Arrhythmogenic Right Ventricular Cardiomyopathy (ARVD)

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic cardiomyopathy, is a genetic condition affecting your heart muscle. It affects about 1 in 2,000 to 1 in 5,000 people, most of whom are between 20 and 40 years old.

With ARVC, scar and fatty tissue replace portions of the heart muscle. This may lead to abnormal heart rhythms (medically known as arrhythmias), heart failure, and sudden cardiac death, especially if left untreated.

Symptoms of ARVC include heart palpitations, lightheadedness, fainting, and shortness of breath. Generally, symptoms in the early stages tend to be mild, whereas symptoms in the later stages can cause serious complications.

If you have ARVC, a cardiologist (a doctor who specializes in heart health) can offer treatments such as lifestyle changes, medications, and procedures to improve symptoms and your overall well-being.

Arrhythmias (abnormal heartbeats) are responsible for most symptoms of ARVC. Early on, there may not be any symptoms at all. Later on, people with ARVC may develop heart failure, especially if symptoms are left untreated.

Arrhythmia

Arrhythmias cause the heart to beat rapidly and/or irregularly. In severe cases, when the heart beats too quickly, it may not be able to supply enough blood to your body. ARVC increases the risk of ventricular tachycardia and ventricular fibrillation (VFib), which are life-threatening arrhythmias that can cause sudden cardiac death.

Abnormal heart rhythms often happen during exercise in people with ARVC. If you live with ARVC, symptoms of arrhythmias can include:

• Heart palpitations
• Lightheadedness or dizziness
• Fainting or loss of consciousness due to lack of blood flow to the brain

Heart Failure

Some people with ARVC develop heart failure because their heart muscle weakens. This usually happens after years of having the condition and not receiving adequate treatment. During heart failure, your heart doesn’t supply the body with the blood it needs to function properly. This can affect several organs, such as the kidneys, which hold on to more salt and fluid during heart failure. As a result, you may develop the following symptoms:

• Shortness of breath, particularly with exercise or lying flat
• Swelling in the feet, ankles, and legs
• Weight gain due to excess fluid
• Fatigue
• Cough with white mucus

ARVC most often affects the right ventricle, the bottom right chamber of your heart. However, microscopic examination of heart tissue usually reveals that there are some abnormalities in the left ventricle as well.

With ARVC, parts of your heart tissue become scarred and replaced with fatty tissue. This leads to abnormalities in the electrical signals that are responsible for your heartbeat, which can cause arrhythmias. When your heart is not beating properly, it can also cause disruptions in your ability to pump blood to other organs, increasing your risk of heart failure.

Scientists discovered that many people with ARVC have a genetic mutation in special proteins called desmosomes, which connect heart cells together and allow the cells to communicate and pass along signals. ARVC is genetic, and most people who develop ARVC also have a parent or other family member who has the same condition.

To diagnose ARVC, your healthcare provider will first ask about your personal and medical family history. They’ll also learn more about your symptoms and lifestyle habits to assess whether your symptoms may be caused by other heart conditions. If they suspect you have ARVC, your provider can also order several tests to make an accurate diagnosis. These include:

• Electrocardiogram (ECG): Assesses the heart’s electrical system to look for abnormal waves or patterns
• Echocardiogram (echo): Uses a heart ultrasound to look at the heart walls, valves, and pumping strength
• Cardiac MRI: Detects the presence of fatty tissue in the heart muscle
• Heart biopsy: Takes a sample of your heart tissue and examines it under a microscope to look for signs of scarring and fatty tissue in the heart muscle
• Rhythm monitoring: Utilizes technology (such as a Holter monitor) to monitor the heart’s rhythm over a period of time
• Genetic testing: Checks for genetic markers that can determine whether you have any mutations that may cause ARVC

If you’ve been diagnosed with ARVC, a cardiologist will discuss treatment options with you and develop an individualized treatment plan to improve your symptoms and overall quality of life. The goal of treatment is to prevent and treat arrhythmias that can lead to sudden cardiac death. Your cardiologist may advise the following treatments:

• Exercise restriction: Avoiding vigorous exercise, as this may trigger serious arrhythmias
• Antiarrhythmic medications: Taking beta-blockers to treat abnormal heart rhythms
• Implantable cardioverter defibrillator (ICD): Using an ICD device, which is placed under the skin near the heart to monitor heart rhythms
• Cardiac ablation: Delivering extremely cold or heat energy to destroy harmful heart tissue that is causing the arrhythmias
• Heart transplant: Replacing your heart with an undamaged heart to treat symptoms when other treatments have not been effective

It’s not possible to prevent ARVC since it’s a genetic condition. But if you have ARVC, there are some things you can do to lower the risk of heart rhythm problems. Your healthcare provider will recommend restricting vigorous exercise and taking medications as directed.

However, you can incorporate some lifestyle habits to maintain your heart health. For example:

• Eat a heart-healthy diet (such as the DASH diet) which is low in salt, processed foods, saturated and trans fats, and high in fruits, vegetables, whole grain, nuts, and legumes
• Get at least seven hours of sleep per night
• Avoid or quit smoking
• Manage other underlying conditions that you may have, such as hypertension (high blood pressure), diabetes, and high cholesterol

ARVC is a condition that requires lifelong management with a cardiologist. The prognosis (or outlook) of the condition depends on several factors, such as the genetic mutation you have, the type of arrhythmias you’re experiencing, the amount of heart tissue that is damaged, and the severity of your symptoms. However, the best way to improve your life expectancy is to see your healthcare team regularly and follow your treatment plan as directed.

Having a genetic mutation that is linked with ARVC doesn’t automatically mean you’ll develop the condition. However, studies that looked at a specific mutation that was always present with ARVC found that the life expectancy of ARVC was 40 years in males and 70 years in females if a person with the condition did not receive treatment for their symptoms. However, life expectancy is longer if you receive treatment for ARVC.

Living with a health condition can be a source of stress, and taking care of your mental health is just as important when you’re diagnosed with ARVC. Lean on your loved ones and ask your healthcare team for support when needed. You may also consider meeting with an ARVC support group for additional resources or a mental healthcare provider to tend to your emotional well-being.