Is the right side of your heart weak? Let's learn about this dangerous ARVD (Arrhythmogenic Right Ventricular Dysplasia)?

Oh, do you sometimes feel like your chest is suddenly pounding, you feel like you have trouble breathing, or you just feel like you're having a heart attack? You've probably heard that sometimes even a young, healthy athlete can suddenly have a heart attack. That's what we're going to talk about today, but it's a little less well-known, a little rare heart disease. This is called ``Arrhythmogenic Right Ventricular Dysplasia``, or ARVD for short.

What is ARVD (Arrhythmogenic Right Ventricular Dysplasia)? Let's understand it very simply!

Simply put, ARVD is a disease that affects the heart muscle, a type of `cardiomyopathy`. Our heart has four chambers. What happens in this is that the muscle in the lower chamber on the right side of your heart, the `right ventricle`, grows instead of fat and fibrous tissue. Think of it as if healthy muscle has been eroded away and replaced with something like fat.

What happens when this happens? That right ventricle gradually stretches, becomes thinner, and is unable to contract properly. That means its ability to pump blood to the heart weakens.

Most importantly, the newly formed fatty or fibrous tissue interferes with the heart's electrical signals. That's why many people with ARVD develop irregular heartbeats (arrhythmias). This can be very dangerous, as it increases the risk of sudden cardiac arrest or death.

This ARVD is also called `Arrhythmogenic Right Ventricular Cardiomyopathy` (ARVC). Sometimes it can also affect the left side, so it is also called `Arrhythmogenic Cardiomyopathy` (ACM).

What are the stages of ARVD?

If you have ARVD, it can go through several stages over time.

1. Concealed stage: During this stage, you may not have any symptoms. However, you may experience irregular heartbeats when you exercise. Surprisingly, some tests done during this stage may show that nothing is wrong.

2. Electrical stage: In this stage, you are more likely to develop ventricular arrhythmias. You are also at higher risk of sudden cardiac death. An ECG can detect these heart rhythm problems.

3. Structural stage: In this stage, the risk of abnormal heart rhythms (ventricular rhythms) and sudden cardiac death is even higher. Imaging tests, such as scans, can clearly show changes in the structure of your heart.

Who is most affected by this ARVD?

Doctors see this condition most often in young people. That is, in teenagers or young adults. ARVD has also been identified as a cause of sudden cardiac death in some young athletes. Some studies suggest that this condition is slightly more common in men .

In terms of how common it is, ARVD is a relatively rare disease. It is usually reported to affect one in 1,000 or one in 5,000 people. It can occur without anyone in the family having it, but it often runs in families.

What are the symptoms of ARVC? Let's be aware!

You may not have any symptoms of ARVD in the early stages, but there is a risk of sudden cardiac death.

The main symptoms that can be seen are:

• Ventricular arrhythmias: These can be very dangerous. In about half of people with these arrhythmias, the outcome can be fatal or near-fatal. The most common rhythm is ventricular tachycardia, which occurs in 77% of people with the condition.
• Supraventricular arrhythmias: The most common is a condition called atrial fibrillation.
• Heart palpitations: This can feel like something is pounding inside your chest. This is caused by an abnormal heartbeat.
• Dizziness, lightheadedness or fainting: This is also caused by an irregular heartbeat.
• Chest pain.
• Sudden cardiac death: This can sometimes be the first sign of ARVD.
• Shortness of breath.
• Swelling of the legs, ankles, feet, or abdomen.
• Heart failure.

These symptoms usually begin between the ages of 20 and 50. Doctors usually diagnose ARVD at a young age (often before the age of 40).

What are the causes of ARVD?

About 60% of people with ARVD have a genetic mutation. Researchers have identified at least 13 genes that cause the disease.

These abnormal genes damage the proteins that help heart muscle cells connect and communicate with each other. This can cause heart muscle cells in the right ventricle to separate and die. This can be especially common during times of stress or exertion.

