Arrhythmogenic Right Ventricular Dysplasia

What is arrhythmogenic right ventricular dysplasia?

Arrhythmogenic right ventricular dysplasia is a rare form of cardiomyopathy. With this condition, fat and/or fibrous tissue replaces damaged heart muscle in your right ventricle. Your right ventricle stretches out, becomes thin and contracts poorly. As a result, your heart has a weakened ability to pump blood.

The fat or fibrous tissues that replace your heart muscle can get in the way of heartbeat signals. People with arrhythmogenic right ventricular dysplasia often have arrhythmias (abnormal heart rhythms), which can increase their risk of sudden cardiac arrest or death.

Arrhythmogenic right ventricular dysplasia is also called arrhythmogenic right ventricular cardiomyopathy (ARVC). Because it can affect your left ventricle as well, it’s often called arrhythmogenic cardiomyopathy (ACM).

Stages of arrhythmogenic right ventricular dysplasia

If you have ARVD, you can go through three stages over time:

1. Concealed stage: You have no symptoms, but you could have an abnormal heart rhythm while exercising. Test results can look like nothing’s wrong.
2. Electrical stage: You have a higher risk of ventricular arrhythmias and a higher risk of sudden cardiac death. An electrocardiogram can show heart rhythm issues.
3. Structural stage: You have an even higher risk of abnormal ventricular rhythms and sudden cardiac death. Imaging tests will show changes in your heart’s structure.

Who does arrhythmogenic right ventricular dysplasia affect?

Healthcare providers usually see arrhythmogenic right ventricular dysplasia in teens or young adults. This condition is the reason some young athletes have sudden cardiac arrest. Some studies say this condition happens more often in people assigned male at birth.

How common is arrhythmogenic right ventricular dysplasia?

Arrhythmogenic right ventricular dysplasia occurs in about 1 in 1,000 to 1 in 5,000 people. It can happen with no family history, although it often runs in families. An estimated 30,000 to 200,000 people in the United States have arrhythmogenic right ventricular dysplasia.

What are the symptoms of ARVC?

You may not have arrhythmogenic right ventricular dysplasia symptoms early on. But there’s still a risk of sudden cardiac death.

Symptoms may include:

• Ventricular arrhythmias: These irregular heart rhythms start in your ventricles or lower heart chambers. For nearly half of people with this type of abnormal rhythm, the result is fatal or almost fatal. The most common rhythm is ventricular tachycardia, which happens in 77% of people with this condition.
• Supraventricular arrhythmias, most often atrial fibrillation.
• Heart palpitations, or fluttering in your chest from abnormal heart rhythms.
• Dizziness, lightheadedness or fainting because of irregular heart rhythms.
• Chest pain.
• Sudden cardiac death: This can be the first sign of ARVD.
• Shortness of breath.
• Swelling in your legs, ankles, feet or abdomen.
• Heart failure.

Symptoms may start between your 20s and 50s.

Healthcare providers typically diagnose arrhythmogenic right ventricular dysplasia in people at a young age (usually before age 40). It may cause sudden cardiac death in athletes.

What causes arrhythmogenic right ventricular dysplasia?

About 60% of people with arrhythmogenic right ventricular dysplasia have a genetic mutation. Researchers have found at least 13 genes that can have mutations that cause this condition.

These abnormal genes harm proteins that help heart muscle cells connect to each other and communicate. Because of this, heart muscle cells in your right ventricle can separate and die. This can happen more often during times of stress or exertion.

A family history of arrhythmogenic right ventricular dysplasia is present in at least 30% to 50% of cases. Because of this, a healthcare provider should check all first- and second-degree family members (parents, siblings, children, grandchildren, uncles, aunts, nephews and nieces) of someone who has ARVD. Relatives who are teens or older should see a provider even if they don’t have symptoms.

Researchers have found two patterns of inheritance for arrhythmogenic right ventricular dysplasia:

• Autosomal dominant: One parent has a genetic mutation. Studies show that in these families, the family members have a 50% chance of inheriting the condition. However, the symptoms and age of onset may be different between family members. ARVD is more prevalent in some geographic areas, such as Italy.
• Autosomal recessive (not as common): Both parents have the genetic mutation, but have no symptoms. One form, Naxos disease, has an association with a thickening of the outer layer of skin on the palms of your hands and soles of your feet (hyperkeratosis) and thick, "wool-like" hair.

ARVD also may be related to other causes such as:

• Congenital (since birth) abnormalities that affect your right ventricle.
• Viral or inflammatory myocarditis.
• Unknown causes yet undiscovered.

How is arrhythmogenic right ventricular dysplasia diagnosed?

Your healthcare provider can diagnose arrhythmogenic right ventricular dysplasia based on your medical history, physical exam and tests.

They can make an arrhythmogenic right ventricular dysplasia diagnosis if you have a combination of certain issues, such as:

• A right ventricle that functions abnormally.
• Fatty or fibrous-fatty tissue in your right ventricle heart muscle (myocardium).
• Abnormal electrocardiogram (ECG/EKG).
• Arrhythmias (supraventricular tachycardia, ventricular tachycardia or ventricular fibrillation, especially with exercise).
• Family history of ARVD.

Depending on how many of these issues you have, your provider may make a definite, borderline or possible diagnosis. Your provider may recommend genetic testing in some, but not all, cases.

