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 disease-causing variant in a family, a person at risk to have ARVC can have testing specific for that gene variant. 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 variant, but the cardiologist or genetics team suspects ARVC 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).

A multigene panel looks for more than one gene associated with ARVC. On a panel test, the lab may do deletion/duplication analysis and/or sequencing looking for disease-causing gene variants. A gene panel (listed below) is highly likely to identify the genetic cause of ARVC and at the same time minimizing the impact of variants of uncertain significance (VUS) and disease-causing 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.

References
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More Diagnosis and Testing Content

Is there a test for babies with arrhythmogenic right ventricular cardiomyopathy?

What are the tests for arrhythmogenic right ventricular cardiomyopathy?

Should other family members be tested for arrhythmogenic right ventricular cardiomyopathy?

How does arrhythmogenic right ventricular cardiomyopathy get diagnosed?

Does it matter if you test blood or saliva for arrhythmogenic right ventricular cardiomyopathy genetic testing?

Is there a database of gene changes that cause Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)?

Is there a test for babies with arrhythmogenic right ventricular cardiomyopathy?

In the United States, newborn screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) is not offered routinely. However, if there is a family history of ARVC with a known genetic change or mutation testing can be done in childhood or adulthood. Before testing a child for ARVC it is important to understand the future implications if they test positive for the genetic mutation.

To discuss the genetic testing options for newborns as well as the issues surrounding genetic testing in children, it is excellent idea to contact a genetic counselor to set up an appointment. A cardiac focused genetic counselor in your area or one available via telemedicine can be located using this link.

References
  • 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: https://www.ncbi.nlm.nih.gov/books/NBK1131/ Accessed March 29, 2019.
  • Heart and Vascular Institute, ARVD/C Questions and Answers. this link.

References
Should other family members be tested for arrhythmogenic right ventricular cardiomyopathy?

When someone has been diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC), additional family members are also at risk to inherit the disorder. A genetic counselor can help family members understand their individual risk to have ARVC by working with the family to draw the family history and point out those at risk.

Genetic testing is recommended for family members of individuals with a known gene change or variant linked to ARVC. Family members who have the family-specific gene mutation should have annual clinical screening of cardiac function and rhythm between ages ten and fifty years.

If genetic testing has not been conducted in the index case, or family member with ARVC, or testing did not identify a disease-causing variant in the affected family member, clinical screening for cardiac involvement is recommended for those without symptoms (asymptomatic) at-risk first-degree relatives. The recommended schedule is every 3-5 years after ten years of age.

If someone is concerned that they have ARVC or someone has been diagnosed in a family, it is important to discuss next steps for diagnosis with a cardiologist, medical geneticist, and/or genetic counselor familiar with ARVC. They can discuss testing options and possible causes of the condition. A cardiac focused genetic counselor in your area can be located using this link.

References
References
Does it matter if you test blood or saliva for arrhythmogenic right ventricular cardiomyopathy genetic testing?

Genetic testing for arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically performed on a blood sample, cheek swab, or saliva sample. The type of sample needed depends on the testing lab's requirements and the exact test ordered for ARVC. To learn more about genetic testing, contact a genetic counselor familiar with ARVC. They can discuss testing options and the type of sample required for analysis. A cardiac focused genetic counselor in your area can be located using this link.

References
  • 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: https://www.ncbi.nlm.nih.gov/books/NBK1131/ Accessed March 29, 2019.
  • Tichnell C, James CA, Murray B, Tandri H, Sears SF, Calkins H. Cardiology patient page. Patient's guide to arrhythmogenic right ventricular dysplasia/cardiomyopathy: past to present. Circulation. 2014 Sep 2;130(10):e89-92. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.113.004845 Accessed 11NOV19
  • Heart and Vascular Institute, ARVD/C Questions and Answers. https://molgenis136.gcc.rug.nl/

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