Arrhythmogenic right ventricular cardiomyopathy is a life threatening genetic heart condition that causes problems with the muscle tissue around your heart’s right ventricle.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart condition involving the breakdown of muscle tissue surrounding a part of your heart called the right ventricle. This condition is also called arrhythmogenic right ventricular dysplasia.

ARVC is most often diagnosed in adults. It can cause an atypical heart rate or sudden cardiac death in otherwise healthy people.

Here, we examine ARVC in more detail, including potential symptoms, treatments, and causes.

How common is arrhythmogenic right ventricular cardiomyopathy?

ARVC is estimated to occur in 1 in 2,500–5,000 people. It accounts for 5–10% of unexplained deaths in people under the age of 65 years.

Was this helpful?

Symptoms of ARVC often don’t appear until adulthood. The first sign can be exercise-related sudden cardiac death.

Some people have symptoms of right sided heart failure, such as:

ARVC can also cause certain types of arrhythmia (atypical heart rate), including:

ARVC is caused by inherited gene mutations. These mutations cause loss of muscle tissue in the myocardium of your right ventricle. The lost myocardium is progressively replaced by fat and scar tissue.

Up to half of people with ARVC have a mutation in genes that encode for desmosome proteins. These proteins act as the glue to keep your heart’s muscle cells together.

Mutations in the following eight genes are thought to cause most cases of ARVC:

  • PKP2
  • DSP
  • DSG2
  • DSC2
  • JUP
  • TMEM43
  • DES
  • PLN

Up to 46% of cases are thought to result from mutations in PKP2.

ARVC is usually diagnosed in adulthood, with most cases diagnosed before 40 years of age. It’s uncommon for ARVC to be diagnosed before puberty. Up to 15% of people who receive an ARVC diagnosis are teenagers.

This condition occurs about 2.7 times more often in males than in females.

ARVC can cause sudden death in young adults or athletes due to arrhythmia or heart failure. An estimated 5–10% of sudden deaths in people under the age of 65 years are attributed to this condition.

Prolonged and intense exercise may speed up the progression of the disease and lead to more severe symptoms or sudden cardiac death.

Diagnosing ARVC can be challenging because no single test is enough to make the diagnosis. Tests you might receive include:

To receive a diagnosis of ARVC, you must meet one of the following combinations of criteria:

  • two of the major criteria
  • one major and two minor criteria
  • four minor criteria

Some of the major criteria are:

  • family history of ARVC confirmed surgically or with an autopsy
  • severe enlargement of the right ventricle
  • evidence of scar tissue and fat replacing muscular tissue on an endomyocardial biopsy
  • right ventricular aneurysm

Some of the minor criteria are:

  • family history of sudden cardiac before 35 years of age
  • family history of ARVC not confirmed with surgery or autopsy
  • characteristic tissue changes

It’s important to get screened if you have a family history of ARVC since the first symptom can be sudden cardiac death. It’s also essential to see a doctor if you notice any symptoms of arrhythmia, such as:

  • a rapid heart rate
  • a fluttering sensation in your chest
  • a feeling like your heart has skipped a beat
  • a slow or irregular heart rate

If you receive an ARVC diagnosis, it’s essential to go to all your follow-up appointments and follow your doctor’s advice on what level of physical activity is safe for you.

Additionally, it’s important to consult a doctor if you have symptoms of heart failure, which include the symptoms above as well as:

  • swelling in your legs
  • shortness of breath
  • fatigue
  • chest pain

The goal of ARVC treatment is to decrease the risk of sudden cardiac death. Treatment options include:

ARVC is often linked to genetic changes and isn’t preventable. However, you can reduce your chances of sudden cardiac death by seeking proper treatment and following your doctor’s exercise recommendations.

The outlook for ARVC used to be unfavorable, but it has improved in recent years as wider availability of cardiac MRI and CT scans has led to earlier diagnosis. The outlook is now favorable for people who undergo screening.

In a 2022 study involving 299 people with ARVC who received an ICD, researchers found that 41% of the participants received a potentially life-saving shock from their ICD over a median follow-up period of 10.6 years.

Here are some frequently asked questions people have about ARVC.

What triggers ARVC?

ARVC is caused by gene mutations inherited through families. The gene most commonly linked to ARVC is the PKP2 gene.

Is there a cure for ARVC?

ARVC doesn’t have a cure, but medications can help manage an atypical heart rhythm. In some cases, you might need to receive an ICD to minimize the risk of sudden death.

What is the mortality rate of ARVC?

In a 2022 review of studies, researchers concluded that the annual incident rate of sudden cardiac death in people with ARVC who had an ICD was as low as 0.56 per 1,000. Not having an ICD was associated with almost a 10 times higher risk of death.

ARVC is a genetic heart condition that causes problems with the muscle tissue around your heart’s right ventricle. It can lead to sudden cardiac death in young people who otherwise seem healthy.

The outlook for ARVC has improved in recent years due to better detection. Some people receive an ICD to help prevent sudden death, while others undergo surgery or take medications.