Arrhythmogenic right ventricular cardiomyopathy (ARVC; also known as
arrhythmogenic right ventricular dysplasia - ARVD) is a heart muscle disease
that can cause life-threatening heart rhythm abnormalities and, rarely,
significant weakening of the right side of the heart.
caused by a defect in the ‘glue’ that holds the muscle cells of the heart
together. As the heart muscle is continuously stretching and contracting, the
‘glue’ breaks down, the muscle cells separate and some die. The body then tries
to repair this by replacing the normal heart muscle cells with scar and fat
process creates small islands of heart tissue that do not conduct electrical
signals in the normal way and are not able to contract in the normal way. This
allows abnormal ‘short-circuits’ to develop, which cause the heart rhythm
abnormalities that define the condition.
Sanjay Sharma describes
Initially, only small areas of the right ventricle
may be affected but the condition may progress over time, becoming more
widespread and even involving the left ventricle. In fact, some forms only
affect the left ventricle.
Professor Sanjay Sharma
discusses the genetics of ARVC
ARVC is thought to affect between 1 in 1,000
and 1 in 5,000 people, depending on which area of the world has been
studied and the definition of the condition used. The disease affects
men and women equally and has been recognised in people from many ethnic
backgrounds. It tends to first present in early adulthood but can
occasionally affect children.
ARVC commonly runs in families and several
genes have been identified as causing the condition in these families.
These genes are needed to make the proteins that form the glue holding
the cells together. Therefore, if these genes do not work correctly the
glue does not hold the cells together as it should.
The pattern of inheritance is known as
‘autosomal dominant with variable penetrance’ meaning the child of an
affected parent will have 50% chance of inheriting the abnormal gene,
but will not then necessarily go on to have the condition.
The other factors that contribute to the disease are
not fully understood but may include viral infection, inflammation and endurance
most common symptom is palpitations. Palpitations can occur at rest but are
often triggered by physical activity. They may be associated with chest pain,
light-headedness or blackouts. ARVC is also a recognised cause of sudden
cardiac death. If the right ventricle becomes significantly weakened it can
cause breathlessness and swelling of the legs and abdomen (features sometimes
referred to as ‘right heart failure’) although this is relatively uncommon and
tends to affect those who have had the condition for several years or longer.
Many people with ARVC do not have any symptoms, however.
ECG can often pick up an abnormality, but the signs on an echocardiogram can be
very subtle in the early stages of the condition. Therefore, more detailed
imaging with a
magnetic resonance imaging (MRI) scan
may be required. Other possible tests include an
exercise ECG and
24-hour ECG to record any palpitations or abnormal heart rhythms.
CRY Consultant Cardiologist
Professor Sanjay Sharma
discusses how ARVC is
some specialist centres, it is possible to pass a wire into the heart via the
bloodstream and to take a small sample (biopsy) of the heart muscle to examine
under a microscope. Even this can still miss ARVC and can be associated with
some risk to the patient, and so is not used routinely.
a specific genetic mutation has been identified as the cause of ARVC in an
individual, family members can be tested for this same mutation with a blood
test. However, since a significant proportion of people with ARVC do not have a
gene identified, this is not always possible.
CRY Consultant Cardiologist Professor
discusses treatments for ARVC
Treatment for ARVC is aimed at preventing episodes of symptomatic palpitations
and reducing the risk of sudden death. A specialist will advise on lifestyle
modifications. It is most likely that this will include advice to not
participate in competitive, strenuous physical activities since this can be a
trigger for dangerous heart rhythm disturbances.
Medication including beta-blockers, sotalol and amiodarone can be used to reduce
palpitations and abnormal rhythms.
symptomatic episodes continue despite medication, a procedure called an
ablation can be used. This targets the particular area of the heart causing
the abnormal rhythm and this area is cauterised - or burnt - using wires passed
into the heart via the bloodstream. While this is a very effective treatment for
some types of heart rhythm problems, long-term success rates are lower in ARVC
as new problematic areas of the heart can develop over time.
In people for whom medication is unsuccessful in
controlling abnormal rhythms; or where blackouts, near blackouts or even a
cardiac arrest have occurred, an
implantable cardiac defibrillator (ICD) may be fitted to prevent sudden
Regular check-ups, often involving repeat
investigations, are required for people diagnosed with ARVC.
Since the disease runs in families, all immediate
blood relatives of people with ARVC should be screened for the condition.
It is recommended that 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.