Arrhythmogenic right ventricular cardiomyopathy

Individuals living with arrhythmogenic right ventricular cardiomyopathy (ARVC) should be monitored by a cardiologist who is knowledgeable about ARVC. Management should be individualized and based on the specific results of detailed clinical and genetic investigation.

You can seek out a specialist at the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist or by asking your doctor for a referral to a heart and vascular institute.

There are multiple support groups for people who have been diagnosed with arrhythmogenic right ventricular cardiomyopathy. One of the biggest support groups for arrhythmogenic right ventricular cardiomyopathy (as well as other cardiomyopathies) is Cardiomyopathy UK. This support group has plenty of information about ARVC, as well as links to other support groups. Another support option is the British Heart Foundation found online at: https://www.bhf.org.uk/

Genetic testing should be offered to anybody who has a personal or family history of arrhythmogenic right ventricular cardiomyopathy (ARVC). Most genetic testing is done as a blood test, but in some cases a cheek swab or saliva sample can also be used depending on the testing lab’s requirements. There are several different ways to test for ARVC including testing for a known family gene change, testing a single gene associated with ARVC, or testing many genes that may case ARVC.

If there is a known gene change or disease-causing variant in a family, a person at risk to have ARVC can have testing specific for that gene variant. This testing is typically quicker as the lab is only looking for once specific gene change.

If an individual with ARVC does not have a known family gene variant, but the cardiologist or genetics team suspects ARVC is caused by changes in a specific gene, they may order testing of a specific gene associated with ARVC. They can test this gene through sequencing ("spell checking" the gene looking for misspellings) and deletion/duplication testing (checking the specific gene for large missing or added DNA that wouldn’t be detected by sequencing).

A multigene panel looks for more than one gene associated with ARVC. On a panel test, the lab may do deletion/duplication analysis and/or sequencing looking for disease-causing gene variants. A gene panel (listed below) is highly likely to identify the genetic cause of ARVC and at the same time minimizing the impact of variants of uncertain significance (VUS) and disease-causing variants in genes that do not explain the symptoms.

Genes that may be included on the genetic testing panel include:

If you have arrhythmogenic right ventricular cardiomyopathy, there are several things you should consider in terms of a job:

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a chronic disease of the heart muscle classified as a cardiomyopathy. There are many types of cardiomyopathies, including dilated, hypertrophic, and restrictive. Treatments, symptoms, and ages of onset vary depending on the type of cardiomyopathy. When someone is diagnosed with cardiomyopathy caused by ARVC, the next step is to work very closely with a cardiologist and electrophysiologist (a doctor that has additional years of training to specialize in the electrical activity of the heart) to determine the most effective monitoring and treatment plan. Electrophysiologists in a specific area can be found on the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist.

Treatment for arrhythmogenic right ventricular cardiomyopathy (ARVC) is focused on reducing the risk of developing symptoms, managing existing health issues, and preventing complications like cardiac arrest and sudden death. Lifestyle modifications such as eating a healthy diet, maintaining a healthy weight, avoiding strenuous physical activity, and quitting smoking may be recommended to reduce current and future heart issues. Prescription medications like beta blockers may be used to reduce blood pressure and decrease the amount of work the heart does on a daily basis. Implanted devices like implantable cardioverter defibrillators (ICD) or pacemakers may be used in individuals with ARVC to control abnormal heart rhythms (arrhythmias), identify any life-threatening arrhythmias, and deliver an electrical shock to ‘reset’ the heart’s rhythm as needed. Heart transplantation may be considered when ARVC has progressed to right and/or biventricular heart failure.

The creation of an individualized monitoring and treatment plan for a person with ARVC is most often designed by a cardiologist and/or electrophysiologist familiar with the progression of the condition. You can seek out a specialist at the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist or by asking your doctor for a referral to a heart and vascular institute.

The British Heart Foundation also has an excellent brochure that describes treatments for ARVC called "Inherited heart conditions: Arrhythmogenic right ventricular cardiomyopathy". https://www.cardiomyopathy.org/downloads/information-section/bhf-booklets/arrhythmogenic-right-ventricular-cardiomyopathy.pdf.

Individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) should avoid exposures and activities that increase the risk of arrhythmias and put extra strain on the heart. This may include:

If you have arrhythmogenic right ventricular cardiomyopathy, these are some important questions to know the answer to when planing a vacation:

Some cardiomyopathies have their own specific driving restrictions and standards to meet if you experience particular symptoms like palpitations, dizziness, loss of consciousness or other symptoms which affect safe driving. Check with your doctor to see if arrhythmogenic right ventricular cardiomyopathy requires additional driving standards.

When a woman or man with arrhythmogenic right ventricular cardiomyopathy (ARVC) is considering having children or if ARVC runs in a person’s family, seeking genetic counseling prior to a pregnancy is often very helpful. Genetic counselors are medical professionals who specialize in genetic testing, interpreting genetic test results, and helping individuals and families navigate both the physical and emotional challenges of inherited disease. During a genetic counseling appointment, the genetic counselor can provide a personalized risk estimate of passing on ARVC to a child and discuss testing options before conception, during pregnancy, or after birth. Having this discussion before pregnancy provides future parents the time to think about the best plan for them and allows time for testing for the gene change or pathogenic variant(s) causing ARVC in the family if it hasn’t yet been found. To find a genetic counselor who in a particular area or who does telemedicine consults, visit the National Society of Genetic Counselor’s "Find a Genetic counselor site at https://www.findageneticcounselor.com/.

Sudden cardiac death is a risk for people who have arrhythmogenic right ventricular cardiomyopathy. Affected individuals may experience arrhythmias, heart palpitations, fainting, and swelling of the legs. Some may have features of other heart defects. Fainting while exercising or exerting effort and specific heart rhythm findings on an electrocardiogram (T wave inversion in right precordial leads V1, V2, and V3 or an epsilon wave – a small positive deflection at the end of the QRS complex) are also frequent signs of ARVC.

Presentations can vary from person to person; someone may exhibit none, all, or few of the above symptoms.

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:

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.

Arrhythmogenic right ventricular cardiomyopathy is usually abbreviated as ARVC or ARVD. Sometimes it may even be abbreviated as ARVC/D. The "D" stands for dysplasia, which was the previous name of this disorder.

We hear of heart-healthy diet everywhere we turn these days and for those individuals living with living with arrhythmogenic right ventricular cardiomyopathy, a heart-healthy diet may be right for you. We know a healthy diet is vital to overall health and this includes your heart. A healthy diet can also help you to keep a healthy weight, which also help’s the heart to function at its best.

Being overweight is a risk factor for high blood pressure and high cholesterol. Being overweight may lead to adult-onset diabetes (type 2).

A good dietician or nutritionist can help you make informed decisions for a heart-healthy diet and help you get the proper essential nutrients, vitamins and minerals to protect your heart.

If an individual has inherited a variant or change in a gene related to arrhythmogenic right ventricular cardiomyopathy (ARVC), it does not necessarily mean that they will have the medical issues related to ARVC. Not every gene change leads to the health conditions associated with ARVC. Some variants are known to be disease-causing or "pathogenic and most often lead to ARVC. Other variants do not cause diseases or are considered "benign". Then there are variants in genes that scientists and healthcare providers do not yet know if they are pathogenic or benign called variants of uncertain significance (VUS).

A genetic counselor or medical geneticist can assist families and individuals better understand the impact of a VUS or if more has learned about the gene variant. A cardiac focused genetic counselor in your area can be located using this link.

In the human body, sodium (salt) is needed to influence fluid balance and blood pressure. It might surprise you to learn that sodium also helps muscles and nerves to work effectively. Too much salt impacts the body and a s a result, we retain water cause swelling or edema. When individuals are living with cardiomyopathy caused by arrhythmogenic right ventricular cardiomyopathy (ARVC), the heart’s workload is higher than average which can lead to high blood pressure. We know that a low-salt diet is especially helpful for certain high risks groups, including patients living with ARVC. To learn if a low-salt or low-sodium diet would be helpful for an individual living with ARVC, they should speak to their doctor or a dietitian. Helpful information on how to avoid salt in a diet is available on the American Heart Association website (https://www.heart.org/en/health-topics/high-blood-pressure/changes-you-can-make-to-manage-high-blood-pressure/managing-blood-pressure-with-a-heart-healthy-diet).

