Welcome, everybody. I'm Luigi DiBiase, the chair of the Global Relations Committee and section head of electrophysiology at the Albert Einstein College of Medicine at Montefiore Health System in New York. And again, welcome to The Beat, which is an event that the Global Relations Committee and the Education Committee, Digital Committee put together in collaboration with the J-HRS, the Japanese HRS. Tonight, we're going to talk about sudden cardiac death, what you need to know. We have a great panel and two excellent moderators, Dr. Michael Laude and Christina Miyake, that I personally thank for putting together with the Japanese HRS this sequence of speakers. I also thank Dr. Nakagawa that also put a lot of effort in putting together a collaboration between the Haridom Society and the Japanese Haridom Society. While talking, you have probably seen our disclosure and the disclosure of all speakers. I'm done with my role here, and I pass the word to Dr. Michael Laude and Christina Miyake for the introduction. Thank you very much. Thank you, Dr. DiBiase. Hello and welcome everybody to episode seven of The Beat, brought to you by the Digital Education Committee of the Haridom Society. I'm Michael Laude, as you've heard of Emory University and the vice chair of the Digital Education Committee. Today's episode is sudden cardiac death, what you need to know. This is the second webinar in a series presented by the Haridom Society's Global Relations Committee, Dr. Luigi DiBiase being the chair of that. This series is presented in partnership with the Japanese Haridom Society. Today's webinar is presented on demand and free of charge for Haridom Society and Japanese Haridom Society members, so please enjoy this informative discussion with Dr. Tina Pham, Dr. Nakoda Sumitomo, Dr. Aya Miyazaki, Dr. Susan Etheridge, and moderator Dr. Christina Miyake. I will now introduce our speakers and co-moderators. You've heard from Dr. DiBiase. The co-moderator of this is Christina Miyake. Dr. Miyake is an associate professor and is the director of the cardiovascular genetics arrhythmia program at Texas Children's Hospital. She's also a member of the arrhythmia pacing EP service at Texas Children's Hospital, and she specializes in the care of pediatric and adult congenital patients with cardiac arrhythmia disorders. Dr. Miyake is also an associate professor in the Department of Molecular Physiology and Biophysics at Baylor College of Medicine and is actively involved in basic and translational research, with a particular focus on identifying the genetic and molecular basis of heritable arrhythmia disorders. Her long-term goal is to leverage her clinical, basic, and genetic expertise to advance treatment and improve the quality of care and outcomes among patients with an arrhythmia disorder. Our speaker tonight is Dr. Tina Pham. Dr. Pham is a member of the arrhythmia and pacing service at Texas Children's Hospital. She specializes in the management of cardiac arrhythmias and management of patients with pacemakers and implantable defibrillators. Dr. Pham also has a special interest in exercise physiology and utilizing cardiopulmonary exercise testing as a tool to assess patients' functional capacity. Her research interests include developing strategies to increase utilization of exercise stress testing in the congenital population and cardiac rehab. Dr. Pham strives to promote cardiac fitness to improve the quality of life of those restricted by underlying heart disease. Tonight, we have three wonderful panelists. The first is Susan Etheridge. Dr. Etheridge is director of the Pediatric Cardiology Fellowship and Residency Program at the University of Utah School of Medicine and Primary Children's Medical Center. Dr. Etheridge is a pediatric electrophysiologist who sees children and some adults with all forms of arrhythmic disorders having a special interest in long QT syndrome. Dr. Aya Miyazaki is in the Department of Pediatric Cardiology and the Department of Adult Congenital Heart Disease at Sairai Hamamatsu General Hospital. She's board certified in pediatric cardiology of the Japanese Society of Pediatric Cardiology and Cardiac Surgery. She also has board certifications in the Japanese Heart Rhythm Society and the Japanese Society of Electrocardiography. She's board certified in cardiology and a member of the Japanese Society for Adult Congenital Heart Disease. Finally, Dr. Naokata Sumitomo. Dr. Sumitomo graduated from Nihon University of Medicine in 1981. He studied abroad in Texas Children's from 89 to 92 and has been working at the Saitama Medical University and National Medical Center as a professor of pediatric cardiology since 2014. His expert field is arrhythmia in pediatric populations, congenital heart disease, and inherited arrhythmia. Wow, that was a