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Arrhythmogenic Right Ventricular Cardiomyopathy

Last updated May 2, 2018

Approved by: Maulik P. Purohit MD MPH

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare, primary, inherited disorder of the heart, characterized by the disintegration of the myocardium (heart muscle).


What are the other Names for this Condition? (Also known as/Synonyms)

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
  • Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  • ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy)

What is Arrhythmogenic Right Ventricular Cardiomyopathy? (Definition/Background Information)

  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare, primary, inherited disorder of the heart, characterized by the disintegration of the myocardium (heart muscle). Since ARVC is inherited, a family history of the condition is a major risk factor for being diagnosed with it
  • ARVC accounts for about 20% of sudden cardiac deaths in individuals under 35 years of age. This genetic disorder affects men more than women, and is extremely uncommon in children below age 10
  • Mutations in genes involved in the structure and function of desmosomes are known to cause Arrhythmogenic Right Ventricular Cardiomyopathy. Desmosomes are the junctions between cells that facilitate cell-cell adhesion
  • Abnormal desmosomes cause the muscle cells to separate and scar tissue (containing fibrous and fatty tissue) to form. This compromises the pumping of blood, particularly when an individual is engaged in physical activity
  • At least 5 different gene mutations are known to cause abnormal desmosome functioning. Most Arrhythmogenic Right Ventricular Cardiomyopathy cases occur in an autosomal dominant pattern
  • In rare cases, gene mutations causing ARVC can also be inherited in an autosomal recessive manner. Such cases are known to arise from “cardio-cutaneous” syndromes (such as Naxos disease, Carvajal syndrome, etc.)
  • The signs and symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy may include shortness of breath during a physical activity or while sleeping, arrhythmia, low blood pressure, and fluid retention in organs and tissues
  • The diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy involves a thorough physical examination, symptom assessment, evaluation of family medical history, echocardiography (ECG), electrocardiography (EKG), stress test, imaging studies, and right ventricular angiogram. If required, a biopsy of the heart muscle may be ordered
  • Some potential complications of Arrhythmogenic Right Ventricular Cardiomyopathy include aberrant heartbeats (arrhythmia), sudden cardiac arrest, development of blood clot, stroke, and fluid build-up in tissues and organs
  • Depending on the severity of the condition, Arrhythmogenic Right Ventricular Cardiomyopathy may be treated using medications, non-surgical procedures, and surgical implants. Heart transplantation may be recommended in some serious cases
  • Since the condition is inherited, it is currently not possible to prevent it from taking place. However, individuals with a family history of ARVC may benefit from genetic testing and counseling before planning for a baby
  • The prognosis for Arrhythmogenic Right Ventricular Cardiomyopathy is favorable, if the condition is diagnosed early and treated promptly. The presence of severe complications is known to adversely affect outcomes

Who gets Arrhythmogenic Right Ventricular Cardiomyopathy? (Age and Sex Distribution)

  • Arrhythmogenic Right Ventricular Cardiomyopathy is a genetic disorder occurring at a frequency between 1:2500 to 1:5000
  • The age of ARVC-onset can vary, although typically, it affects adults in their 30s and 40s. Children under 10 are rarely affected by this condition
  • Both genders are affected, but males are 3-times more vulnerable to the condition than females
  • Individuals of Italian or Greek origin are reported to be more susceptible to this disorder than individuals belonging to other racial or ethnic group
  • The disease occurs at a frequency of between 1:2500-1:5000. ARVC is known to occur three times more commonly in men than women, and in 

What are the Risk Factors for Arrhythmogenic Right Ventricular Cardiomyopathy? (Predisposing Factors)

  • Since Arrhythmogenic Right Ventricular Cardiomyopathy is a genetic disorder, having a family history of the disorder is a major risk factor for being diagnosed with ARVC
  • Individuals of Italian or Greek ancestry have a higher risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Arrhythmogenic Right Ventricular Cardiomyopathy? (Etiology)

Arrhythmogenic Right Ventricular Cardiomyopathy is caused by mutations in at least 5 genes involved in the formation and function of desmosomes.

  • The 5 genes whose mutation(s) cause ARVC include:
    • DSP
    • JUP
    • PKP2
    • DSG2
    • And, DSC2
  • These genes code for desmoplakin, plakoglobin, plakophilin 2, desmoglein 2, and desmocollin 2 respectively
  • Of the 5 genes, PKP2 gene mutations are the most common

Desmosomes establish cell-cell connections in cardiac muscle and epithelial cells. They are highly adhesive and are resistant to mechanical pressure. Under normal circumstances, the desmosomal proteins ensure proper functioning of desmosomes.

  • When mutated, the structure of desmosomes disintegrates, particularly with physical exertion
  • The muscle cells of the heart separate and disintegrate, paving the way for scar tissue to form, composed mainly of fibrous and fat cells
  • The build-up of scar tissue leads to the walls of the right ventricle to stretch uncharacteristically, leading to:
    • Inefficient pumping of blood
    • Abnormal electrical conductivity in the heart
  • ARVC is inherited in an autosomal dominant fashion. In this type of inheritance, a single copy of a causative gene in every cell of an individual’s body is sufficient to cause disease. The affected individual inherits the condition from an affected parent

ARVC can also be inherited in an autosomal recessive manner, when associated with mutations causing cardio-cutaneous syndromes such as Naxos disease and Carvajal syndrome. In this type of inheritance, an individual must possess both copies of the causative gene in the defective form in every cell of his/her body for the disease to manifest itself. An affected individual inherits one defective copy from each parent. The parents are carriers of the disease and are not affected.