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is also called:

In approximately 60% of individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC), a faulty gene is responsible. The most common genes known to be associated with ARVC are: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43. Genes that are less commonly associated with ARVC include: CTNNA3, DES, LMNA, PLN, RYR2, TGFB3, and TTN. Many of these genes are formally called desmosomal genes. Desmosomal genes provide the blueprints for making desmosomes, which serve to support the role of heart muscle cells by attaching to one another. Desmosomes further provide strength to the heart muscle, as well as helping to cells talk to one another.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) can be diagnosed through a combination of physical exams, reported symptoms, family history review, and heart tests. In many cases, genetic testing also provides a clue into a possible diagnosis of ARVC. There are several different ways to test for ARVC including testing for a known family gene change, testing a single gene associated with ARVC, or testing of many genes that may case ARVC. However, a negative genetic test in someone with signs and symptoms related to ARVC does not rule out the diagnosis as all genes involved in ARVC have not yet been identified.

If someone is concerned that they have ARVC or someone has been diagnosed in a family, it is important to discuss next steps for diagnosis with a cardiologist, medical geneticist, and/or genetic counselor familiar with ARVC. 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.

The main health concerns associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) are abnormal heart rhythms and sudden death. Early signs and symptoms of ARVC may include heart palpitations, light-headedness, fainting, shortness of breath, and abnormal swelling in the legs or abdomen.

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:

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.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart condition that is characterized by progressive replacement of the heart muscle (myocardium) with an combination of abnormal fat and scar tissue called "fibrofatty tissue". This process increases the chance that a person will have heart rhythm abnormalities such as ventricular tachycardia (a fast, abnormal heart rate). Abnormal heart rhythms can lead to sudden death, particularly in young individuals and athletes. ARVC affects the bottom right side of the heart (the right ventricle) but may affect the bottom left side of the heart (left ventricle) as well. ARVC can affect individuals differently from family to family and from individual to individual. The average age at diagnosis is 31 years, but children as young as 4 years old to as old as 64 years old have been found to have ARVC. If diagnosed early and treated aggressively, people with this condition often do quite well.

When someone has been diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC), additional family members are also at risk to inherit the disorder. A genetic counselor can help family members understand their individual risk to have ARVC by working with the family to draw the family history and point out those at risk.

Genetic testing is recommended for family members of individuals with a known gene change or variant linked to ARVC. Family members who have the family-specific gene mutation should have annual clinical screening of cardiac function and rhythm between ages ten and fifty years.

If genetic testing has not been conducted in the index case, or family member with ARVC, or testing did not identify a disease-causing variant in the affected family member, clinical screening for cardiac involvement is recommended for those without symptoms (asymptomatic) at-risk first-degree relatives. The recommended schedule is every 3-5 years after ten years of age.

If someone is concerned that they have ARVC or someone has been diagnosed in a family, it is important to discuss next steps for diagnosis with a cardiologist, medical geneticist, and/or genetic counselor familiar with ARVC. 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.

To establish the disease severity and individualized needs of the person diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC), baseline tests and repeat tests are recommended and include:

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 most common. This means an individual only needs one copy of the non-working AVRC-associated gene in order to express traits of this disorder. It also means that somebody with this disorder has a 50% chance of passing on this disorder to each of his or her children. If a parent or sibling has been diagnosed with arrhythmogenic right ventricular cardiomyopathy, then there is a 50% chance of also having this disorder.

ARVC can also be inherited in an autosomal recessive pattern. This 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. Parents that are both carriers have a 25% chance of having an affected child.

A genetic counselor or medical geneticist can assist families and individuals better understand the pattern in which ARVC is running in a specific family and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

In the United States, newborn screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) is not offered routinely. However, if there is a family history of ARVC with a known genetic change or mutation testing can be done in childhood or adulthood. Before testing a child for ARVC it is important to understand the future implications if they test positive for the genetic mutation.

To discuss the genetic testing options for newborns as well as the issues surrounding genetic testing in children, it is excellent idea to contact a genetic counselor to set up an appointment. A cardiac focused genetic counselor in your area or one available via telemedicine can be located using this link.