mouthful. Let's get to the meat of this meeting and I'll turn it over to our moderators. All right, well I'd like to introduce Dr. Tina Pham and she's going to be presenting two different families today with heritable arrhythmia syndromes. Welcome, Tina. Thank you. Let me share my screen. Can you see my screen here? Yes. Well, thank you for the opportunity to present my cases. I have no disclosures. So we're going to present two cases today. And for both families, both have given us permission to use their clinical data and pictures. So first patient is patient JB. Patient is a 45-year-old female, previously healthy, who presents for evaluation of palpitations. Her palpitations are generally exertional, though it's sporadic and not reliably reproducible. Her ECG, as on the left, is normal. And her echocardiogram revealed structurally normal heart with normal function and no wall motion abnormalities. Her Holter demonstrates rare PVCs, as highlighted in red, 28 total over a 24-hour period. Now, this type of patient is the patient that presents all the time with sporadic symptoms and rare PVCs. So what sort of testing, additional testing, would you consider? And so because she had symptoms during exertion, we opted to perform an exercise stress test. So here's her stress test at baseline normal sinus rhythm. As the heart rate gets faster, here's 107, she has a ventricular couplet. Here on stage three, when the heart rate's 135, there is ventricular bigeminy that continues into exercise. And then at peak exercise, her heart rate's 171. The PVCs are likely persistent here, though with some fused complexes. In recovery, there's no ectophy, has the heart rate decreases to 112 and 79. So here we have this 45-year-old woman who's athletic, who's very athletic, who has occasional palpitations, no syncope, normal echocardiogram, and rare PVC sinus ulcer with ventricular bigeminy on an exercise test without BT. What would you like to do? Is there any other information or anything else you'd like to ask the family that could be helpful? So let's dive a little bit into this family history. And so highlighted in red is the patient with palpitations and the PVCs. There are multiple family members in her father and her sister with palpitations and low heart rates, but otherwise no family history of sudden death, cardiomyopathy, or syncope. No pacemakers, no defibrillators. Her youngest son was diagnosed with a seizure disorder at age 10. His first seizure occurred while he was jumping on a trampoline. He subsequently had another seizure later that year while he was on top of a diving board, and that resulted in a 10-foot fall where he had sustained head injuries. But he recovered fully and was discharged home, and he ultimately passed away after going into a seizure at home. And she also has a 14-year-old son who's also healthy. So what next? Would you do nothing for this patient? Would you offer a beta blocker, exercise restrict, or do further workup that may include an MRI or an EP study? And so this patient was offered a beta blocker without exercise restriction. Two years go by. Her only surviving son, who's now 16 years old, suffers cardiac arrest. He was rock climbing at a gym. When he reached the top, he rang the bell and subsequently went limp. But after being lowered, he immediately received CPR by bystanders. And on EMS arrival, he was found to be in ventricular fibrillation. He underwent defibrillation five times, received five doses of epinephrine, amiodarone, kaleidocaine, and he had brief return of spontaneous circulation, AROSC, though went back into ventricular arrhythmias. And he had a prolonged resuscitation and was actually pronounced dead and then spontaneously regained perfusing rhythm. So though we do not have any strips of his event, but shortly after resuscitation, he did have rare runs of what looks like polymorphic, maybe bidirectional VT on the left and then on the right, slow, non-sustained atrial tachycardia. His baseline ECG, echocardiogram, cardiac CT, and cardiac MRI are all normal. And so let's just take a pause right here and think about his differential diagnosis. The 16-year-old with abortive sudden death. Now, this differential diagnosis is long, but this list is by no means inclusive, but may include channelopathies such as long QT, buccata, CPVT, cardiomyopathies, anomalous coronary artery, myocarditis, areopathy, and idiopathic VT. A lot of these diagnoses were ruled out by the normal testing that I mentioned earlier. But because of his family history, that was pertinent for his younger brother who passed away with a seizure disorder with the onset of seizure that occurred during exertion. And also while on top of a high diving board, that made us think particularly of an adrenally mediated inherited arrhythmia, particularly