Arrhythmogenic right ventricular cardiomyopathy

Diagnosis and Testing

What's involved in genetic testing for arrhythmogenic right ventricular cardiomyopathy?

Genetic testing should be offered to anybody who has a personal or family history of arrhythmogenic right ventricular cardiomyopathy (ARVC). Most genetic testing is done as a blood test, but in some cases a cheek swab or saliva sample can also be used depending on the testing lab's requirements. There are several different ways to test for ARVC including testing for a known family gene change, testing a single gene associated with ARVC, or testing many genes that may case ARVC.

If there is a known gene change or mutation in a family, a person at risk to have ARVC can have testing for that specific mutation. This testing is typically quicker as the lab is only looking for once specific gene change.

If an individual with ARVC does not have a known family gene mutation, but the cardiologist or genetics team suspects it is caused by changes in a specific gene, they may order testing of a specific gene associated with ARVC. They can test this gene through sequencing ("spell checking" the gene looking for misspellings) and deletion/duplication testing (checking the specific gene for large missing or added DNA that wouldn't be detected by sequencing).

Another testing option is an arrhythmogenic right ventricular cardiomyopathy (ARVC) multigene panel that includes many genes associated with ARVC. On a panel test, the lab may do deletion/duplication analysis and/or sequencing looking for disease causing gene changes. A panel that includes the genes listed below is most likely to identify the genetic cause of ARVC while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the symptoms.

Genes that may be included on the genetic testing panel include:

  • DSC2
  • DSG2
  • DSP
  • JUP
  • PKP2
  • TMEM43
  • TGFB3
  • RYR2

A genetic counselor or medical geneticist can assist families and individuals better understand the genetic testing options ARVC and who else in family may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2019-11-15


Genetic Home Reference. Arrhythmogenic right ventricular cardiomyopathy. Accessed 29MAR2019.

McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy. 2005 Apr 18 [Updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: Accessed March 29, 2019.

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