What is arrhythmogenic right ventricular cardiomyopathy?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease of the heart muscle. In this disease, fatty fibrous tissue replaces normal heart muscle. This interrupts normal electrical signals in the heart and may cause irregular and potentially life-threatening heart rhythms. The heart also becomes weaker over time leading to heart failure. It was previously called arrhythmogenic right ventricular dysplasia.

ARVC typically begins in a small part of the right ventricle. Over time, the disease slowly affects more of the right ventricle. Sometimes the left ventricle is affected, too. This can lead to abnormal heart rhythms, and sometimes sudden death. Over time, the heart can’t pump as much blood forward as it normally would. Blood backs up in the circulatory system causing fluid to build up in the soft tissues or the lungs. This can lead to many symptoms, such as swelling (edema) and shortness of breath. This is called heart failure.

ARVC is a fairly rare genetic disease. Symptoms usually show up between ages 10 and 50. The severity of the disease varies a great deal among people.

What causes ARVC?

ARVC results from a genetic defect. Genes are part of your DNA, the material passed down from parents to children. With this genetic defect, proteins that normally hold the muscle cells together don't develop correctly. This allows the muscle cells to detach and die. When this happens, normal heart tissue is replaced with fatty or fibrous tissue.

Most cases of ARVC are from an autosomal dominant inheritance. This means you need an abnormal gene from only one of your parents to have it. Still, even if you have an abnormal gene, you might not develop any major symptoms from ARVC. Researchers are still trying to understand what factors may increase disease severity.

Who is at risk for ARVC?

Having a relative with ARVC puts you at risk for the disease. A parent with an abnormal gene has a 50% chance of giving that gene to their child. If someone in your family has ARVC, you may be able to use genetic testing to see whether you're at risk. Anyone with an abnormal gene should be checked regularly by a healthcare provider.

What are the symptoms of ARVC?

Symptoms of ARVC tend to get worse over time as the disease affects more of the heart. Some people with ARVC show no symptoms. Others may have more severe symptoms. These may include:

• Fainting

• Heart palpitations with unpleasant awareness of the heartbeat

• Dizziness

• Shortness of breath with exertion or when lying down

• Chest pain

• Fatigue

• Swelling in the legs and other areas

• Persistent cough

• Sudden death due to an abnormal heart rhythm

Heart palpitations and fainting are common early symptoms. Unfortunately, sudden death is also sometimes the first symptom of ARVC. The other symptoms tend to come on more gradually.

How is ARVC diagnosed?

ARVC can be hard to diagnose. Family history and a clinical exam may give some clues. A cardiologist usually needs multiple tests to confirm a diagnosis. These may include:

• Electrocardiogram (ECG) to analyze the heart rhythm

• Continuous portable ECG monitoring to check heart rhythms away from the provider’s office

• Signal-averaged ECG to assess the potential for irregular heart rhythms

• Exercise ECG testing to evaluate the heart rhythm during physical exertion

• Echocardiogram to examine blood flow in the heart and heart motion

• Cardiac MRI to further examine heart anatomy and wall motion and see if there's fibrous tissue

• Angiography with catheterization to see heart vessels and chambers

• Heart biopsy so that tissue can be looked at in a lab for more details

• Electrophysiology studies to further analyze the heart rhythm, if necessary

Genetic testing can sometimes confirm the diagnosis.

How is ARVC treated?

A variety of medicines may be used to help treat ARVC. Some of them may be needed only when the disease is more severe. They include:

• Medicines to control your heartbeat and rhythms, such as beta-blockers

• Medicines to help prevent abnormal heart rhythms (antiarrhythmics)

• Water pills (diuretics) to reduce swelling (edema)

• Medicines to reduce the workload of the heart, like ACE inhibitors

• Blood thinners (anticoagulants) to prevent blood clots

Catheter ablation is another choice for certain people with ARVC. This is a procedure used to treat certain types of abnormal heart rhythms. Ablation involves threading a catheter through a vein in the groin up to the heart. There, the healthcare provider uses heat to destroy the cells that are starting abnormal heartbeats.

Many people with ARVC need an implantable cardioverter defibrillator (ICD). An ICD is a small electronic device placed under the skin and attached to the heart using a wire. Some ICDs use a wire under the skin over the breastbone. These devices use electrical shocks to treat life-threatening arrhythmias. This can help prevent sudden death. Your healthcare provider will review your symptoms and test results to determine whether you need an ICD.

You may need a heart transplant if the damage to your heart has become severe. However, this is rare.

Coping with ARVC

Your healthcare provider may give you additional instructions about how to manage your ARVC. You may need to:

• Limit heavy or competitive physical activity.

• Get treated for other heart conditions. This might include taking medicine to lower cholesterol.

• Make other lifestyle changes, such as losing weight, quitting smoking, or restricting salt or otherwise improving your diet.

• Reduce the amount of alcohol or caffeine you drink. (These can increase the risk of abnormal heart rhythms.)

• Keep track of your symptoms carefully. If you're gaining weight quickly, it might be a sign that you're retaining fluid due to poor heart function.

When should I call my healthcare provider?

See a healthcare provider right away if you have severe symptoms like chest pain, passing out, or severe shortness of breath. If your symptoms are gradually increasing, plan to see your provider soon.

Key points about ARVC

• ARVC is a genetic disease affecting the heart muscle, mainly in the right ventricle. It can cause abnormal heart rhythms, some of which can cause sudden death. It can also make the heart unable to pump enough blood.

• You should follow your healthcare provider's instructions carefully. Take all your medicines as prescribed. Follow any exercise precautions given to you.

• If you have ARVC, or if you have a close relative with ARVC, you should see your provider to be checked regularly. This is important even if you don’t have any symptoms.

• Extensive treatment may not be needed for ARVC, especially if it's in the early stages. Some people will need medicines or procedures.

• You need to tell your provider if you have symptoms or if your symptoms increase.

• Other family members may need to be tested for ARVC.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your healthcare provider if you have questions, especially after office hours or on weekends.