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Genetics Home Reference: your guide to understanding genetic conditions
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Arrhythmogenic right ventricular cardiomyopathy

(often shortened to ARVC)
Reviewed May 2010

What is ARVC?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.

How common is ARVC?

ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms.

What genes are related to ARVC?

ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells.

Mutations in the genes responsible for ARVC often impair the normal function of desmosomes. Without normal desmosomes, cells of the myocardium detach from one another and die, particularly when the heart muscle is placed under stress (such as during vigorous exercise). These changes primarily affect the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. The damaged myocardium is gradually replaced by fat and scar tissue. As this abnormal tissue builds up, the walls of the right ventricle become stretched out, preventing the heart from pumping blood effectively. These changes also disrupt the electrical signals that control the heartbeat, which can lead to arrhythmia.

Gene mutations have been found in 30 to 40 percent of people with ARVC. Mutations in a gene called PKP2 are most common. In people without an identified mutation, the cause of the disorder is unknown. Researchers are looking for additional genetic factors, particularly those involved in the function of desmosomes, that may play a role in causing ARVC.

Related Gene(s)

Changes in these genes are associated with arrhythmogenic right ventricular cardiomyopathy.

  • DSC2
  • DSG2
  • DSP
  • JUP
  • PKP2
  • RYR2
  • TGFB3
  • TMEM43

How do people inherit ARVC?

Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder.

Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of ARVC?

These resources address the diagnosis or management of ARVC and may include treatment providers.

  • Brigham and Women's Hospital (http://www.brighamandwomens.org/Departments_and_Services/medicine/services/cvcenter/arrhythmia/ARVD.aspx)
  • Cleveland Clinic: How Are Arrhythmias Treated? (http://my.clevelandclinic.org/services/heart/disorders/arrhythmia/arrhtymiatreatment)
  • Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (http://www.ncbi.nlm.nih.gov/books/NBK1131)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0349788)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1862511)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1857777)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1864850)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 12 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1969081)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1832931)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865882)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865881)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858379)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 6 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858378)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 7 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836704)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 8 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1843896)
  • Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 9 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836906)
  • Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN128708)
  • St. Luke's-Roosevelt Hospital Center (http://www.geneticheartdisease.org/arvd.htm)

You might also find information on the diagnosis or management of ARVC in Educational resources (http://www.ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about ARVC?

You may find the following resources about ARVC helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for ARVC?

  • arrhythmogenic right ventricular cardiomyopathy-dysplasia
  • arrhythmogenic right ventricular dysplasia
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • ARVD
  • ARVD/C
  • right ventricular dysplasia, arrhythmogenic
  • ventricular dysplasia, right, arrhythmogenic

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about ARVC?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding ARVC?

arrhythmia ; autosomal ; autosomal dominant ; autosomal recessive ; cardiac ; cardiomyopathy ; cell ; dysplasia ; fainting ; familial ; gene ; heart failure ; inheritance ; muscle cells ; mutation ; myocardium ; palpitations ; pattern of inheritance ; recessive ; stress ; syncope ; syndrome ; tachycardia ; tissue ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009 Apr 11;373(9671):1289-300. doi: 10.1016/S0140-6736(09)60256-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19362677?dopt=Abstract)
  • British Heart Foundation: ARVC Booklet (http://www.cardiomyopathy.org/assets/files/BHF_ARVC_CMA%20final%281%29.pdf)
  • Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, Roguin A, Tichnell C, James C, Russell SD, Judge DP, Abraham T, Spevak PJ, Bluemke DA, Calkins H. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005 Dec 20;112(25):3823-32. Epub 2005 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/16344387?dopt=Abstract)
  • den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3. (http://www.ncbi.nlm.nih.gov/pubmed/20031617?dopt=Abstract)
  • Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (http://www.ncbi.nlm.nih.gov/books/NBK1131)
  • Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2004 Oct 5;110(14):1879-84. Epub 2004 Sep 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15451782?dopt=Abstract)
  • Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010 Apr 6;121(13):1533-41. doi: 10.1161/CIRCULATIONAHA.108.840827. Epub 2010 Feb 19. (http://www.ncbi.nlm.nih.gov/pubmed/20172911?dopt=Abstract)
  • Sen-Chowdhry S, Morgan RD, Chambers JC, McKenna WJ. Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu Rev Med. 2010;61:233-53. doi: 10.1146/annurev.med.052208.130419. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20059337?dopt=Abstract)
  • Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007 Apr 3;115(13):1710-20. Epub 2007 Mar 19. (http://www.ncbi.nlm.nih.gov/pubmed/17372169?dopt=Abstract)
  • van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon? Curr Opin Cardiol. 2007 May;22(3):185-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17413274?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2010
Published: October 27, 2014