At least 30% to 50% of ARVD patients have a family history. Therefore, it is important to have first and second-degree relatives (parents, siblings, children, grandchildren, uncles, aunts, nephews, nieces) of a person with ARVD examined by a doctor. Even if there are no symptoms, young relatives should seek medical advice.

Researchers have found two patterns of inheritance in ARVDs:

1. `Autosomal dominant`: One parent has the gene mutation. In such families, children have a 50% chance of inheriting the disease. However, the symptoms and age of onset of the disease can vary between family members. ARVD is more common in some geographical areas, such as Italy.

2. `Autosomal recessive` (not very common): Both parents have the gene mutation, but they do not show symptoms. `Naxos disease` is an example of this. It causes thickening of the outer layer of skin (`hyperkeratosis`) and thick, "wool-like" hair (`wool-like hair`) on the palms and soles.

ARVD can also be caused by other reasons:

• Congenital abnormalities of the right ventricle.
• Viral or inflammatory `myocarditis` (inflammation of the heart muscle).
• Reasons not yet discovered.

How is ARVD (Arrhythmogenic Right Ventricular Dysplasia) diagnosed?

Your doctor can diagnose ARVD based on your medical history, physical examination, and various tests.

Your doctor may diagnose ARVD if you have a combination of several of the following problems:

• Abnormal functioning of the right ventricle.
• The presence of fatty or fibro-fatty tissue in the heart muscle (`myocardium`) of the right ventricle.
• An abnormal `ECG/EKG` (Electrocardiogram) report.
• Heart rhythm irregularities (arrhythmias): For example, supraventricular tachycardia, ventricular tachycardia, or ventricular fibrillation, especially during exercise.
• A family history of ARVD.

Depending on how many of these factors you have, your doctor may give you a diagnosis of "definite," "borderline," or "possible." In some cases, but not always, your doctor may also refer you for genetic testing .

What are the tests used to diagnose ARVD?

• Electrocardiogram (ECG/EKG): A test that looks at the electrical activity of the heart.
• Transthoracic echocardiogram: This is like an ultrasound of the heart. It can look at the heart's chambers, valves, and pumping ability.
• `Holter monitor`: This is like a small `ECG` machine that you wear for 24 to 48 hours. It records your heartbeat throughout the day.
• Right ventricular angiogram: This is rarely used.
• Electrophysiology testing: A special test to check for problems with the heart's electrical system.
• Cardiac magnetic resonance imaging (MRI): This can produce detailed images of the heart. This is very important in detecting things like fatty deposits in the right ventricle in ARVD.
• `Cardiac computed tomography (CT):` This is another method of obtaining images of the heart.
• `Biopsy` (taking a tissue sample): This is also done very rarely. A small piece of tissue is taken from the heart and examined.

What are the treatments for ARVD?

There is currently no cure for ARVD. However, your doctor will try to do the following:

• Control your heart rhythm irregularities (`ventricular arrhythmias`).
• Prevent blood clots.
• Manage your heart failure.

The treatments for ARVD are:

• Antiarrhythmic drugs: Prevent long-term irregular heartbeats and/or sudden death. This is the treatment most often used by doctors. You may be prescribed drugs such as sotalol or amiodarone.
• Blood pressure medications: Medications such as diuretics (which remove excess fluid from the body) or beta-blockers (which reduce the workload of the heart).
• Anticoagulant (blood thinner): Medicines like warfarin are given to prevent blood clotting.
• Radiofrequency catheter ablation: A treatment for frequent heart rhythm irregularities that are not controlled by medication. This involves destroying a small area of ​​the heart that is causing the irregular heartbeat.
• Implantable cardioverter-defibrillator (ICD): A small device that is implanted in the heart of people at risk of sudden death. If it detects a dangerous heart rhythm, it will detect it and deliver an electrical shock to the heart to correct it.
• Heart transplant: This is done when all other treatments have failed. Only a small percentage of people with this disease, about 2% to 4%, need a new heart.

Remember, you may need more than one treatment for this disease throughout your life.