CPVT. So we opted for genetic testing. So now I kind of want you to think what genetic testing would you send? A targeted panel or a whole exome sequencing? So because we suspected CPVT, we felt that it was critical to confirm or eliminate this as a diagnosis in a timely manner because the diagnosis would impact whether or not to implant an ICD. So our center, we can send critical testing and see if it would result in five to seven days by sending a critical trio West, and that was what was sent. And so the patient's genetic testing revealed a variant, an RYR2, that is not previously reported and is classified as likely pathogenic. This patient, as you see here, inherited the variant from his mother, who's heterozygous also for other variants. And we were able to send genetic testing on his deceased brother's extracted DNA, which also revealed the same variant. So because of this patient's presentation, family history and genetic finding, he did receive the diagnosis of CPVT and likely as well as his brother, who was previously diagnosed as having a seizure disorder. This patient went on to recover well. He's currently still diaplegic, but is making great progress in rehab. He was started on Natalaw and Flaconide. He underwent a lymph sympathetic, a sympathectomy while inpatient, and he is in consideration for ICD implantation. I wanted to spend a few minutes to review CPVT, the prevalence of which is unknown, but it's thought to be in about one in two cases. In about one in 20,000, it is predominantly autosomal dominant inheritance and it's associated with mutations in the genes RYR2 and CasQ2, which also can be inherited in autosomal recessive manner. The triggers is adrenaline release. So the most common presentation is syncope during exercise or emotional stress, such as fear and anxiety. The first presentation can also be death. Lethal ventricular arrhythmias are often polymorphic or bi-directional, which is thought to be pathognomonic for CPVT and atrial arrhythmias are also common. Sudden death is reported in as high as 50% by age 30 years. This is an exercise stress test, very typical of CPVT that is normal at baseline, but with increased heart rate and increased adrenaline, you start seeing PVCs, ventricular bigeminy, and then with continued exercise, bi-directional VT that sometimes clinches the diagnosis of CPVT. And then the ectopy quickly subsides in recovery. So in summary, CPVT is one of the most malignant inherited ventricular arrhythmias. It can often be misdiagnosed as seizures. Bi-directional VT is very characteristic of the diagnosis. The triggers is adrenaline release and the treatment includes beta blockers, Fluconide, avoiding adrenaline triggers, sympathectomy, plus or minus ICD, and restriction from competitive sports. So let's move on to case two. So here now you have a 16-year-old who already has a diagnosis of CPVT from an outside institution, but this patient was referred for a second opinion for sports clearance. Here's the patient. He was initially referred to cardiology for sports clearance for bradycardia. He's asymptomatic. This is his ECG, or sorry, his echo is normal. His ECG shows sinus bradycardia with nonspecific T wave changes. And then his halter circle here shows PVCs and bi-directional VT. And because of his bi-directional VT, a CPVT panel was sent, and this was positive for a pathogenic variant. He also underwent exercise testing at the outside hospital that also reveals bi-directional VT. And here we have a family history, which is very important here. So his mother, who's pictured in blue, was seen for a routine health exam at age 30. She's found to have an irregular rhythm on her physical exam and was sent to the local ER where her rhythm was consistent with recurrent ventricular tachycardia. She remained completely asymptomatic in the VT, but was airlifted to a tertiary center for further treatment. Her VT was not able to be treated, and she underwent a heart transplantation and ultimately died from complications from a heart transplant one year later. And so in this patient, who's healthy, asymptomatic, but with bi-directional VT, would you clear him for sports? So we did end up clearing him for sports, and so let's talk about why. This is his genetic report from the CPVT panel that was sent. This tested positive for a variant in KCNJ2, which is classified as pathogenic. Let's look at his genetic features. Here you see he has a little bit of mildly low-set ears and very mild malar hypoplasia. He also has very mild chlamydactyly of his left pinky. His toes are normal. And then also interestingly, look at his growth chart. He also has short stature. This is charting him up to age 17, where he remains well below the third percentile for height. We also looked again at his ECG and