Arrhythmogenic cardiomyopathy

Overview

Arrhythmogenic cardiomyopathy (kahr-dee-o-my-OP-uh-thee) is a rare disease of the heart muscle. The The heart muscle is replaced by fat and scar tissue. The damaged heart muscle changes how the heart beats and how well it pumps blood. Arrhythmogenic means that the condition causes irregular heartbeats, called arrhythmias.

Some people with arrhythmogenic cardiomyopathy (ACM) have dangerous changes to the heartbeat that may lead to sudden cardiac arrest. ACM also may lead to heart failure.

Arrhythmogenic cardiomyopathy was once thought to happen only in adults. It's now known that children and teens can have it too. The condition can affect the right or left lower heart chamber, or both. These chambers are called the ventricles.

Treatment of ACM depends on your symptoms and how well your heart pumps blood. Treatment can help manage the condition and may help you feel better. Medicines can lessen the strain on the heart and ease symptoms. But some people with ACM need a heart transplant.

Types

There are different types of arrhythmogenic cardiomyopathy (ACM). They include:

• Arrhythmogenic right ventricular cardiomyopathy (ARVC). This type mainly affects the lower right heart chamber, called the right ventricle. Older names for this type are arrhythmogenic right ventricular dysplasia (ARVD) and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
• Nondilated left ventricular cardiomyopathy (NDLVC). This type mainly affects the lower left heart chamber, called the left ventricle. It also has been called arrhythmogenic left ventricular cardiomyopathy (ALVC) or left-dominant ARVC. Some left-sided types also may be called arrhythmogenic dilated cardiomyopathy.
• Biventricular arrhythmogenic cardiomyopathy. This type of ACM affects both lower heart chambers.

There also are different types of cardiomyopathy. This article focuses on arrhythmogenic cardiomyopathy.

Other types of cardiomyopathy include:

• Dilated cardiomyopathy.
• Peripartum cardiomyopathy (PPCM).
• Hypertrophic cardiomyopathy.
• Restrictive cardiomyopathy.

Symptoms

Symptoms of arrhythmogenic cardiomyopathy (ACM) happen when the heart can't pump blood as it should or when the heartbeat changes.

Some people may not have any symptoms. The condition may be found when tests are done for another reason.

ACM symptoms may include:

• A fast or pounding heartbeat.
• Fainting.
• Dizziness.

Sudden cardiac arrest may be the first sign of arrhythmogenic cardiomyopathy, especially in young people and competitive athletes. Sudden cardiac arrest is the sudden loss of all heart activity due to an irregular heart rhythm. Breathing stops. The person becomes unconscious. Without immediate treatment, sudden cardiac arrest can lead to death.

Arrhythmogenic cardiomyopathy also can cause symptoms of heart failure, such as:

• Shortness of breath or trouble breathing with activity or even at rest.
• Trouble breathing when you lie flat.
• A cough while lying down.
• Feeling very tired, even after getting rest.
• Swelling in your legs, ankles or feet.

These symptoms may happen when the heart can't pump blood as it should. But there are many other possible causes. Your healthcare professional can do tests to learn if your symptoms are due to heart failure or something else.

When to seek care

Call your healthcare professional if you have symptoms of arrhythmogenic cardiomyopathy, including a fast or pounding heartbeat that can't be explained.

When to seek emergency care

Call 911 or your local emergency number right away if you have severe symptoms such as:

• A very fast or pounding heartbeat with shortness of breath, chest pain or fainting.
• Fainting with a fast or pounding heartbeat.
• Sudden, severe shortness of breath.
• Chest pain that is not explained or lasts for more than a few minutes.

Always call 911 or your local emergency number if you think you might be having a heart attack.

Causes

Arrhythmogenic cardiomyopathy (ACM) often is caused by changes in some genes. These gene changes can be passed down through families. This means they are inherited. The genes can affect parts of cell structures that help heart muscle cells stay together. These cell structures are called desmosomes. When desmosomes do not work as they should, heart muscle cells may pull apart. Over time, this can lead to heart damage.

The gene most often linked to arrhythmogenic cardiomyopathy is PKP2. But many other genes have been linked to the condition.

A rare disease called Naxos disease can cause arrhythmogenic right ventricular cardiomyopathy. Naxos disease symptoms include woolly hair and thick skin on the palms of the hands and soles of the feet.

Risk factors

Some gene changes make you more likely to get arrhythmogenic cardiomyopathy (ACM). The gene changes linked to arrhythmogenic cardiomyopathy can be passed down in families. But a person can have a gene change linked to the condition but never develop arrhythmogenic cardiomyopathy.

Complications

Arrhythmogenic cardiomyopathy (ACM) can lead to serious health conditions, including:

• Irregular heartbeats. Arrhythmogenic cardiomyopathy can damage the heart muscle. This can cause changes in the heartbeat, called arrhythmias. Dangerous heartbeats can include ventricular tachycardia and ventricular fibrillation. Both can lead to a life-threatening condition called sudden cardiac arrest.
• Sudden cardiac arrest and sudden cardiac death. This is the sudden loss of all heart activity due to an irregular heartbeat. Breathing stops. The person loses consciousness. Without emergency treatment right away, sudden cardiac arrest can lead to sudden cardiac death. Sudden cardiac arrest is not the same as a heart attack.
• Heart failure. The heart can't pump enough blood to meet the body's needs. Without treatment, heart failure can be life-threatening. Some people need a heart device or heart transplant.

Prevention

There is no known way to prevent arrhythmogenic cardiomyopathy. Some risk factors also cannot be changed.