Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)

What is Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive disease of the heart muscle where the heart muscle is gradually replaced with fat and scar tissue. The fat and scar tissue interfere with the heart’s electrical system and give rise to abnormal heart rhythms called arrhythmias. ARVC may affect the heart muscle in one or both ventricles of the heart, however the most well-recognized form predominantly affects the right ventricle. Other forms of combined arrhythmia and cardiomyopathy exist and are often called arrhythmogenic cardiomyopathy (ACM).

Some basic facts about Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)

ARVC is estimated to affect approximately 1 in 2,000 to 5,000 people.

Symptoms of ARVC may include breathlessness, dizziness, fainting, heart palpitations, chest pain, and cardiac arrest. Many people with ARVC do not have any symptoms but are still at risk for sudden death.

ARVC is a progressive disease, which means that it worsens over time. The early stages may be very subtle and difficult to diagnose. Later stages of ARVC affect more of the heart muscle and lead to more prominent and frequent symptoms.

An early diagnosis of ARVC is important since the first symptom for some people is sudden cardiac death. The prognosis for patients diagnosed early and started on appropriate therapy is good.

What causes Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy) and how is it diagnosed?

ARVC is an inherited disorder triggered by genetic variants that cause the heart muscle to be replaced by fat and scar tissue.

Diagnosing ARVC is challenging and requires a combination of diagnostic tests. Non-invasive testing testing may include an electrocardiogram to measure the heart’s electrical patterns and echocardiogram or cardiac magnetic resonance imaging (MRI) to visualize changes in the heart structure. More invasive testing may include cardiac catheterization and biopsy of the heart.

Role of genetics in diagnosis

Genetic testing for ARVC is a component of the formal ARVC diagnostic criteria and can help confirm a suspected diagnosis.

A negative genetic test result in an individual with ARVC does not mean the individual does not have ARVC. It simply means we have not yet identified what caused the disease for this individual. Not all individuals with ARVC will have a positive genetic test result.

How is Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy) treated?

ARVC may be treated through a combination of medication to control the heartbeat, lifestyle adjustments, and when appropriate, implantation of cardioverter defibrillator (ICD) to monitor and reestablish typical heartbeat. Your cardiologist can help you to make informed medical decisions and provide an opportunity to start risk reduction strategies.

Role of genetics in treatment

Genetic testing can help confirm a diagnosis of suspected ARVC, which can be especially crucial for helping diagnose the disease in the earliest stages.

If the genetic cause of ARVC is identified, genetic testing for other family members may be indicated to assess their risk for ARVC and the need for possibly life-saving treatment. Family testing is important because relatives may be at risk regardless of whether or not they are experiencing any symptoms.

How do I arrange for genetic testing?

Your physician will assist you in identifying and arranging for the appropriate genetic test(s). If you have specific questions or concerns about the testing, your physician may refer you to a genetic counselor to discuss further. Once you are ready to proceed with genetic testing, you will need to submit either a blood or saliva sample.

Other names for Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)

Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Arrhythmogenic Cardiomyopathy (ACM)