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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Information last reviewed: January 2013

 

What is ARVC?


Symptoms


How is ARVC diagnosed?


What treatment is available?

 


   

What is ARVC?

The estimated prevalence of arrhythmogenic right ventricular cardiomyopathy (ARVC) - also known as arrhythmogenic right ventricular dysplasia (ARVD) - in the general population ranges from 1 in 1,000 to 1 in 5,000, depending on the definition of the condition.

It was first recognised in the late 1970s. It is thought that even more information regarding ARVC will be available in the coming years, to improve understanding of the condition.

The disease affects men and women equally and has been recognised in people of diverse ethnic backgrounds. It tends to develop in early adulthood but can occasionally affect children.

ARVC is caused by a defect in the ‘glue’ that holds the muscle cells of the heart together, working as a unit.

 

CRY Consultant Cardiologist Professor Sanjay Sharma describes arrhythmogenic right ventricular cardiomyopathy (ARVC)

 

Professor Sanjay Sharma discusses the genetics of ARVC

When stretched, the ‘glue’ breaks down, the muscle cells separate and some die. The body then tries to repair this, resulting in replacement of the normal heart muscle cells by scar and fat tissue.

This may only involve small areas of the right ventricle but may progress with time and may become more widespread and even involve the left ventricle. Some forms only affect the left ventricle.

The precise cause of ARVC is not known. The condition is normally familial and is passed on in the genes from one generation to the next.

The pattern of inheritance is autosomal dominant such that the child of an affected parent will have 50% chance of inheriting the abnormal gene.


Symptoms

Often people have no symptoms at all, although they may feel palpitations (feeling the pulse racing or the heart pounding erratically or rapidly) which is the most common symptom. This may also be associated with light-headedness or a blackout. Unlike most cardiomyopathies, shortness of breath and chest pains are unusual symptoms and people may only experience these very late on in the condition, if at all.
 

How is ARVC diagnosed?

The diagnosis can be extremely difficult and usually requires several tests undertaken by a specialist, as there is no single ‘diagnostic’ test. In the first instance, a detailed history and examination is required. Most of the tests are painless and non-invasive and include an ECG, signal average ECG and an ultrasound scan (ECHO).

The ECG can often pick up an abnormality, but the signs on an ECHO can be very subtle in the early stages of the condition. They are also often only seen in the right ventricle. Further imaging with a magnetic resonance imaging (MRI) scan may be required.

Other tests that may be required include an exercise ECG and a Holter monitor (tape) to try to record any palpitations.

CRY Consultant Cardiologist Professor Sanjay Sharma
discusses how ARVC is diagnosed

 

In some specialist centres, further invasive tests are performed to identify the electrical faults of the heart muscle associated with ARVC (EP studies); and to take a small sample (biopsy) of the heart muscle and examine it under the microscope. These investigations can still miss ARVC and can be associated with some risk to the patient.
 

Advances in genetics (DNA) means that in some hospitals, the condition may be diagnosed using a blood test. This test, however, is not available in every hospital, may take up to several months and it is not always positive in ARVC patients (it is possible to identify a defective gene in 50% of patients with definite ARVC). It can be used to confirm the diagnosis or identify blood relatives who may carry the condition.

 

 


CRY Consultant Cardiologist Professor Sanjay Sharma
discusses treatments for ARVC

What treatment is available?

If tests prove positive for ARVC, a specialist will advise on lifestyle modifications. It is most likely that this will include advice to not participate in competitive, strenuous activities. The majority of people with this condition are, however, asymptomatic for many years unless heart rhythm problems (arrhythmia) develop. Treatment aims to prevent or at least control these and tablets may be used to control the irregular heart rhythms. These may include beta-blockers, amiodarone or sotalol.

In people for whom medicine is unsuccessful in controlling rapid heart beats; or where blackouts, near blackouts or even a cardiac arrest have occurred; an implantable cardiac defibrillator (ICD) may be fitted.

In some cases, rhythm problem can be very troublesome and the only way to control them is to destroy the parts of the heart muscle causing them. This is known as ablation and can be performed at the time of an EP study.

 

In a small number of individuals, the heart pump weakens eventually and symptoms of heart failure (breathlessness and ankle swelling) will require treatment - as described in dilated cardiomyopathy.

 

It will be necessary for you to have at least annual check-ups, which usually will include a repeat of the initial investigations. Since the disease runs in families, all immediate blood relatives of people with ARVC should be screened with at least an ECG and ECHO, as well as some of the additional tests described above.

It is recommended that when ARVC is identified in a family member, those first degree blood relatives where the condition is NOT identified should return for repeat testing every 2 - 5 years until the age of 60 (although the exact frequency of repeat testing will vary according to individual circumstances - e.g. number of family members identified with ARVC, presence of symptoms, etc).

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