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Arrhythmogenic right ventricular dysplasia (or ARVD) is a disease of the heart muscle. In this disease, fatty fibrous tissue replaces normal heart muscle. This interrupts normal electrical signals in the heart and may cause irregular and potentially life-threatening heart rhythms. The heart also becomes weaker over time leading to heart failure.
ARVD typically begins in a small part of the right ventricle. Over time, the disease slowly affects more of the right ventricle. Sometimes the left ventricle is affected, too. This can lead to abnormal heart rhythms, and sometimes sudden death. Over time, the heart can’t pump as much blood forward as it normally would. Blood backs up in the circulatory system causing fluid to build up in the soft tissues or the lungs. This can lead to many symptoms such as swelling (edema) and shortness of breath.
ARVD is a fairly rare genetic disease. It usually starts between the ages of 10 and 50 years old. The severity of the disease varies a great deal between people.
ARVD results from a genetic defect. Genes are part of your DNA, the material passed down from parents to children. This genetic defect leads to the the replacement of normal heart tissue with fatty or fibrous tissue. How this happens is not yet clear.
Most cases of ARVD are autosomal dominant. This means you need an abnormal gene from only one of your parents to have it. Still, even if you have an abnormal gene, you might not develop any major symptoms from ARVD. Researchers are still trying to understand what other factors may increase disease severity.
Having a relative with ARVD puts you at risk for the disease. A parent with an abnormal gene has a 50% chance of giving that gene to his or her child. If someone in your family has ARVD, you may be able to use genetic testing to see whether you are at risk. Anyone with an abnormal gene should see a doctor for regular monitoring.
Symptoms of ARVD tend to get worse over time as the disease affects more of the heart. Some people with ARVD show no symptoms. And others may have more severe symptoms. These may include:
Heart palpitations and fainting are common early symptoms. Unfortunately, sudden death is also sometimes the first symptom of ARVD. The other symptoms tend to come on more gradually.
ARVD can be hard to diagnose. Family history and a clinical exam sometimes give some clues. A cardiologist usually needs multiple tests to come up with a diagnosis. These may include:
Genetic testing can confirm the diagnosis, but usually this is not necessary.
There are a variety of medicine to help treat ARVD. Some of these may only be needed when the disease is more severe. They include:
Catheter ablation is another option for certain people with abnormal heart rhythms and ARVD. This is a procedure used to treat certain types of abnormal heart rhythms. Ablation involves threading a catheter through a vein in the groin up to the heart. There, the doctor sends heat to destroy the cells that are starting abnormal heartbeats.
Many people with ARVD need an implantable cardioverter defibrillator (ICD). An ICD uses electrical shocks to treat life-threatening arrhythmias. This can help prevent sudden death. Your doctor will analyze your symptoms and test results to determine whether you need an ICD.
Rarely, you may need heart transplant if the damage to your heart has become severe.
Your doctor may give you additional instructions about how to manage your ARVD.
See a doctor right away if you have severe symptoms like chest pain, passing out, or severe shortness of breath. If your symptoms are gradually increasing, plan to see your doctor soon.
Arrhythmogenic right ventricular dysplasia is a genetic disease affecting the heart muscle, mainly in the right ventricle. It can cause abnormal heart rhythms, some of which can cause sudden death. It can also make the heart unable to pump enough blood.
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