Have you ever heard of a young, healthy, athletic person suddenly dying of a heart attack? It's really sad. Most of the time, we think of heart disease as something that happens with age. But sometimes, the cause of these unimaginable events is a very rare condition that we don't know about. Today, we're going to talk about one such heart condition that can affect young people in particular. This is ARVC.
What exactly is ARVC?
Simply put, ARVC is a rare heart disease that is genetically inherited , meaning it can be passed down through generations. What happens is that the muscles in our heart become damaged.
Think of our heart as a powerful pump made up of four chambers. This is what pumps blood throughout the body. Of these four chambers, the one on the lower right side is called the Right Ventricle. In ARVC, the healthy heart muscle cells in this right ventricle die and are replaced by fat and fibrous tissue (scar tissue) .
It's like a brick falling out of a good wall and the gaps filling up with mud. What happens? The wall of that heart chamber becomes thin, weak, and stretched. Then it can't contract properly and pump blood. This can cause things like shortness of breath and fainting.
What's even more dangerous is that the newly formed fat and scar tissue interferes with the electrical signals in the heart. This causes the heart to beat irregularly. We call this arrhythmia . This is the most dangerous condition in this disease. Because it can cause sudden cardiac arrest and even death.
This disease is also called ARVC, Arrhythmogenic Right Ventricular Dysplasia (ARVD). Sometimes it is also called Arrhythmogenic Cardiomyopathy (ACM) because it also affects the left ventricle.
What are the symptoms of this condition?
One problem with this disease is that it can be asymptomatic in the early stages. Symptoms often begin to appear before the age of 40, sometimes even in young adulthood.
The scariest thing is that for some people, the first and only symptom that lets them know they have this disease is sudden cardiac death.
Therefore, it is very important to be aware of the following symptoms.
| Symptom | A simple explanation |
|---|---|
| Heartbeat irregularities (Arrhythmias) | Abnormal changes in the heart rate. It can feel like a fluttering or squeezing sensation in the chest. Especially in conditions like (Atrial Fibrillation) . |
| Dizziness or fainting | It's like losing consciousness because the brain doesn't get enough blood. |
| Fatigue | Constantly feeling extremely tired because the body is not pumping blood properly. |
| Chest pain | Chest pain due to pressure on the heart. |
| Difficulty breathing | Shortness of breath caused by insufficient blood supply to the lungs. |
| Body swelling | Swelling in the legs, ankles, feet, or abdomen. |
| Heart Failure | Over time, the heart's pumping ability becomes almost completely weakened. |
Causes and inheritance of ARVC
Most often, ARVC is caused by a genetic variant . This is a small error in the blueprint, or genes, that make up our body's cells. This condition occurs when there are errors in genes that affect proteins that help keep heart muscle cells connected to each other.
When this connection weakens, heart muscle cells begin to separate from each other and die. This can happen especially during times of stress on the heart, such as during exercise.
About half of ARVC patients have a family history of the condition. This means there is a genetic history .
Therefore, if someone in your family has been diagnosed with ARVC, it is very important that that person's close relatives (parents, siblings, children, grandchildren, uncles, aunts, nephews, nieces) undergo a medical examination. Even if there are no symptoms, even those who are young should see a doctor and talk about this.
There are two main ways ARVC can be transmitted through generations:
- Autosomal Dominant: This is the most common type. This means that one of the parents has the gene mutation. Then their child has a 50% chance of inheriting the disease. However, the symptoms and age of onset of the disease can vary among family members.
- Autosomal Recessive: This is a bit rarer. Here, both parents have the gene mutation, but they don't have symptoms. Their child has a 25% chance of developing the disease. One specific condition related to this is Naxos disease , which can cause thickening of the skin on the palms and soles of the feet and a thick, woolly hair growth.
How to diagnose the disease?
A doctor can diagnose ARVC based on your symptoms, family history, and a few medical tests. There are several specific diagnostic criteria for ARVC. Doctors look at how many of these criteria you meet.
The main points that doctors pay attention to:
- To check for abnormal right ventricular function ( Echocardiogram or MRI tests are used for this).
- To see if there is any fat or scar tissue deposited in the heart muscle (an MRI is very important for this).
- To check for abnormalities on an ECG test ( Electrocardiogram - ECG/EKG ).
- Heart rhythm irregularities, especially during exercise.
- Whether anyone in the family has ARVC.
Based on these factors, the doctor will decide whether you "definitely" have the disease, "probably" have it, or "possibly" have it. They may also refer you for genetic testing if necessary.
Other tests used:
- Cardiac Computed Tomography (CT ) scan of the heart
- ECG test during exercise ( Stress Test )
- Studying the electrical activity of the heart ( Electrophysiology Testing )
- Taking a small piece of heart muscle for examination ( Biopsy )
What are the treatments for ARVC?
Unfortunately, there is no cure for ARVC. However, there are many effective treatments that can help you control your symptoms, prevent dangerous complications, and live a normal life. Your doctor's main goal is to manage the heart rhythm and heart conditions.
| Treatment method | What happens? |
|---|---|
| Medicines | Antiarrhythmic drugs, beta-blockers , and anticoagulants are given to prevent heart rhythm irregularities. |
| Catheter Ablation | If you have irregular heartbeats that cannot be controlled with medication, a procedure that burns the areas of the heart where abnormal electrical signals are generated. |
| ICD device (Implantable Cardioverter-Defibrillator) | This is one of the most important treatments. For people at high risk of dying from a sudden cardiac arrest, a small device is implanted under the skin of the chest. When a dangerous heart rhythm disorder occurs, this device delivers an electric shock to restore the heart to normal. |
| Heart Transplant | It is considered a last resort if all other treatments fail, but most people with ARVC do not need to go this far. |
Things to consider when living with ARVC
Once you are diagnosed with ARVC, you will need to make some changes to your lifestyle. These things can help reduce the strain on your heart.
- Limit exercise: ARVC can be made worse by exercise. Therefore, you may need to avoid competitive sports altogether. Be sure to talk to your doctor about the amount and type of exercise you can do each day.
- A healthy lifestyle: It is very important to limit alcohol consumption, avoid smoking, eat a nutritious diet, and limit caffeinated beverages (coffee, tea).
- Take your medications as prescribed: Never skip taking the medications prescribed by your doctor.
- Regular medical checkups: You will need to see your doctor for the rest of your life. If you have an ICD, you will need to have it checked regularly .
Finding out you have heart disease can be a very difficult thing to deal with, especially at a young age. If you're an athlete, it can be sad to have to give up that identity. But remember, your life is worth so much more. With the right treatment and lifestyle, you can live a good life.
Take-Home Message
- ARVC is a rare, hereditary condition that primarily affects the right side of the heart.
- The most dangerous thing about this disease is the risk of sudden cardiac arrest and death without any symptoms.
- If you experience symptoms such as chest tightness, dizziness, or difficulty breathing, see a doctor immediately.
- If someone in your family has ARVC, you should definitely get a medical checkup.
- Although the disease cannot be completely cured, it can be successfully controlled and lived well with medications, ICD devices, and lifestyle changes.
- It is very important for these patients to avoid strenuous, competitive exercise.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න