National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Arrhythmogenic right ventricular cardiomyopathy


Other Names:
ARVD; ARVC; Arrhythmogenic right ventricular dysplasia
Categories:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. The condition is progressive and over time the right ventricle loses the ability to pump blood.[1] Individuals with ARVC often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. Other symptoms of ARVC include chest palpitations, dizziness, fainting and shortness of breath. Often, sudden cardiac death can be the first sign of ARVC. ARVC is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVC could be caused by an infection of the heart muscle. Treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation.[2][3]
Last updated: 1/30/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Right ventricular cardiomyopathy 0011663
Sudden cardiac death
Premature sudden cardiac death
0001645
Ventricular arrhythmia 0004308
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Last updated: 7/1/2020
The genetic basis of ARVC is complex and not fully understood. There are different ways in which ARVC can be inherited. The most common pattern of inheritance for ARVC is autosomal dominant. This means that a mutation in only one copy of the disease-causing gene is sufficient to cause the condition. An individual with an autosomal dominant condition has a 50% risk to pass the mutation on to each child. Other individuals with ARVC have an autosomal recessive form. This means mutations in both copies of the gene must be present to have a predisposition to ARVC. Parents of an individual with an autosomal recessive condition each carry one mutated copy of the gene and are referred to as carriers. When two carriers of an autosomal recessive condition have children, each child has a 25% risk to inherit mutations and be affected.[2] Genetic testing can help determine which pattern of inheritance an affected individual has.
Last updated: 1/30/2013

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes idiopathic RV outflow tract tachycardia, myocarditis, sarcoidosis and congenital heart diseases (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Arrhythmogenic right ventricular cardiomyopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Arrhythmogenic right ventricular cardiomyopathy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My husband's brother just found out he has ARVC. My husband plans to have genetic testing. If my husband does not carry the gene, are my children still at risk for developing this condition? Also, if you have the gene will it be manifested as ARVC or do you just have the possibility of it developing? See answer


  1. Cleveland Clinic. Arrhythmogenic Right Ventricular Dysplasia (ARVD). March 2010; http://my.clevelandclinic.org/heart/disorders/heartfailure/arvd.aspx. Accessed 1/28/2013.
  2. Johns Hopkins Medicine. Symptoms and Diagnosis. ARVD. http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/symptoms_diagnosis/patients/index.html. Accessed 1/28/2013.
  3. Eric Anderson. Arrhythmogenic Right Ventricular Dysplasia. American Family Physician. April 2006; 8:1391-1398. http://www.aafp.org/afp/2006/0415/p1391.html. Accessed 1/28/2013.