his Holter. And this is his ECG that shows a T-wave abnormality in enlarged U-waves and a QTC that measures prolonged. And this is his Holter on the left or on the bottom that reveals a high burden of ventricular ectopy. And looking at the dispersion of ventricular ectopy, it looks like he has more ectopy occurring at night between the hours of 1700 and 2100, and at night between the hours of 1700 and 2 a.m. And though classically a diagnosis of CPVT is thought to be adrenaline mediated, his Holter is not consistent with that. It shows that his ventricular arrhythmia appears all throughout the day and more predominantly during hours that's presumably associated with sleep. And so with his pertinent tests, including his ECG, his Holter findings, his physical exam features and genetic testing, this patient ended up receiving a different diagnosis. And that diagnosis is Anderson-Taylor syndrome or Long QT type 7. So a quick review on Anderson-Taylor. It is inherited in an autosomal dominant fashion. It is rare. The prevalence is about one in 1 million individuals. It's associated with a KCNJ2 mutation that encodes for the inward rectifier potassium channel. Patients are often dysmorphic. They have microanthia, microcephaly. They also have limb abnormalities such as clinodactyly and syndactyly, small hands and feet. And then their arrhythmia includes PBCs, also bidirectional VT. And previously this arrhythmia was thought to be rarely life-threatening. The new data has found that it might be a little bit more dangerous than we previously thought. And then another classic feature of Anderson-Taylor is that it's also associated with periodic paralysis without myotonia that's associated with hypokalemia. And this is treated with carbonic anhydrous inhibitors and potassium-sparing diuretics. Other differential diagnoses for bidirectional VT that we talked about includes CPVT, Anderson-Taylor syndrome, and then also digoxin toxicity. So the two cases that I present highlight the importance of some key data that can be used to distinguish CPVT from other inherited arrhythmias. And so those both cases of CPVT and Anderson-Taylor can present with bidirectional VT. The key here is the history and the diagnostic testing. So one patient had an arrest during a period of stress and anxiety, and the other patient was asymptomatic in his arrhythmia. The holders here are side-by-side holders of CPVT on the left and Anderson-Taylor on the right. Patient with CPVT had only 28 total PVCs all clustered in one hour, circled here when his average heart rate was the highest. And then the patient on the left or on the right with Anderson-Taylor had PVCs occurring all throughout the day and even more notably during sleeping hours. And so some takeaway points of sudden death in CPVT and inherited arrhythmias is the importance of the clinical history. If an event such as syncope occurs, what was the patient doing? Was it during exertion? And if it wasn't during exertion, was there an event that might have triggered emotional stress, such as an argument with a family member, fear of heights, going on a roller coaster, et cetera. And then also the pedigree and the family history is also incredibly important. If you diagnose an adult, think about the children, what workup should they get? Did they have any events? And then if you diagnose a child, it's important to make sure that cascade screening of family members is completed. And then also using key diagnostic tests can help you distinguish the diagnosis, whether that's a Holter, an echo, or a cardiac MRI. Thank you. Well, thank you so much, Tina. And I really wanna just highlight some of the information that you shared really brings to light the importance of families and even the rare diseases, how important it is to distinguish between these heritable arrhythmia syndromes. You have one family that was highly lethal. We're going to talk a little bit more about CPVT today. We have another family that has a very similar arrhythmia phenotype with bidirectional VT, but that is thought to be much less life-threatening than CPVT. I thought you did a great job, Tina, of highlighting the important points. What I want to do, more importantly, is really bring together some experts in the field of inherited arrhythmia disorders. I'd like to first open it up. Just to let you know, this webinar series, we hope to highlight more than just these diseases, but we're going to focus today on CPVT and Anderson-Taylor. My first question to the panel is, I want to start with just in general. When you have a patient that presents with a potential inherited arrhythmia syndrome, or for example, with some PVCs, whether they're symptomatic or asymptomatic, what's something that you do in your clinic to try to help distinguish some of these