What are the Signs and Symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy?

The signs and symptoms of Arrhythmogenic Right Ventricular Cardiomyopathy include:

  • Shortness of breath during physical activity/exertion (exertional dyspnea)
  • Shortness of breath while lying down (orthopnea)
  • Fainting
  • Palpitations; a sensation of rapid, fluttering or pounding heartbeat
  • Heart murmurs, which is an unusual sound heard during heartbeat. This can be an extra beat or whooshing/swishing sound, and may be faint or loud
  • Swelling of ankles, legs, abdomen, or veins in the neck

How is Arrhythmogenic Right Ventricular Cardiomyopathy Diagnosed?

The diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy is performed based on the following tests and exams:

  • A thorough physical examination and an assessment of symptoms
  • Evaluation of personal and family medical history
  • Blood tests to check for biomarkers of cardiac disease
  • Chest X-ray to check for heart size, contour, and fluid build-up in lungs
  • Other imaging tests of the heart, using techniques such as computed topography (CT) scan and magnetic resonance imaging (MRI) scan
  • Electrocardiogram (EKG) to check the heart’s electrical activity
  • Echocardiography (ECG or echo) uses sound waves to create a moving picture of the heart. This helps to check the size, shape, and pumping function of the heart. A portable ECG, known as Holter monitor, may be used for checking the heart function over a 24 hour period
  • Stress test: This test places stress on the heart by making it work harder and beat faster to determine, if the cardiac muscles can cope with the increased workload
  • Cardiac catheterization: To check for pressure and blood flow in the heart’s chambers. It may be coupled to right ventricular angiography, by inserting a small, hollow tube into the pulmonary artery
  • Myocardial biopsy: A piece of the heart is removed and the cells are investigated for changes that may suggest damage to heart muscle. The biopsy can also provide information regarding ongoing myocardial infections, if any
  • In some cases, molecular testing for the condition may be helpful

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Arrhythmogenic Right Ventricular Cardiomyopathy?

The following complications may occur in individuals with Arrhythmogenic Right Ventricular Cardiomyopathy:

  • Involvement of the left ventricle such that there is abnormal functioning of this chamber
  • Heart valve regurgitation: It causes the heart to pump ineffectively, such that blood flows back into the heart
  • Arrhythmias: Abnormal heart rhythm, which can be triggered by physical exertion
  • Sudden cardiac arrest (which can be unexpected)
  • Embolism: Development of blood clots in the heart which may get into the bloodstream and obstruct blood supply to many important organs
  • Edema: Fluid buildup in the lungs, abdomen, legs, and feet; all consequences of ineffective heart pumping 
  • Stroke

How is Arrhythmogenic Right Ventricular Cardiomyopathy Treated?

The treatment for Arrhythmogenic Right Ventricular Cardiomyopathy may vary, depending on the severity of an individual’s condition. The treatment measures may include:

  • Anti-arrhythmia medications, such as beta blockers and calcium channel blockers: These medications generally form the first choice in treating cardiomyopathies, by regulating the heartbeats
  • Pain management with radiofrequency ablation (RFA): Radio waves are used to produce an electrical current. This current is directed toward a nerve tissue, whose temperature rises, and dulls the pain
  • Angiotensin II converting enzyme (ACE) inhibitors and angiotensin II receptor blockers, to lower blood pressure
  • Anti-coagulants or blood thinners, which prevent blood clot formation
  • Diuretics, to remove excess fluid and sodium
  • Implantable cardioverter defibrillator (ICD): It is a small device implanted in the chest or abdomen and connected to the heart via wires. The device helps control life-threatening arrhythmias that can lead to sudden cardiac arrest
  • Heart transplantation, when required

How can Arrhythmogenic Right Ventricular Cardiomyopathy be Prevented?

Arrhythmogenic Right Ventricular Cardiomyopathy is a genetic condition, and therefore, there are no guidelines or specific methods for preventing its occurrence.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Arrhythmogenic Right Ventricular Cardiomyopathy
  • Regular medical screening at periodic intervals with tests and physical examinations are strongly recommended

What is the Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy? (Outcomes/Resolutions)

  • The prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy is considered to be favorable, if it is diagnosed early and prompt and sustained treatment undertaken
  • However, if complications, such as left ventricular dysfunction or cardiac arrest occur, the long-term outcome may be poor. Also, the mortality rate from sudden cardiac deaths, is reported to be high

Additional and Relevant Useful Information for Arrhythmogenic Right Ventricular Cardiomyopathy:

Please visit our Heart & Vascular Health Center for more physician-approved health information:

http://www.dovemed.com/healthy-living/heart-center/

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 26, 2017
Last updated: May 2, 2018