What is Arrhythmogenic Right Ventricular Dysplasia (ARVD)?

Podcast Transcript

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Oussama Wazni, MD:

Hello, everyone, and welcome to another podcast from the EP (electrophysiology) section here at the Cleveland Clinic. I'm Oussama Wazni, I'm the section head, and today with me is Dr. Pasquale Santangeli. He's the director of our VT (ventricular tachycardia) Center. Today we have two topics for you. We're going to talk about something called ARVC or arrhythmogenic right ventricular cardiomyopathy. And then we're going to talk also about ventricular tachycardia and the difference between dilated cardiomyopathy and patients who have ischemic cardiomyopathy. So Pasquale, welcome and thank you for joining us today. So let's start with the ARVC. Could you give us an understanding or a definition what is ARVC, especially to our patients who will see this term in their charts? They'll look and see, "Well, I have ARVC. What the heck is ARVC?" Let us know.

Pasquale Santangeli, MD, PhD:

Thank you. So ARVC or arrhythmogenic cardiomyopathy, it's a disease of the heart muscle that has a genetic basis, is familial, and it's characterized by replacement of the heart muscle by fat tissue and by scar tissue. It's called arrhythmogenic because the process of electrical depolarization (electrical flow) through the heart is interrupted by the scar tissue and fat tissue, and it can create some short circuits, which can trigger very malignant arrhythmias, including ventricular tachycardia or even ventricular fibrillation. It can lead to sudden cardiac death. That's why it's so important to recognize.

Oussama Wazni, MD:

So what is the presentation? So how does a patient know that they have ARVC? Or when should a patient be concerned and consider ARVC? Or is this something that the doctor usually diagnoses in these patients?

Pasquale Santangeli, MD, PhD:

It does require some index of suspicion. Typically, the presentation is ventricular arrhythmias. It can range in between VT, which is ventricular tachycardia or even fibrillation in most extreme versions and forms of it, but also some patients just have PVCs, so isolated beats. And of course there are some features from the electrocardiogram that you'll be familiar with and also from imaging, which we do, including CT scan and MRIs and echocardiograms. And we use some criteria to diagnose. But of course, first of all, whenever there is a patient with very frequent arrhythmias, symptomatic ventricular arrhythmias, we need to make sure we rule out, especially if they come from the right ventricle, which is the right side of the heart essentially, we need to make sure that we rule out underlying arrhythmogenic cardiomyopathy.

Oussama Wazni, MD:

So let me try to just summarize so far. So the patients will basically present, or a patient will have palpitations, so a feeling that they're having extra beats, and then they'll go to the doctor, and the doctor may do an EKG, and on that EKG, they may find something called the PVC, which is basically an extra beat from the lower chamber.

Pasquale Santangeli, MD, PhD:

That's right.

Oussama Wazni, MD:

And then based on the EKG, then there'll be some suspicion that this may be ARVC. So that is really a diagnosis that the doctor will do, and then will refer to the specialist. Now, when they come to us, we will do that EKG, we'll look at it, we'll get an echo to look at the heart. We may need to do an MRI. And then finally, the diagnosis is basically a combination of all of these findings in addition to the symptoms of the patient. Is that correct?

Pasquale Santangeli, MD, PhD:

Absolutely. And really, this involves also collaboration with different sections from our perspective. We do collaborate with genetic counselors. We collaborate with the heart failure section to make sure that we don't treat only the arrhythmia aspect of it, and we really have a comprehensive care about ARVC.

Oussama Wazni, MD:

So now we made the diagnosis. Before we go into the management and the treatment, we started off by saying that this is familial, and so it's something that could be inherited. So who are the family members that we have to also screen for in this situation?

Pasquale Santangeli, MD, PhD:

Yeah, the immediate family members usually. And we have a collaboration with the children's hospital for people that are less than 18 years old of age for family screening. And we screen them typically with an EKG, electrocardiogram. Sometimes we do Holter monitors and sometimes imaging depending on what the index of suspicion is. And of course, now that we have genetic testing, if a patient presents with a clear mutation that causes the disease, then we can screen for the same mutation in their family members.