disorders? You can just give us a general comment to the learners, and then we'll go a little bit more into detail about these cases. Susan, you want to go ahead and tell us? I think you pointed it out beautifully. You need a several-generation pedigree. That isn't just asking the question, hey, has anybody died suddenly? But sometimes it's actually going through, are your parents alive, are your cousins alive, are your children alive, and then how they passed away, but also not forgetting things like drowning in somebody who shouldn't drown, and seizures, just as one of your cases pointed out. To me, that's the big weightlifting. I'm lucky I live in Utah. They have children young, so I'll often have a three-generation pedigree in the room with me, and that's very helpful. Just one comment, Susan, can you tell the readers or the learners why you ask about drowning? It's a terrible place to faint, the water. What might be a faint on the land ends up being a drowning, and it's exercise. You're swimming, and so you're exercising, and it's particularly problematic in Long QT syndrome and CPVT, and it's probably in Long QT and maybe even CPVT, the combination of that long short when you hold your breath and your heart rate slows down and then you breathe and your heart rate speeds up, so I think drowning is a really important feature. I totally agree, and I think one other point, if you are asking that question to families, has anyone in your family ever drowned? If they do say yes, I think the other question that I like to follow up with, could that person swim? Because sometimes it makes a difference if it's a two-year-old versus, for example, an 18-year-old who clearly was a good swimmer, so those are excellent points. How about Dr. Sumitomo, do you have any advice from us from your practice? For the diagnosis of CPVT, my experience, about 70 to 80 percent of patients have polymorphic or bidirectional PT or PBC during exercise, but about 20 to 30 percent of the patients develop only monomorphic PBC. In that case, if you suggested the CPVT patient, we implanted a loop recorder for the patient. I have two patients who developed DEF during exercise, but not during a treatment exercise test, so implanting a loop recorder may be good for the patient who is suspected of CPVT. That's a great point. I really appreciate that. All right. How about Dr. Miyazaki? Any advice for our learners? Sounds like everything has an all-righting number, but then Christina, your question is how to differentiate the benign PBC from the inherited arrhythmia from benign PBC, right? First of all, family history is very important. Second of all, the situation of the arrhythmia, if arrhythmia occurs during the exercise, that would be a worse sign. Then also the morphology of the PBC. Then I see that a uniform PBC and then no family history and then no arrhythmia during the exercise, maybe I feel that that would be a benign PBC. Dr. Miyazaki, I think that's a really good point, and I want to highlight that a little bit more. When a patient has an event of syncope or some event, really ask questions. Delve into it. Dr. Etheridge also mentioned it. For example, if I had one patient faint and she was in the bedroom, that was the initial explanation, but it actually turns out that there was a blackout and the lights had just gone out just prior to that. I had another patient who passed out at school who was sitting at the desk, but if you actually asked after multiple times of fainting what was going on at the time, it turns out that the girl that he liked kept walking into the room. You really need to delve into those details to really sometimes get at CPVT to really understand that there's some adrenergic stimulation going on. Don't forget, if you are evaluating asking history, really ask about those details. Fantastic. Let's go ahead and let's go back to this story. Can I have a question? Yes. First of all, congratulations. Tina, it was a great presentation and congratulations for this format that we discussed. It's probably the best because it helped us to think. The most difficult case that you presented, I think, is the first one, which looks easy at the beginning, but it's not. Let's take out the CPVT. This is a patient of 45 years old that comes with some minor palpitation. Every test is normal and has a 24 altar with rare PVC. We don't have anything else here, but first of all, you greatly already said, go back to school. Anamnesis and history of the family is extremely important. Our EP fellow tend to forget it. Our MP and our PA tend to forget it. Many do. Many others don't, but in that patient was the only caveat, the only extra information to start having a suspicion. In regards to the test, let's assume that the patient was not asked about the family. I mean, what