Arrhythmogenic right ventricular cardiomyopathy

Symptoms

What are the main symptoms of arrhythmogenic right ventricular cardiomyopathy?

The most common signs and symptoms of arrhythmogenic right ventricular cardiomyopathy (ARVC) are heart palpitations, fainting, or sudden death. Fainting while exercising or exerting effort and specific heart rhythm findings on an electrocardiogram, for example, your doctor may find a T wave inversion in certain precordial leads ( V1-V3) or an epsilon wave which is a a sign at the end of the QRS complex. These are frequent findings of ARVC. These signs and symptoms of ARVC typically manifest in adults, however, sometime younger teens can have these signs and symptoms.

ARVC is a progressive disease that gradually causes worsening health issues. In order to better explain these changes over time, doctors divided the stages of disease worsening into four described stages that include:

  1. Concealed phase- An early phase of ARVC with no clinical signs or symptoms of the condition, but still with an high rate of fainting (syncope) and sudden cardiac death.
  2. Overt Intermediate phase- Frequent dangerous heart arrhythmias caused by errors in the electrical signaling of the heart and resulting in heart palpitations, fainting, and other symptoms of ARVC.
  3. Right ventricular failure- This weakening of the heart's right lower chamber (the ventricle) means it is too damaged to properly get enough blood pumped to the lungs and as a result, blood pools in the veins. Symptoms including: venous hypertension, fatigue, shortness of breath, enlarged liver, fluid retention in the legs (peripheral edema), lack of appetite, nausea, and abdominal pain.
  4. Biventricular pump failure- Following right ventricle failure, the lower left chamber of the heart may become weak too. In this situation both the right and left ventricles are not pumping well or working together and the heart is failing. Symptoms in this stage may include: enlarge heart, venous hypertension, fatigue, shortness of breath, enlarged liver, fluid retention in the legs (peripheral edema), lack of appetite, nausea, and abdominal pain.
References
Show More Content Like This

More Symptoms Content

What makes arrhythmogenic right ventricular cardiomyopathy worse?

If I have arrhythmogenic right ventricular cardiomyopathy will I always have symptoms?

Tell me about the different types of arrhythmogenic right ventricular cardiomyopathy.

What should I be looking for in arrhythmogenic right ventricular cardiomyopathy in my body?

What other diseases look like arrhythmogenic right ventricular cardiomyopathy?

Are any symptoms of arrhythmogenic right ventricular cardiomyopathy "odd" or "unique"?

What makes arrhythmogenic right ventricular cardiomyopathy worse?

A person living with arrhythmogenic right ventricular cardiomyopathy (ARVC), should discuss with their cardiologist their recommended activity and sports limitations. Many individuals with ARVC will be told to avoid certain athletic sports (e.g., competitive sports) that can put a strain on the right side of the heart and increase risk of abnormal heart rhythms that can then occur. There may be additional recommendations doctors may have such as avoiding smoking, excess weight gain, certain medications, and drinking alcoholic beverages to reduce the risk of arrhythmias. More information about limitations can be found in the American Heart Association's "Patient's guide to arrhythmogenic right ventricular dysplasia/cardiomyopathy: past to present" which can be found online at https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.113.004845 and the British Heart Foundation's Guide to ARVC that can be accessed here: https://www.bhf.org.uk/informationsupport/conditions/cardiomyopathy/arrhythmogenic-right-ventricular-cardiomyopathy and British Heart Foundation "Inherited heart conditions: Arrhythmogenic right ventricular cardiomyopathy". https://www.cardiomyopathy.org/downloads/information-section/bhf-booklets/arrhythmogenic-right-ventricular-cardiomyopathy.pdf.

References
If I have arrhythmogenic right ventricular cardiomyopathy will I always have symptoms?

Having a change or mutation in a gene that is associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) does not always cause the symptoms and complications of the condition. Due to many other factors we can't fully predict, some individuals with gene mutations in ARVC related genes can live standard life span without arrhythmias (a type of irregular heartbeat) or heart palpitations while others will have full progression of ARVC including sudden death. This is called "reduced penetrance" or variable penetrance", a term that means that not all people with a particular genetic change (such as a mutation in a specific gene) will exhibit signs and symptoms of a genetic disorder. However, all individuals with a gene mutations in ARVC related genes should be monitored closely for signs of the condition as it is progressive and early disease stages are often subtle.

Sometimes, the first sign that ARVC is running in a family is that someone will pass away from sudden cardiac death.

If someone has passed away in a family due to this cause, it is important to discuss possible inherited reasons with a cardiologist, medical geneticist, and/or genetic counselor familiar with genetic causes of sudden cardiac death. They can discuss testing options and possible causes of the condition. A cardiac focused genetic counselor in your area can be located using this link.

References
Tell me about the different types of arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) can cause a range of health issues from fainting and heart rhythm problems to sudden death and heart failure. Individuals in a family with the same ARVC related genetic changes can have no symptoms or severe disease. As a progressive condition, ARVC moves through different stages of symptoms that may look like different diseases to patients and doctors. Having said this, there are two general "types" of ARVC: An autosomal dominant form of ARVC and autosomal recessive forms of ARVC. The autosomal dominant form of ARVC is the more common presentation. Typically individuals with the autosomal dominant form of ARVC have heart-related symptoms of the disease, but not much impact on their physical appearance. In autosomal recessive inheritance, some individuals will appears similarly to autosomal dominant ARVC with heart focused symptoms, but other individuals can also have distinguishing physical features such palmoplantar keratosis, a condition whereby the skin on the palms of the hands and bottoms of the feet becomes very thick. Wooly or short curly hair hair is often noted. Individuals with autosomal recessive ARVC including these additional physical features are categorized as having Naxos disease.

References
What other diseases look like arrhythmogenic right ventricular cardiomyopathy?

There are several conditions that cause similar health issues to arrhythmogenic right ventricular cardiomyopathy (ARVC). These include both genetic conditions and those that are not:

  • Active myocarditis
  • Anterior Polar Cataract (APC)
  • Brugada syndromeDES-related cardiomyopathy
  • Coronary artery disease (CAD) and myocardial infarction (heart attack)
  • Right ventricular outflow tract tachycardia (RVOT)
  • Sarcoidosis
  • Long-QT syndrome
  • Other cardiomyopathies

A cardiologist, medical geneticist, and/or genetic counselor familiar with genetic causes of heart disease and sudden cardiac death can help determine which condition is most likely. They can discuss testing options to distinguish between possible causes of heart issues. A cardiac focused genetic counselor in your area can be located using this link.

References
Are any symptoms of arrhythmogenic right ventricular cardiomyopathy "odd" or "unique"?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) should be suspected in individuals with any of the following findings:

  • Fainting/Syncope- particularly with exercise or exertion
  • Palpitations
  • Sudden cardiac death
  • Abnormal ECG with T wave inversion in right precordial leads V1, V2, and V3 or beyond and an epsilon wave - a small positive deflection at the end of the QRS complex
  • Abnormal right ventricle seen through cardiac imaging
References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me