Oussama Wazni, MD:

All right. So now let's move on to the management. So what is the first thing or first step in the management? Once we identify that they have the disease and we made the diagnosis, what are the next steps?

Pasquale Santangeli, MD, PhD:

Yes, this is really important. Typically, we try to understand essentially what is the risk of sudden death for the individual patient, which sometimes is quite challenging, because especially for patients that never had an episode of sustained between prolonged arrhythmias, it becomes challenging to understand what the risk is. So we do a series of tests usually that involves imaging and very often involves taking them to the EP laboratory to understand whether there is anything that we can induce in terms of the arrhythmia. And also, we try to confirm if the scar that was localized on the MRI is really present and what the risk of that scar is. So we do some tests for that, and after that we have a good understanding of what the potential future risk will be.

Oussama Wazni, MD:

Okay. And if the risk is high, then we implant an ICD, correct?

Pasquale Santangeli, MD, PhD:

Yeah.

Oussama Wazni, MD:

So most of the patients who have an established diagnosis of ARVC will end up with a defibrillator to prevent sudden cardiac death. Now, we've been faced with many of our patients who get the defibrillator, but then they have a ventricular tachycardia or a fast heart rhythm that can be dangerous. And then the device kicks in and they receive a shock. So now they're getting shocks, recurrent shocks. What would you do with those patients?

Pasquale Santangeli, MD, PhD:

Yeah, that's a great question. First of all, we need to really make sure the device was programmed in such a way that the shock was really, first of all, necessary. But having said that, after you have a ventricular tachycardia, we have very good methods and techniques to essentially prevent it in the future. And of course, typically the strategies and treatment drugs, so medications that really don't work that great for this condition, to be honest, it's been studied in different centers, but here we have a special expertise in catheter ablation of ventricular tachycardia and arrhythmias in general.

And in particular for ARVC and other diseases similar to ARVC, the region of interest is really on the outside surface of the heart, which is the most challenging one for most electrophysiologists. Here we do it almost on a daily basis, this type of procedure. So for us, it's almost routine, but really, if you want to address this problem from the source and to be very successful, you need to have a comprehensive ablation procedure, which includes ablation on the inside surface that is called endocardial, as well as on the outside surface, which is called epicardial ablation. And these are very good long-term results. We published actually years ago, about six year follow-up for most ARVC patients, had no VT, 75 percent of cases on no medications essentially, just low dose beta blockers, which is really almost nothing. So the results are very good as long as it's done comprehensively in a center like ours.

Oussama Wazni, MD:

Yeah. And we've had a lot of patients, once we do their ablation, they basically just stay on a beta blocker, which is really a low dose medication and medication with very mild side effects, if any. And the outcomes have been great. But it's important to stress that the patients need a comprehensive ablation, which means we have to ablate from inside the heart and outside the heart. The way we get to the inside of the heart is through veins and arteries if needed. And from the outside of the heart, we have to go under the breast bone into what we call the epicardial space, meaning just under the envelope that covers the sac that covers the heart. And we have a great expertise here. We do it on a weekly basis, if not daily basis. And our success rates have been great with very low complication rates.

Pasquale Santangeli, MD, PhD:

Absolutely.

Oussama Wazni, MD:

All right, so that's I think everything we have on ARVC. To summarize, patients will come in with palpitations, they'll get some monitoring, find extra beats from the lower chamber. Something has to point us in the direction of ARVC, usually that's an abnormal EKG. Then the workup will include an echo. And most of the time we get an MRI, then genetic testing to confirm. If patients continue to have problems then, despite medications, then we would perform an ablation that will entail endocardial from the inside and epicardial from the outside of the heart. And most of these patients will end up also needing a defibrillator to protect them from events in the future. Thank you very much for your attention and we'll see you for the next podcast. Thank you.

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