ARVC

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition that affects your heart. Fat and/or fibrous (scar) tissue replaces damaged heart muscle in your right ventricle. That heart chamber stretches out, becomes thin and contracts poorly. As a result, your heart can’t pump blood as well. This makes it hard to breathe and may make you faint or feel your heart flutter.

The fat or fibrous tissues can get in the way of heartbeat signals and cause abnormal heart rhythms (arrhythmias). This can increase your risk of sudden cardiac arrest or death. You may need medications or a procedure to help you avoid these.

ARVC has other names, like arrhythmogenic right ventricular dysplasia (ARVD) or right ventricular dysplasia. Because it can affect your left ventricle as well, it’s often called arrhythmogenic cardiomyopathy (ACM).

ARVC occurs in about 1 in 2,000 to 1 in 5,000 people. It often runs in families, but can happen with no family history of it.

Symptoms of ARVC

You may not have arrhythmogenic right ventricular cardiomyopathy symptoms early on. Symptoms may start before age 40 or as early as your teens. But there’s still a risk of sudden cardiac death, and it can be the first sign of ARVC. This is because many people with ARVC have irregular heart rhythms that start in their ventricles (ventricular arrhythmias).

ARVC symptoms may include:

• Supraventricular arrhythmias, most often atrial fibrillation
• Heart palpitations, or fluttering in your chest
• Dizziness, lightheadedness or fainting
• Fatigue
• Chest pain
• Shortness of breath
• Swelling in your legs, ankles, feet or belly
• Heart failure

ARVC causes

A genetic variant often causes arrhythmogenic right ventricular cardiomyopathy. Experts have found at least 13 genes with variants 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 ARVC is present in up to 1 out of 2 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 ARVC. Relatives who are teens or older should see a provider even if they don’t have symptoms.

You can inherit arrhythmogenic right ventricular cardiomyopathy in these ways:

• Autosomal dominant: One parent has a genetic variant. Their children have a 50% chance of inheriting the condition. But the symptoms and age of onset can differ between family members.
• Autosomal recessive: With this less common pattern, both parents have the genetic variant, but no symptoms. One form, Naxos disease, may cause thick skin on the palms of your hands and soles of your feet, and thick, “wool-like” hair.

Risk factors

Healthcare providers usually see arrhythmogenic cardiomyopathy in teens or young adults. They typically diagnose ARVC in people between age 20 and 40.

This condition is the reason some young athletes have sudden cardiac arrest. ARVC happens more often in males.

How to lower your risk

Getting screened early for ARVC 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.

How doctors diagnose ARVC

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

They look for a mix of certain issues that make up the ARVC diagnostic criteria:

• Abnormal right ventricle function (echocardiogram, MRI)
• Fatty or fibrous-fatty tissue in your right ventricle heart muscle (MRI)
• Abnormal electrocardiogram (ECG/EKG)
• Certain arrhythmias, especially with exertion
• Family history of ARVC

Depending on how many of these you have, your provider may make a definite, borderline or possible diagnosis. Your provider may recommend genetic testing if your family is at risk.

Healthcare providers prefer a heart MRI for diagnosis. Other tests to diagnose arrhythmogenic right ventricular cardiomyopathy include:

• Electrocardiogram (ECG/EKG)
• Echocardiogram
• Heart monitor
• Cardiac computed tomography (CT)
• Stress test
• Electrophysiology testing
• Tissue sample (biopsy)

How is it treated?

Arrhythmogenic cardiomyopathy doesn’t have a cure. But your healthcare provider will work to manage your arrhythmias and heart failure. They’ll also help you prevent blood clots.

You may need more than one type of treatment for this condition during your lifetime. ARVC treatments include these medicines and procedures:

• Antiarrhythmic drugs: These prevent sustained ventricular arrhythmias and/or sudden death.
• Blood pressure medicines: These include diuretics or beta-blockers that ease your heart’s workload.
• Anticoagulants: Medicines like warfarin (Coumadin® or Jantoven®) can prevent blood clots.
• Catheter ablation: This procedure is for frequent arrhythmias that don’t get better with medication.
• Cardioversion: This procedure returns your heart to a normal rhythm.
• Implantable cardioverter-defibrillator (ICD): This device is for people at risk for sudden death.
• Heart transplant: A donated heart is an option if other treatments don’t work. People with this condition rarely need new hearts.

When should I see my healthcare provider?

If you have ARVC, you’ll need regular appointments for the rest of your life. Going to follow-up visits will help your healthcare provider catch any issues that develop with your condition. Your provider will want to make sure you’re getting the right treatment and the right doses of medicine. They’ll also need to check your ICD regularly if you have one.

Questions to ask your provider may include:

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

What can I expect if I have ARVC?

ARVC 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. It may progress faster with physical activity that involves high intensity or endurance.

Without treatment for arrhythmogenic cardiomyopathy, your right ventricle can fail. Then, your left ventricle can fail later. This can lead to heart failure and atrial fibrillation. Your outlook may be worse when this condition affects both ventricles.

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

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

But sudden death can happen to people who don’t know they have this condition or aren’t getting the treatment they need. ARVC is second on the list of most common causes of sudden cardiac death in people younger than 35.

Is there anything I can do to feel better?

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 nutritious foods
• Limiting how much caffeine you eat and drink
• Staying at a weight that’s normal for you
• Taking your medications as prescribed
• Limiting strenuous physical activity to 30 minutes a day

Because exertion makes ARVC worse, check with your healthcare provider before physical activity. You shouldn’t take part in competitive sports, except possibly low-intensity ones.