could have been done differently before? Now we know it's CPVT, but I mean, I would say that an extended halt and monitoring, like a patch of seven days or 14 days, would be my next step because it's been proven that there is a circadian and there is a variability of frequency of the PVC that is missed by sensitivity and specificity with a 24-48 hour altar and you need at least a seven to 14 days altar to have better pictures. Now, this might not have been the case for this specific case, but I just wanted to open discussion before we go to further discussion on the next case about that sometime you need to do an extended monitoring to get more PVC or different morphology PVC or, you know, some VT. What do you guys think about that? So, I have a patient who ultimately did prove to have CPVT and she only had symptoms, never on the treadmill for us, but only when she was driving through a certain mountain canyon where she would faint and pull over or somebody would. So, we put a halter or a seven day. We made her safely as we could drive through that canyon and that's where we saw her bidirectional VT. I think trying to provoke, it's always really hard to do, but to say what are the situations that put you at risk and unfortunately in teenage boys, it's often the thing teenage boys do when they're by themselves and that's where I've had a bunch of issues also. So, I love the idea of extended monitoring. On the other hand, when you have a little bit more information like the second case, having an extended monitoring or a loop recorder as was mentioned before, it's a good thing to do, but sometimes as a few people in my group say, you know, you're gathering, you know, lawyer information for the event to happen, to be used against you. This is a joke, but sometimes we practice also defensive medicine. So, meaning if a patient with a syncope and a suspect of CPVT, putting a loop recorder may put you at risk of documenting that you should have done more than just a loop recorder. So, it looks a joke, but at the end, we also practice medicine and lawsuits are around the corner. So, we really need to be careful about that. I agree with everything. I think that, you know, the initial case, the mother is extremely difficult, but I don't know for those of you that are used to seeing CPVT, when you look at her pattern of her exercise stress test, aren't you, as you look through, does it make you think you're going to see, she does, I don't know, to me, she does seem to have some pattern. I don't know if it would have necessarily triggered my suspicion for her. However, I do think the family history, her son is the key at where he had his seizures. So, I think your point in absolutely, you know, the fellows or whoever, if you're taking, you don't think so much, don't forget to take that history and dive a little bit deeper, but I agree. Would you, so my question is, would you treat her? She's 45. She's completely asymptomatic, except she does have some dizziness when she exercises. You have not yet seen CPVT. Dr. Sumitomo, would you implant? Yeah, it's a very difficult question. Yeah, but I recommend her to take a beta-blocker, nadirol or flaconide, because in some patients might have a syncope after she diagnoses CPVT, but it is very hard to, I think if she accepted to take medication, I started her to first beta-blocker, but it is very hard. Another practical point is for those, for clinical, for more clinically less experience in, you know, suspecting or trying to do genetic testing of this type of disease. Any recommendation on, you know, which panel to request, which tests to be done, anything, you know, more practical that can be done, because, I mean, by practicing, sometimes we feel like we don't know what to order, how to order, and when to order it, so we need a guidance for the, for me, first of all, and for everybody that is, you know, probably listening to this. Does someone want to answer? That's a good question. How would you tell doctor, you know, to to send genetic testing? How would you advise him? That's a very, very difficult question. In some patients who have, who showed palpitation and untreatable tests, she had oligomorphic PBC, we might proceed to the catheter ablation for her, but she had a son who have a syncope, so she might, so after that, we proceeded to the genetic testing, but if she have no son, I don't proceed to get the genetic test for her, so it is very, very difficult, I think. Susan, do you have any other comments, too? I think this is a very difficult, do you have any? It is, it's a great question, and I would do genetic testing on her more for her children or her surviving child than for her own self, because if you do find a target, you need to check that target in the child. I'd start with a pan, with an