Arrhythmogenic right ventricular cardiomyopathy (ARVC), which is also known as Arrhythmogenic right ventricular dysplasia (ARVD), is a type of non-ischemic cardiomyopathy. Cardiomyopathy is a class of diseases, wherein the heart muscles do not function properly. ARVC is a type of cardiomyopathy, which may be hereditary. In this condition, the person experiences an abnormal increase in the heartbeat.

Causes
In the human body, the heart performs the vital function of pumping the blood. This is performed in a cycle. This involves four chambers of the heart, i.e., the left atrium, right atrium, left ventricle, and right ventricle. The function of the right ventricle is to pump blood into the lungs. In the lungs, the oxygen is absorbed in the blood, and the blood is then accumulated in the left ventricle, through the left atrium. This oxygenated blood is then supplied to all the organs of the body. However, when the heart is under stress, the cells of the myocardium (muscular wall of the heart or the muscle tissue) detach from one another and die. This primarily affects the muscle tissues surrounding the right ventricle, wherein the damaged muscle tissue is replaced by the fat and scar tissue. Due to this replacement, the right ventricle is unable to pump blood to the lungs in a normal pattern, which causes it to inflate. This further leads to irregular heartbeats, i.e., arrhythmia.

ARVC is mostly inherited in an autosomal dominant pattern. In the autosomal dominant inheritance, a person inherits a faulty gene from one parent, while in the autosomal recessive inheritance, a faulty gene is inherited from both the parents. In the former, there are 50% chances of the offspring being affected by the disease, whereas in case of the latter, inheritance of ARVC is rarely found. The genes that cause ARVC are yet to be discovered.

Symptoms

ARVC does not reflect any early symptoms, which is why it might not be diagnosed until the person is affected by a heart problem. The symptoms are rarely observed in childhood. In most cases, the symptoms appear between the age of 30 - 40. The symptoms may vary in each case.
  • Arrhythmia
  • Fatigue
  • Palpitation
  • Heart failure
Diagnosis

It becomes difficult to examine this condition in the early stages, as the gene that causes ARVC is yet to be discovered. In the first stage of the disease, the physician studies the medical and family history of the patient. Since ARVC can be inherited, the doctors focus on family history. The following tests need to be performed in order to examine this condition:

Magnetic Resonance Imaging (MRI): It reflects the cross-section of the heart. Since it provides restricted information about the fat in the ventricle, it does not help in the complete diagnosis of ARVC.
Electrocardiogram: It helps in confirmation of arrhythmia.
Echocardiogram: Sound waves are used to create an image of the heart. The image should focus more on the right ventricle.

Radionuclide angiography, MUGA (Multi-gated acquisition) scan, and Electrophysiology are some other tests performed to examine this condition. Diagnosis of ARVC is not very easy, however, it could be confirmed in case of a damaged right ventricle, a family history of ARVC, and presence of fat in the right ventricle.

Treatment
This condition cannot be cured; however, the symptoms can be alleviated with proper treatment. The treatment focuses on arrhythmia and avoiding heart failure/sudden death. The treatment helps reduce the risk of death. Antiarrhythmics are considered best for treating arrhythmia. ICD (Implantable cardioverter-defibrillators) are implanted in patients affected by severe ARVC. This helps regulate the abnormal heartbeat. Radiofrequency ablation therapy is also used with other therapies to destroy the fat cells in the ventricle.

ARVC may cause sudden or unexplained death. If the gene responsible for ARVC is discovered, then gene therapy may prove useful to treat ARVC.

Disclaimer: This article is for informative purposes only and does not in any way attempt to replace the advice offered by an expert on the subject.