Are there any complications or side effects of the treatment?

Yes, there are certain things to be careful about with some treatments.

• If you are taking warfarin, you will need to have regular blood tests . Your doctor will need to make sure you are getting the right dose. Your dose may be adjusted based on the test results.
• Although catheter ablation treatment is initially successful for many people, as the disease worsens over time, approximately 60% of people may experience a recurrence of their heart rhythm irregularities.
• The wires in the ICD device can move around or not work properly, so you need to keep checking them.

How do I take care of myself? What lifestyle changes are needed?

It is very important to make some changes in your lifestyle to ease your heart.

• Limit alcohol consumption.
• Stop using tobacco products completely.
• Eat a healthy diet (low fat, lots of fruits and vegetables)
• Limit foods and drinks containing caffeine (like coffee, tea, chocolate).
• Maintain a proper body weight.
• Limit strenuous physical activity.

Most importantly: Always check with your doctor before you start exercising. Competitive sports are not recommended. Low-intensity sports may be okay.

Communicate regularly with your doctor throughout your treatment. They will make sure you are getting the right dose of medication. Also, by going to regular follow-up appointments, you can catch any changes in your condition early.

Can the risk be reduced?

Yes, to some extent. If someone in your family has ARVD, getting screened as soon as possible is the best way to reduce your risk. Simple, painless tests can tell you if you are at risk for an abnormal heart rhythm. If you are, your doctor can help you develop a treatment plan that is right for you.

What is the life expectancy with ARVD?

Life expectancy for ARVD varies depending on when it is diagnosed. The best thing to do is to diagnose the disease as early as possible and get treatment to prevent the irregular heartbeat. This disease gets worse over time.

If ARVD is not treated, your right ventricle can fail. Then your left ventricle can fail too. This can lead to conditions like `heart failure` and `atrial fibrillation`. Researchers believe that the situation is worse if ARVD affects both ventricles.

But, with treatment, you can get the help you need to reduce the strain on your heart and prevent dangerous heart attacks. Some studies suggest that some people are diagnosed with the disease after the age of 65. It is also estimated that about one in five people with ARVC begin symptoms after the age of 50. Therefore, it is possible to live a long life with ARVC.

Nowadays, advanced imaging technologies such as CT and MRI allow for early diagnosis and treatment, so the long-term outlook for people with ARVD is good.

However, sudden death can occur in those who are not diagnosed or do not receive the necessary treatment. ARVD is said to be the cause of 11% of sudden cardiac deaths in people under the age of 35 and 22% of sudden cardiac deaths in athletes.

When should I see a doctor? When should I go to the emergency room?

If you have ARVD, you will need to continue to have medical check-ups throughout your life. Your doctor will need to check regularly to make sure you are receiving the right treatment. If you have an ICD, it will also need to be checked regularly .

What to do in an emergency?

If someone suddenly collapses and does not respond to your calls, immediately call 1990 (Sri Lanka's emergency ambulance service). Then, if possible, start CPR (cardiopulmonary resuscitation), or at least hands-only CPR.

If you are at risk of sudden cardiac arrest, it is a good idea to have those at home with you receive CPR training.

What questions should I ask my doctor?

• Can I exercise or participate in sports? If so, what kind of sports?
• What treatment is best for me?
• Do I need an ICD at this time?

Because ARVD can be difficult to diagnose before symptoms appear, it's important to know your family history. If you're at risk because of a family history of the disease, your doctor can test you.

Take-Home Message

Okay, so now you have a better understanding of what we talked about today, ARVD. Although it is rare, it can be a serious heart condition. It is often caused by genetic factors . Therefore, if someone in your family has this condition, it is very important to get others tested.

By diagnosing the disease as early as possible, getting the right treatment, and making the necessary lifestyle changes, you can live well with this disease. Stay in touch with your doctor and follow their advice. Also, making sure your loved ones are aware of `CPR` can help save your life in an emergency. Don't be afraid, awareness is the greatest strength!

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