arrhythmia panel that would include ryanidine, CasQ2, KCNJ2, but probably expand it to arrhythmogenic cardiomyopathy, you know, the desmoplacan, desmoglian mutations in her. Try to keep it as narrow. I don't know that I would go to the hypertrophic cardiomyopathy panels just yet. I mean, I think, and I agree with you, I think for me, it's, it's nail as much as you can the phenotype. You get yourself really down a rabbit hole if you start sending genetic testing that's broad, because inevitably in EP and arrhythmias, you're going to get a VUS, and of all the genes, ryanidine receptor, right, or titan, is one that you're likely to get a VUS, so you want to make sure, so I think if it means getting more information to make you feel convinced this patient doesn't have long QT syndrome, she doesn't have hypertrophic cardiomyopathy, but I repeat the exercise stress test, or I have the suspicion on the family history, then you can do genetic testing, but I'm going to leave it. How about Dr. Miyazaki, do you have any suggestions? Maybe if I were the first doctor to see that mother, I wouldn't perform the genetic test, maybe, but after we see the old history, we should do that, you know, that at the, in the, when she come to the clinic, but the decision should be so hard. This is very hard, and I think that I agree, everyone agrees, she's very, very difficult. And I think that you wouldn't go wrong with not sending genetic testing based on what she had necessarily. So let's go to Sammy, the son who had a cardiac arrest. So now we have this sequencing result. You know he's got a ryanodine receptor variant. He's had an aborted cardiac arrest. What is your management? This comes up a lot. This is a typical scenario for us. So what would you do? We'll start with Dr. Miyazaki. I would start with the flaconide and betabroker at first. And then I also perform the exercise stress test. And then I evaluate the efficacy of the medication. And then in that case, I would use the loop recorder also to see the arrhythmia during the daily life. And then still, still the patient has some kind of the VT or the lethal arrhythmia. Then I would think about the ICD implantation. But usually I don't. I don't use the ICD for CPVD patient. Anybody else? So this patient just arrested. He can't exercise for you. He needs to get discharged. Are you going to implant or not an ICD? So maybe anyone else? Maybe if you implant an ICD, would you implant a subcutaneous ICD or a percutaneous ICD? I wouldn't do an ICD right away. I would do a sympathetic denervation first. And hopefully that would get you some time and he would be able to exercise for you, or at least you could put a loop recorder in him and determine what in his world of adrenaline was causing arrhythmia. It is hard not to put an ICD on somebody who's had a cardiac arrest, but in CPVT, they are problematic. But I think it's one of the hardest things we're faced with as cardiologists, frankly. Do any of you let your CPVT patients exercise or do competitive sports? I do, once they've proven safe to me by exercising and wearing other sorts of monitoring and have an AED. Well, how about Dr. Sumitomo, do you let your Yeah, I don't like ICD for the CPVT patient. Twenty years ago, I implanted a CPVT patient or the patient for ICD, but there's lots of trouble after implanting ICD. So for more than 10 years, I don't implant ICD for the patient with CPVT. How about the patient that had syncope? In one of the slides, there was like VF in one of the patients. So was PVC going to VF? How are we going to avoid that? If you mean under the medication? In that case, I implanted the ICD for the patient. And is an SICD a good idea or not? Since, you know, no ATP, no good recording probably, but young people. So it's a very difficult, you know. Very difficult. Nowadays, we implanted the SICD for the patient with CPVT. If the patient had no bradycardia, it's very nice. So we implanted this SICD for the patient more than 10 years. And then for the After you, after you. Oh, maybe or you can maybe comment that plus this for the learners, just so they understand why are you all hesitant to put an ICD in a CPVT patient? Cool. And just so they understand, I think all of us, but we just want to kind of reiterate what are we so concerned about? Because the study of the CPVT showed no efficacy of the, you know, the no different between the survivor rate is no different between the patient with ICD or without ICD in a CPVT patient. But these data, based on the patient without the full medication, without a fleckinidol, we didn't know what happened after we used the fleckinidol and the beta blocker for the CPVT. And then so far, we don't know ICD can help for CPVT or not. So that's why, that's the reason that we don't use the ICD. I worry about