Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease of the heart muscle where the normal heart muscle cells on the right side of the heart are replaced by fat and scar tissue. Occasionally, ARVC can also affect the left side of the heart. These changes in the heart muscle can cause two main problems. First, it can cause changes in the electrical system of the heart leading to heart rhythm abnormalities. Second, the right side of the heart can become enlarged and not pump as it should, which can lead to heart failure. These changes in the heart can lead to a range of symptoms; some patients may have no symptoms while others may develop palpitations, chest pain, dizziness and fainting episodes. In the most serious instances, it can lead to heart failure or sudden cardiac death.

How it is inherited

Arrhythmogenic right ventricular cardiomyopathy is most commonly inherited as an autosomal dominant disease (see Genetic Inheritance and Testing for more information).

Genetic testing

Major advances have been made in genetic testing for ARVC in recent years. Genetic testing is now commercially available and involves testing five genes commonly associated with ARVC. In approximately 30-50% of families a gene alteration will be identified. Further research is needed to identify more genes involved in this disease.

If you would like to find out more about how genetic testing may be useful in your family, please contact a clinic coordinator at your nearest Cardiac Genetic Service .

Common Treatments

Your cardiologist will decide what medications or treatments you may require.

Many patients will not need any medications, particularly if they have no symptoms. Some common medications are:

Beta-blockers are very commonly used in the general population to treat high blood pressure. They are used in ARVC patients to slow the heart rate and reduce the effect of sudden exertion or excitement on the heart. As beta-blockers make the heart beat slower, it allows blood to completely fill the chambers before it is pumped out, leading to improved heart function. Examples include Metoprolol, Atenolol, Nadolol.
Sotolol (antiarrhythmic drug) is a type of beta-blocker but has additional effects of suppressing abnormal heart rhythms, particularly atrial fibrillation.

Implantable defibrillator: your risk of sudden death will also be assessed by your cardiologist. If your cardiologist believes you may be at increased risk of dying suddenly, they will often advise an automatic implantable cardioverter-defibrillator (AICD). This is a small device (similar to a pacemaker) that is inserted in to the chest, with leads extending down in to the heart. The AICD monitors the hearts rhythm and if it becomes abnormal (the type of heart rate that occurs during a cardiac arrest), it will deliver an electric shock to revert the heart back to a normal rhythm. These devices have revolutionised the management of patients with ARVC as it is the only therapy proven to stop people dying suddenly. As your cardiologist determines your level of risk based on certain criteria, you should report any new symptoms or events to your cardiologist immediately, including black-outs or if a family member passes away unexpectedly.

Exercise & Competitive Sports

One of the most difficult aspects of ARVC is the advice to avoid high level, competitive sports. Competitive sports include those that require significant exertion, for example: touch football, basketball, netball, squash, running and even social games that you may not think are too strenuous. It is recommended that people with ARVC avoid competitive sports because it has been linked with a higher risk of sudden cardiac death.

While high-level exercise should be avoided, it is still important to maintain a healthy lifestyle. Regular light exercise such as walking is not only good for your heart, but also good for your general health.

Advice to Family Members

Direct family members of someone who has been diagnosed with ARVC should have their hearts checked by a cardiologist , which is known as Clinical Screening. Direct family members include children, brothers and sisters, and parents. As ARVC is an inherited heart condition, these family members are generally at a 1 in 2 (50%) risk of also carrying the gene and are termed at-risk relatives.

We rely on this information being passed on within a family. Therefore we ask you to encourage any at-risk relatives to arrange an appointment with a cardiologist. We know there is a huge variation in the range of symptoms seen even within a family. For example, some family members may have little or no symptoms while others are affected by the most serious outcomes of heart failure and sudden death. So even though an at-risk relative may feel healthy and well, it is possible they could have mild disease. If this is the case, they may not necessarily need to start any treatments but they would then know that their children are at-risk and could arrange appropriate medical screening for them.  Please talk to the coordinator of a Cardiac Genetic Service near you for more information or to organise a ‘heart check’.

Australian Genetic Heart Disease Registry

ARVC is one of the diseases being investigated by the Registry. We aim to enrol every family in Australia with ARVC. Find out more about the Registry or enrol yourself or your family by emailing the Registry Coordinator .

PDF of ARVC Information Sheet