
CTNNA3 Christensen et al. 2011 65 Mutations in CTNNA3 have been identified in 2013 by Van Hengel et al.
Gandjbakhch et al. 2013 64 Mutations in CTNNA3 have been identified in 2013 by Van Hengel et al.
CTNNB1 Christensen et al. 2011 65 55 TFC+ and 10 borderline cases
PERP Christensen et al. 2011 65 55 TFC+ and 10 borderline cases
Gandjbakhch et al. 2013 64 A single proband carried a missense variant in PERP and PKP4
PKP4 Gandjbakhch et al. 2013 64 A single proband carried a missense variant in PERP and PKP4
PNN Gandjbakhch et al. 2013 64 All negative for desmosomal mutations