What tests will be done to diagnose arrhythmogenic right ventricular dysplasia?

Tests to diagnose arrhythmogenic right ventricular dysplasia include:

• Electrocardiogram (ECG/EKG).
• Transthoracic echocardiogram.
• Holter monitor.
• Angiogram of the right ventricle (rarely used).
• Electrophysiology testing.
• Cardiac magnetic resonance imaging (MRI).
• Cardiac computed tomography (CT).
• Biopsy (tissue sample). This is rarely used.

How is arrhythmogenic right ventricular dysplasia treated?

There isn’t a cure for arrhythmogenic right ventricular dysplasia, but your healthcare provider will work to:

• Control your ventricular arrhythmias.
• Prevent blood clots.
• Manage your heart failure.

Arrhythmogenic right ventricular dysplasia treatments include:

• Antiarrhythmic drugs to prevent sustained ventricular arrhythmias and/or sudden death. This is the treatment providers use most often. Your provider may prescribe sotalol (Sorine® or Betapace®) or amiodarone (Pacerone® or Cordarone®).
• Blood pressure medicines like diuretics or beta-blockers that ease your heart’s workload.
• Anticoagulant, warfarin (Coumadin® or Jantoven®), to prevent blood clots.
• Radiofrequency catheter ablation for frequent ventricular arrhythmias that don’t get better with medication.
• An implantable cardioverter-defibrillator (ICD) for people at risk for sudden death.
• Heart transplant if other treatments don’t work. Only 2% to 4% of people with this condition need a new heart.

You may need more than one type of treatment for this condition during your lifetime.

Complications/side effects of the treatment

While you’re taking warfarin, you’ll need to get regular blood tests. Your healthcare provider will want to make sure you’re getting the right amount of warfarin. Based on your test results, your provider may change your dose.

Catheter ablation is successful at first in the majority of people. However, abnormal heart rhythms come back in 60% of people because their disease has gotten worse.

ICD wires can move out of place or stop working right.

How do I take care of myself?

Keep communicating with your healthcare provider during your treatment. They can tell you if you’re taking the right dose of medicine. Also, going to follow-up appointments will help them catch any issues that develop with your condition.

How can I reduce my risk?

Getting screened early for arrhythmogenic right ventricular dysplasia is the best way to reduce your risk if a relative has the condition. Noninvasive tests can tell you if you’re at risk of abnormal heart rhythms. If you’re at risk, your healthcare provider can work with you to make a treatment plan.

What can I expect if I have arrhythmogenic right ventricular dysplasia?

Arrhythmogenic right ventricular dysplasia life expectancy varies, depending on when you get a diagnosis. It’s best to get a diagnosis at an early age and get the treatment that prevents irregular heart rhythms. The condition gets worse with time.

Without treatment for arrhythmogenic right ventricular dysplasia, your right ventricle can fail. Then your left ventricle can fail later. This can lead to heart failure and atrial fibrillation. Researchers believe your outlook is worse when ARVD affects both ventricles.

With treatment, you can get the help you need to lessen the burden on your heart and prevent dangerous heart rhythms.

Can you live a long life with ARVC?

Yes. A study reported that some people were older than 65 at diagnosis. Researchers estimate one-fifth of people with ARVC get symptoms after age 50.

Outlook for arrhythmogenic right ventricular dysplasia

Today, the long-term outlook for people with ARVD is good. This is because of advanced imaging like CT and MRI that allow for an earlier diagnosis and treatment.

However, sudden death can happen to people who haven’t been diagnosed or aren’t getting the treatment they need. ARVD causes 11% of sudden cardiac deaths — and 22% of sudden cardiac deaths in athletes — aged 35 and younger.

How do I take care of myself?

To make things easier on your heart, you can make some changes in how you live. Things you can do include:

• Limiting how much alcohol you drink.
• Avoiding tobacco products.
• Eating healthy foods.
• Limiting how much caffeine you eat and drink.
• Staying at a normal weight.
• Limiting strenuous physical activity.

Because exertion makes arrhythmogenic right ventricular dysplasia worse, check with your healthcare provider before exercising. You shouldn’t take part in competitive sports, except possibly low-intensity ones.

When should I see my healthcare provider?

If you have arrhythmogenic right ventricular dysplasia, you’ll need regular appointments for the rest of your life. Your healthcare provider will want to make sure you’re getting the right treatment. Also, your provider will need to check your ICD regularly if you have one.

When should I go to the ER?

If you see someone collapse and they don’t respond when you ask if they’re OK, call 911. Then start CPR, even if it’s just the hands-only type.

It’s a good idea to ask people who live with you to take a CPR class if you’re at risk of cardiac arrest.

What questions should I ask my doctor?

• Can I exercise or take part in sports? If so, which sports?
• What’s the best treatment for me?
• Do I need an ICD at this time?

A note from Cleveland Clinic

Because it can be tricky to get an arrhythmogenic right ventricular dysplasia diagnosis before you have symptoms, it’s important to know your family history. If your family is at risk because of a relative’s medical history with this condition, your healthcare provider can do screenings.

You’ll have the best prognosis when you get treatment early before arrhythmogenic right ventricular dysplasia progresses. It may give you peace of mind if the people who live with you get CPR training. That way, they’ll know what to do if you need help.