Most known gene changes, mutations, or variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) are related to the creation and function of desmosomes. Desmosomes support the role of heart muscle cells attaching to one another. This further provides strength to the heart muscle, as well as helping to cells talk to one another. Desmosomes that are impacted by an abnormal formation and/or function, can cause cells heart muscle to detach from one another and ultimately die. Myocardium death is increased when the heart muscle is under stress such as during exercise. This causes the myocardium cells surrounding the right ventricle to be damaged, detach, die, and be replaced by fat and scar tissue called fibrofatty tissue. As abnormal tissue continues to accumulate, the walls of the right side of the heart (ventricle) are prone to stretching and unable to pump blood throughout the body the way it should. Much like electrical wiring in your house can be disrupted, the electrical signals responsible for your heartbeat can be interrupted and can cause deadly arrhythmias and sudden cardiac death.

The Groningen University Department of Genetics in The Netherlands has an active database of variants in genes causing Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). This database can help healthcare providers better understand the health impact of gene mutations or variants in genes that may be related to ARVC.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is thought to be under diagnosed due to the challenge detecting this disorder in those individuals with mild symptoms or those who are asymptomatic. ARVC is found in individuals in all ethnic populations, races and countries; however, there appears to be a higher frequency detected in people from Venice, Italy and Padua, Italy, as well as the Greek Island of Naxos.

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.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is estimated to occur 1 in 1,000 to 1 in 5,000 people in the general population. ARVC is thought to account for 5% to 10% of sudden unexplained death in individuals less than 65 years of age and 20% of sudden cardiac death in people under 35 years of age. ARVC is thought to be under diagnosed due to the challenge detecting this disorder in those individuals with mild symptoms or those who are asymptomatic. ARVC is found in individuals in all ethnic populations, races and countries; however, there appears to be a higher frequency detected in people from Venice, Italy and Padua, Italy, as well as the Greek Island of Naxos.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic condition that runs in families. Most familial cases of ARVC are inherited in an autosomal dominant pattern manner. Autosomal dominant inheritance means one copy of a faulty or altered gene in each cell is enough to cause the ARVC. Each child born of a parent with autosomal dominant ARVC has a 50% chance of inheriting the disease-causing variant.

Less frequently, ARVC is inherited in autosomal recessive pattern of inheritance. In autosomal recessive inheritance both copies of a gene (one from each parent) in each cell must have mutations or variants before symptoms occur. The parents of an individual with an autosomal recessive condition are carriers in that each carry one copy of the disease-causing gene, but carriers aren’t typically affected and therefore do not show signs and symptoms of the ARVC.

A genetic counselor or medical geneticist can assist families and individuals better understand the pattern in which ARVC is running in a specific family and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is most commonly suspected after an individual presents with symptoms such as an enlarged heart on a chest X-ray, abnormal heart rhythms (arrhythmia), fainting during exercise, or a family member experiencing sudden death. If is suspected that a person has ARVC, they will be referred to a heart doctor (cardiologist) and for a series of tests. Testing for ARVC usually includes:

There are multiple support groups for people who have been diagnosed with arrhythmogenic right ventricular cardiomyopathy. Sometimes, you can ask your medical doctor and they can give you any resources they may have for local/online/international support groups such as Cardiomyopathy UK. Additionally, most diseases have Facebook support groups that can be easily found by searching "arrhythmogenic right ventricular cardiomyopathy" right in the Facebook search bar!

Individuals living with arrhythmogenic right ventricular cardiomyopathy (ARVC) should be seen by a cardiologist who is knowledgeable about the condition. Management should be individualized and based on the specific results of detailed clinical and genetic investigation. You can seek out a specialist at the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist or by asking your doctor for a referral to a heart and vascular institute.

You should also talk to your primary care doctor about your diagnosis. Your primary care doctor will help keep all of your doctor’s notes from each specialty so that appropriate referrals and updates can be made. Your primary care doctor will also be able to monitor your heart beat/rate when you go in for regular check-up visits. Additionally, if you give your primary care a copy of your genetic testing results, your doctor and your geneticist/genetic counselor can make medical recommendations based on your results. That way, all of your doctors can be coordinated, which will make treatments much more simple and organized.

Genetic testing for arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically performed on a blood sample, cheek swab, or saliva sample. The type of sample needed depends on the testing lab’s requirements and the exact test ordered for ARVC. To learn more about genetic testing, contact a genetic counselor familiar with ARVC. They can discuss testing options and the type of sample required for analysis. A cardiac focused genetic counselor in your area can be located using this link.

