What Is Arrhythmogenic Right Ventricular Cardiomyopathy?

Overview

Did you know that some individuals are more susceptible to developing heart diseases due to their genetics? One of the diseases is arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC, also known as arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic heart condition in which the cells of the heart muscle lose the ability to stick together properly, causing the walls of the heart to weaken.¹ Individuals with ARVC are predisposed to experience ventricular arrhythmias and sudden cardiac death.² The disease is called arrhythmogenic right ventricular cardiomyopathy because it was believed to only affect the right ventricle. However, some new studies have disclosed that this condition can affect either the left or right ventricles or both and is now called arrhythmogenic cardiomyopathy (ACM).  

Stages of ARVC

According to a study by investigators of the American Heart Association, there are three clinical phases of arrhythmogenic right ventricular cardiomyopathy.³

• The first one is the subclinical phase; in this phase, the symptoms are not visible or detectable by any test 
• The second one is where symptoms such as ventricular arrhythmias (abnormal heart rhythm), palpitations (a pounding feeling in the chest or neck), syncope (fainting), and structural changes start manifesting
• The third one is the advanced phase, where the patients may present with an enlargement of the heart (dilatation), severe structural progression, and systolic dysfunction (occurs when the effectivity of the heart’s ability to contract reduces) 

Causes of ARVC

Arrhythmogenic right ventricular cardiomyopathy occurs due to the presence of mutations in the genes that encode desmosomal proteins. These proteins are in charge of cell-to-cell adhesion (attachment of cells).⁵ The deficiency of these proteins is what causes the walls of the heart to weaken. ARVC is a genetic disease, which means that your parents or other family members must have a mutation in the genes that are responsible for this disease. There are cases where even if you inherited the genetic mutation, you may not develop the condition. However, you can still transmit it to future generations. There is still a lot of room for exploration around the causes of arrhythmogenic right ventricular cardiomyopathy. According to studies, researchers stated that apart from the genetic changes in patients, environmental factors can also influence the development of ARVC.⁴ 

Signs and symptoms of ARVC

The signs and symptoms of ARVC vary depending on the patient; some patients do not present any symptoms. According to the British Heart Foundation, some of the symptoms that you might experience are:

• Fainting
• Feeling discomfort or pain in the chest
• Ventricular arrhythmias
• Ventricular tachycardia 
• Palpitations
• Shortness of breath
• Inflammation in the tummy area, legs, or ankles

Diagnosis of ARVC

The diagnostic process for ARVC constitutes a combination of physical exams, family history, genetic information, and cardiac tests. These exams aim to determine if the heart is working properly or not; among the tests, we have:

• Echocardiogram: It is an ultrasound of the chest done to see if a problem exists within the structure of the heart or heart valves²
• Chest X-ray: It helps examine if the heart muscle looks bigger than it is supposed to be 
• Cardiac Magnetic Resonance Imaging (MRI): It helps analyse the walls and tissue of the heart to look for any signs of damage.¹ 
• Electrocardiogram (ECG): It is used to determine the rate, rhythm, and electrical activity of the heart.⁶
• Exercise test: It helps to evaluate how the heart works when performing any form of physical activity.⁸
• Genetic testing: This is done to examine the presence of the genetic mutations that are responsible for the disease.⁶ 

Management and treatment for ARVC

Unfortunately, arrhythmogenic right ventricular cardiomyopathy has no cure, but some treatments are used to manage the symptoms of the disease and prevent sudden cardiac death. Each treatment is adapted according to the specific symptoms of each patient:

• Medications like sotalol or amiodarone may be prescribed to reduce the severity and episodes of some of the symptoms, such as ventricular arrhythmias or ventricular tachycardia.⁷ Your healthcare provider might also prescribe diuretics to manage blood pressure or warfarin to manage blood clots etc 
• Catheter ablation is a short procedure in which the heart rhythm is put back to a normal pattern
• An implantable cardioverter defibrillator is a small device that can be placed in the chest’s skin near the collarbone to control the heart rhythm and treat abnormal rhythms⁶
• A pacemaker is a small device that can also be placed in the chest’s skin near the collarbone to help the heart’s rhythm to regulate

Risk factors of ARVC

• As explained earlier in the article, one of the risk factors for ARVC is the genetic predisposition of mutations in desmosomal proteins. The disease can take place at any age, but symptoms are more likely to develop during adolescence or early adulthood⁴ 
• Those assigned male at birth (AMABs) are usually more affected by ARVC than those assigned female at birth (AFABs)⁵ 
• ARVC is also more common among athletes or people who are used to intense and prolonged periods of physical activity⁸ 

Complications of ARVC

Patients with arrhythmogenic right ventricular cardiomyopathy can reduce their risk of developing complications by following the treatments mentioned previously. Some of the main complications that can take place are:

• Heart blockage: This takes place due to the interruption of the electrical messages to the heart, in some patients, it can make the heart beat too slow¹  
• Heart failure: This takes place when the heart cannot pump blood efficiently.¹   
• Sudden cardiac death: It happens when an individual dies due to a cardiac arrest caused by a dangerous abnormal heart rhythm.⁶ 

FAQs

How can I prevent ARVC?

Some recommendations made by the British Heart Foundation to prevent ARVC are: 

• Decrease caffeine intake 
• Avoid alcohol intake 
• Stop smoking 
• Have a healthy and balanced diet 

How common is ARVC?

Studies have shown that there is a prevalence of ARVC of 1 in every 2500 individuals to 1 in 5000 individuals.¹  

When should I see a doctor?

You should seek a doctor, preferably a cardiologist, if you experience any of the symptoms previously mentioned in the article, such as heart palpitations, shortness of breath, and abnormal heart rhythm. 

Summary

Arrhythmogenic right ventricular cardiomyopathy (ARVC) also known as arrhythmogenic right ventricular dysplasia (ARVD)  is a rare genetic heart condition in which the cells of the heart muscle lose the ability to stick together properly, causing the walls of the heart to weaken. It has three clinical phases. In the first phase, the symptoms are not visible or detectable by any test. The second phase is where symptoms manifest as ventricular arrhythmias, palpitations, syncope, and structural changes and the third phase is the advanced phase, where there is enlargement of the heart (dilatation), severe structural progression, and systolic dysfunction. You may or may not experience any symptoms. Some symptoms you might experience are fainting, feeling pain in the chest, ventricular arrhythmias, and shortness of breath. If you experience any of these symptoms, please visit your healthcare provider immediately for proper diagnosis and treatment. Your healthcare provider would confirm the diagnosis using a combination of physical exams, family history, genetic information, and cardiac tests and get you started with the appropriate treatment plan.