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American Family Children's Hospital
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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

The Inherited Arrhythmia Clinic in Madison, Wisconsin, was established to meet the needs of individuals and families with possible inherited arrhythmia syndromes, including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), caused by an abnormality of heart proteins.

 

Arrhythmogenic Right Ventricular Cardiomyopathy

 

Arrythmogenic Right Ventricular Cardiomyopathy is caused by an abnormality of the heart's desmosomes, which are proteins that help heart muscle cells maintain a mechanical attachment to each other. In a person with Arrhythmogenic Right Ventricular Cardiomyopathy, heart muscle cells that are damaged as a result of normal wear and tear tend to die rather than repairing themselves. These damaged heart cells become fibrous and cause scarring within the heart muscle, which can affect its ability to beat regularly and effectively.

 

With Arrhythmogenic Right Ventricular Cardiomyopathy, changes in the heart muscle structure typically affect the right ventricle of the heart, which can become enlarged due to a buildup of fibrous and fatty tissue. As this is a progressive condition, it is possible that the left ventricle may become affected as well.

 

Arrhythmogenic Right Ventricular Cardiomyopathy affects about one in 2,500 people. Males and females can both have this condition, but males are more likely to show symptoms.

 

Arrhythmogenic Right Ventricular Cardiomyopathy Symptoms

 

The symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy can range from palpitations, dizziness, and sudden fainting to heart failure and sudden cardiac arrest/death. Even within the same family, there can be considerable variability in the severity of the condition. Typically, Arrhythmogenic Right Ventricular Cardiomyopathy presents between the ages of 20 and 40 years old, but this condition can also be seen in people of all ages.

 

Diagnosing Arrhythmogenic Right Ventricular Cardiomyopathy

 

In making the diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy, our clinic staff takes into account a person's symptoms and the results of a number of different cardiac tests, including evaluations of the heart rhythm (ECG, Holter monitor) and heart structure (echocardiogram, cardiac MRI). We also consider a patient's family history and results of genetic testing.

 

Treating Arrhythmogenic Right Ventricular Cardiomyopathy

 

Currently, there is no cure for Arrhythmogenic Right Ventricular Cardiomyopathy. Certain medications, such as beta blockers or anti-arrhythmic drugs, can help some patients reduce their risk of arrhythmias.

 

However, other patients may need more medical intervention. For example, many patients with Arrhythmogenic Right Ventricular Cardiomyopathy will have a device called an implantable cardioverter defibrillator (ICD) implanted. An ICD is essentially a pacemaker that can also shock the heart in the event of a dangerous arrhythmia. We also make recommendations for a person's lifestyle, such as eliminating or avoiding activities like strenuous exercise, which could trigger a dangerous arrhythmia.

 

Arrhythmogenic Right Ventricular Cardiomyopathy and Genetics

 

At this time, there are several genes identified that are known to be associated with Arrhythmogenic Right Ventricular Cardiomyopathy. The majority of these genes are important for the proper formation of the proteins that hold the muscle cells of the heart together. Genetic testing is available to determine if a mutation, or gene change, can be found in any one of these genes. Through testing we are typically able to identify a gene mutation in about 50 percent of patients with Arrhythmogenic Right Ventricular Cardiomyopathy symptoms. This means there are still many patients who have genetic mutations that cannot be identified. In the event that a mutation is not detectable in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy, we will make recommendations for screening family members who may be at risk.

 

If a person does have a genetic mutation, we can test other family members to determine if they share this same mutation. Relatives with an identified mutation have a 50 percent chance of sharing the same gene abnormality. The presence of a genetic mutation does not automatically indicate that a family member will also have symptoms or will develop symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy. It does, however, let us know who should be evaluated by a cardiologist and which family members do not need a cardiac evaluation for Arrhythmogenic Right Ventricular Cardiomyopathy.