ARVC/ARVD

Arrhythmogenic Right Ventricular Dysplasia (ARVD), or Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a genetic disease of the heart muscle.

Although most of those with ARVC do not show any symptoms, the condition causes 15%-25% of heart-related deaths in people under 35. The exact prevalence of ARVC is unknown, but is estimated to be between 1 in 5000 to as high as 1 in 1000 people.

About

Arrhythmogenic means “causing the heart to beat irregularly,” and the word cardiomyopathy is translated as “heart-muscle disease.” ARVC is caused by a defect in the tiny proteins that hold the heart muscle cells together. These complex proteins, or “desmosomes,” can be disrupted in ARVC, leading to areas of scar and fat deposits. The right ventricle is more susceptible to this damage, though the left ventricle can also be involved. These areas of scarring can lead to abnormal heart rhythms which can cause you to become symptomatic or cause sudden cardiac arrest or death.

Symptoms

The most common age of presentation is in the 30’s, however ARVC may present as young as early teenage years to over 70. Therefore symptoms at any age should be evaluated. Symptoms include heart palpitations and fainting after physical activity or exercise.

You may experience any one or more of the following symptoms:

Palpitations

Syncope

Light-headedness

Chest pain

Cardiac arrest

One type of rapid heartbeat is called ventricular tachycardia. When ventricular tachycardia occurs, the heart is beating too fast to pump blood effectively out of the heart. As a result, the brain does not receive enough blood and you may lose consciousness within seconds. This sudden loss of consciousness is called syncope and it may look like a simple faint or like a seizure.

Diagnosis

ARVC is a difficult condition to diagnose, which may be frustrating for you, your family, and even your doctors. Your cardiologist will use a list of criteria – or scoring system – to make a clinical diagnosis of ARVC.

Your doctor will use a combination of tests to make a diagnosis of ARVC. The number and types of tests you’ll undergo depends on how definitive the results of earlier tests are. Many of these tests are not available at all hospitals, so you may have to travel to a larger medical facility to have them performed.

Tests used to evaluate for ARVC include electrocardiogram (ECG), heart rhythm monitoring, an echocardiogram, and a cardiac MRI.

Genetic testing is part of the diagnostic criteria and can help in making a diagnosis. ARVC is caused by a genetic variant, or change in the genetic instructions that is different from the reference code (also called a genetic mutation).

ARVC is inherited in an “autosomal dominant” pattern, meaning first degree relatives are at 50% risk to have the same pathogenic variant. Members of the same family can share the same variant, but the severity of ARVC may greatly vary, even among family members with the same variant. Some family members may have no symptoms at all, but that does not mean they are not at risk and they should be evaluated.

Treatment

There are many different treatments available, but the appropriate treatment path depends on your particular case.

Beta-Blockers

Medication cannot cure the underlying disease, but may relieve symptoms like palpitations and reduce the chance of dangerous arrhythmias. Standard treatment for ARVC is a class of medications called beta-blockers. Beta-blockers, with names like atenolol, metoprolol, and nadolol, are frequently recommended.

Anti-Arrhythmic Medications

If you continue to have symptoms of ARVC even while taking beta-blockers, your cardiologist may recommend that you take another type of medication as well. Antiarrhythmics are a type of medication that changes the electrical signals in the heart to reduce the likelihood of an arrhythmia. Examples may include sotalol and flecainide.

Radio Frequency Catheter Ablation

Catheter ablation may be recommended for you if you don’t respond well to antiarrhythmic medications, or you have ICD therapies despite treatment. The abnormal heart rhythms in ARVC occur when the heart muscle is slowly replaced by scar tissue and fat, which conducts electrical signals differently than normal heart muscle does. Destroying the tiny area of tissue that is responsible for conducting this dangerous electrical signal in the heart can prevent the heart from beating abnormally. Ablation is an effective method to improve quality of life in ARVC patients, but not a replacement for the ICD since abnormal rhythms can come back. It is best done in a high expertise center for ARVC.

In addition to your medication, surgery, and/or ICD, there are some lifestyle changes you can make to reduce your chance of having an episode of arrhythmia.

Implantable Cardioverter Defibrillators (ICDs)

In some people with ARVC, the heart may suddenly start beating too rapidly to properly pump blood to the body. When this fast rhythm is present, a strong electric shock to the heart is the only way to “reset” it so it can start beating in a normal rhythm again. The process of shocking the heart back into a normal rhythm is called defibrillation. If the defibrillator detects a heart rate above a programmed threshold, it delivers a shock to the heart to fix the abnormal rhythm.

Your doctor may recommend an ICD if you still have an irregular heartbeat despite medical therapy, or other high risk features.

Participation in Sports

Studies have shown a direct correlation between vigorous sports and activity and progression in ARVC including increased amounts of dangerous arrhythmias and increased heart failure. Therefore, strenuous and competitive sports, or endurance or vigorous exercise are not recommended for those with ARVC. Ask your cardiologist which level of activity is appropriate for the severity of your particular condition. Sometimes lower energy sports such as walking, golf, bowling, yoga, and other strength training are good ways for people with ARVC to stay in shape and have fun without increasing their risk.

 

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