Arrhythmogenic right ventricular cardiomyopathy
What is arrhythmogenic right ventricular cardiomyopathy, and how does it affect the heart?
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a condition that affects the heart muscle, especially the right ventricle. The muscle tissue is replaced by fatty tissue and this causes scarring in the right ventricle muscle. The scarring of the muscle may cause abnormal heart rhythm (ventricular tachycardia) and, if not treated, can lead to cardiac arrest.
ARVC is a rare hereditary condition. It affects one patient in every 2000 to 5000. It is more common in men, but can also affect women. About 40 per cent of patients have a genetic mutation that causes ARVC.
- palpitations (heartbeats that feel strange)
- syncope (fainting that is caused by a cardiovascular issue)
- cardiac arrest
- heart failure
- shortness of breath
- fatigue
- dizziness
- medical and family history
- echocardiogram
- electrocardiogram (ECG/EKG)
- exercise stress test
- Holter monitor
- cardiac magnetic resonance imaging (MRI)
- genetic testing
- medications
- minimally invasive procedures, for example implanting a cardioverter defibrillator (ICD)
- surgery, for example ablation
- limiting certain types of physical activity
I am a patient diagnosed with ARVC. What do my genetic test results mean?
This result is inconclusive.
A negative test result doesn’t completely rule out the possibility of other genetic factors that might be found in the future. We recommend your immediate family members (parents, siblings, and children) have regular check-ups with experts every three years. These check-ups should include an echocardiogram, electrocardiogram and a Holter.
Remember: the negative genetic test result doesn't change your diagnosis or affect the care plan that you have with your cardiologist.
This result confirms the genetic nature of the condition. In most cases, the risk of transmitting the mutation to your children is 50 per cent or 1 in 2. Your parents and siblings also have a risk of 50 per cent of inheriting this mutation. This result can’t predict how the condition will develop or what specific symptoms you might have.
Sometimes a variation in genes known to be associated with ARVC is found, but the scientific information on this variant is limited. These variants are called variants of uncertain significance (VUS). This type of result is inconclusive and we do not recommend testing this variant in family members. This result is treated like a negative result, and clinical evaluations for close family members are recommended. If a family member has the same symptoms as you, we may consider testing for the variant and evaluating its impact in the family.
We invite you and your family to stay in touch with the clinic and check in again in 2 to 3 years, as your genetic results may change over time.
I am a family member of a patient with ARVC. What should I expect?
You have the same mutation as a family member who is diagnosed with ARVC, but you don't have any symptoms. This is common in cardio-genetics. ARVC is a complex condition that can be influenced by small genetic changes and environmental factors.
Having the mutation doesn't mean you will develop symptoms of ARVC. Your cardiologist will likely ask for yearly check-ups to monitor your heart health so, if any issues develop, they are caught early and can be treated. If you have children, they have a 50 per cent risk of inheriting the same mutation. Genetic screening will be available to them.
You’re not at an increased risk of developing ARVC. There’s no need for specialized screenings for ARVC. You didn’t inherit the mutation, so you can’t pass it on to your children.