Individuals living with arrhythmogenic right ventricular cardiomyopathy (ARVC) should be monitored by a cardiologist who is knowledgeable about ARVC. Management should be individualized and based on the specific results of detailed clinical and genetic investigation. You can seek out a specialist at the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist or by asking your doctor for a referral to a heart and vascular institute.

You should also see a geneticist/genetic counselor to have genetic testing in order to try to find the genetic cause of ARVC in you and your family. Genetic counselors can be found by visiting this link.

A known gene change or pathogenic variant is found in about 50% of individuals with a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) who have genetic testing. Accordingly, many people with ARVC have the condition without having a gene mutation identified in any of the known associated genes. As more information is learned about the gene changes that cause ARVC, additional testing in the future will uncover additional genes associated with the condition.

A genetic counselor or medical geneticist can assist families and individuals better understand genes involved in ARVC, the pattern in which ARVC is running in a specific family, and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

There are various ways in which smoking can affect the heart of people living with arrhythmogenic right ventricular cardiomyopathy.

If you have arrhythmogenic right ventricular cardiomyopathy (ARVC), alcohol can negatively impact your heart by raising your heart rate and causing arrhythmias (abnormal heart rhythms). Alcohol can also increase your blood pressure. Alcohol can also cause damage heart muscle damage. For someone with arrhythmogenic right ventricular cardiomyopathy, alcohol can add to this strain of a heart already under pressure. For these reasons, talk to your doctor about the use of alcohol.

Talk to your doctor if the standard guidelines for alcohol consumption is right for your to help reduce the workload on your heart. Don’t be afraid to have a conversation with your heart doctor.

Because arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with sudden cardiac death as a possible symptom, you can die from ARVC. This symptom is not found in everybody who has been diagnosed, but it is a possibility. If you have been diagnosed, following up with and taking the medical recommendations made by your cardiologist are imperative.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic condition that runs in families. Although other heart condition may resemble ARVC, there are not any known non-genetic forms of ARVC. Having said this, there are individuals with ARVC who do not yet have a detected gene change. This is because science has not yet found all of the genes associated with ARVC. In these cases, it would still be genetic, but the exact variant would be unknown.

A genetic counselor or medical geneticist can assist families and individuals better understand genes involved in ARVC, the pattern in which ARVC is running in a specific family, and who may benefit from closer monitoring and genetic testing. A cardiac focused genetic counselor in your area can be located using this link.

Case reports describe successful outcomes in women with arrhythmogenic right ventricular cardiomyopathy (ARVC) who are pregnant and give birth. As specific guidelines for ARVC in pregnancy have not been developed, a multidisciplinary team to help monitor your condition should be put in place.

Treatments for arrhythmogenic right ventricular cardiomyopathy (ARVC) designed to prevent complications like cardiac arrest and sudden death include medications, lifestyle modifications, and implanted devices. Lifestyle modifications such as eating a healthy diet, maintaining a healthy weight, avoiding strenuous physical activity, and quitting smoking may be recommended to reduce the risk of arrhythmias. Prescription medications may be used to reduce blood pressure, stabilize heart rhythm, and decrease the amount of work the heart does on a daily basis. Implanted devices like implantable cardioverter defibrillators (ICD) or pacemakers may be used in individuals with ARVC to control abnormal heart rhythms (arrhythmias), identify any life-threatening arrhythmias, and deliver an electrical shock to ‘reset’ the heart’s rhythm as needed. Heart transplantation may be considered when ARVC has progressed to right and/or biventricular heart failure.

The creation of an individualized monitoring and treatment plan for a person with ARVC is most often designed by a cardiologist and/or electrophysiologist familiar with the progression of the condition. You can seek out a specialist at the Heart Rhythm Society’s "Find a Specialist page at https://www.hrsonline.org/find-a-specialist or by asking your doctor for a referral to a heart and vascular institute.

The British Heart Foundation also has an excellent brochure that describes treatments for ARVC called "Inherited heart conditions: Arrhythmogenic right ventricular cardiomyopathy". https://www.cardiomyopathy.org/downloads/information-section/bhf-booklets/arrhythmogenic-right-ventricular-cardiomyopathy.pdf.

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