Frequently Asked Questions (FAQs) about ARVC/D

What causes ARVC/D?

ARVC/D is a genetic condition that causes abnormal heart rhythms.

A person with ARVC/D has a 50 percent chance of passing on a specific abnormal gene to his or her children. The relationship between having this gene and developing ARVC/D is not yet fully clear.

How does a genetic mutation cause ARVC/D?

ARVC/D is often caused by mutations in the proteins within the heart which link one heart cell to the next. Patients with ARVC/D often have differences in the genes that encode for these proteins.

When there is a mutation in these genes, the mechanical bonds that hold heart cells together are defective. Over time, the heart cells can pull apart, replacing healthy heart tissue with scar and fat tissue. This process can be accelerated with a high level of exercise, which explains why it appears to be more common among young athletes.

The causes of ARVC/D are still being studied. It is possible that there are other causes, such as viral infections. We expect that we will learn more about the specifics in the next five to ten years.

If I have an abnormal gene associated with ARVC/D, do I have the disease?

Someone who inherits the abnormal gene or mutation for ARVC/D has inherited a genetic predisposition to developing ARVC/D. Additional factors may act as triggers that cause an individual to develop signs and symptoms of ARVC/D. These factors may include:

  • other abnormal genes
  • athletic lifestyle
  • exposure to certain viruses

This is an area of active research and we are rapidly gaining information about all the factors that can cause the clinical disease.

What genes are associated with ARVC/D?

Changes in the following eight genes have been associated with ARVC/D.

Gene (Symbol)

Locus (location on a chromosome)

Prevalence

Plakophilin-2 (PKP2)

12q11

11% - 43%

Desmoglein-2 (DSG2)

18q12

12% - 40%

Desmoplakin (DSP)

6p24

6% - 16%

Desmocollin-2 (DSC2)

18q12

1% - 5%

Plakoglobin (JUP)

17q21

Rare

Cardiac Ryanodine Receptor (RYR2)

1q42

Rare

Transmembrane protein 43 (TMEM43)

3p25

Unknown

Ryanodine receptor 2 (RYR2)