storm. I worry about the bidirectional ventricular tachycardia not causing them to faint. So they get a shock while they're awake, which hurts and they get more adrenaline and they get another shock. And I had a child we admitted the other day was CPVT who had had 20 shocks from his device in a matter of a couple of hours. So it's scary. Just let me be the bad guy here. When you prescribe flecainide, there are some reports about, you know, bad arrhythmia outcomes of the flecainide. So do you use this in a clinical settings or do you do it under, you know, hospital settings before sending the patient out? I used to use flecainide always with no hospital admission, just in ambulatory settings. But there are some reports saying the opposite. So I wanted to hear from you, your expertise, what you do. I have many, many patients with CPVT. So I usually start this flecainide by outpatient clinic. But I think your suggestion may be great. Okay. Thank you very much. I admit children for it. If it's an adult who's been relatively arrhythmia stable, I'll do it as an outpatient, but have them get electrocardiograms fairly frequently as an outpatient. But children, I always admit. Same. I think that the pro-arrhythmic effect of the flecainide, it depends on the dose. So usually I use the flecainide in a clinic. However, when I would like to use the high dose of the flecainide, maybe I would ask the patient to admit to the hospital. I can hear all of the adult clinical EPs screaming at the TV, at the screen, why flecainide? Can you all comment on the mechanism of flecainide and why the heck this would affect a ryanodine receptor-mediated disease? So this is really nice work out of Bjorn Nolman's lab and a lot of work by Prince Canning Curl showing that flecainide actually has direct effects on the ryanodine receptor. So this is a defect where the ryanodine receptor is a gain of function. And so the flecainide is thought to inhibit that and decrease the release, the abnormal release of calcium during diastole. And I want to ask, I mean, I think it's been a beautiful drug. Me too. Go ahead, sorry. Okay. But in the patient with a bradycardia, flecainide is a very great medication for the CPVD. So in that case, I first studied the flecainide with a bradycardia CPVD patient. So any recommendation from you, Christina, Susan, or the other panel? If you, if, you know, whoever is here with us decide, I want to do an ablation, any recommendation on and guidance on how to perform the ablation? I tried several cases, but it failed. So I don't now started to recommend ablation for the patients with CPVD. So, you know, the results of the ablation are, you know, not optimal. And maybe I can, you know, since one of the differential diagnosis was was long QT, maybe short QT, not by HEG, but, and brugada. What do you think about the ablation of the epicardium in this patient recently reported in Milan as a treatment for brugada long and short QT? I just recently, I have a patient with brugada patient with a nine years old girl. But I ablate from the epi, not epicardial, from inside the heart. We successfully ablate the PT in the patient with brugada syndrome. So in, in children from the, because the ablation from the inside the heart may be, may be successful. Because my epicardium is thin? Yes. Okay. Interesting. I think there are different substrates and the mechanism of the arrhythmia is different between brugada syndrome, arrhythmogenic cardiomyopathy, where you have some structural potential cardiomyopathy versus CPVT. And that's my personal molecular mechanism is very different. And I don't think that I think while arrhythmogenic cardiomyopathy and brugada are more amenable from a structural standpoint, I think that CPVT is more amenable. I think that CPVT is unlikely to be as successful. Yeah. Do you think it's because it's just more diffuse disease? Yeah, I think it's cell. Yeah, I think it's cellular. Every cell. Yeah. Last question. Anyone just to bring up this, just because we have Dr. Etheridge and I, and I know you do a lot of ATS, but for your ATS patients or Anderson-Taylor syndrome, would you let them exercise? Yes, actually. Would you treat an asymptomatic patient like this one? I would treat this one because the burden is fairly high. And I think we used to think of it, in fact, I'm probably a suspect at this. We used to think of it as fairly benign, but there are more recent data to suggest that it may not be entirely benign. Certainly that burden of ectopy that they have deserves watching. And if you can suppress it, suppressing it. Beta blockers have been not great, but we've had great luck with flecainide in suppressing the arrhythmia in ATS. So we abused flec. Dr. Miyazaki or Dr. Sumitomo, do you have any comments? Have you had success also with flecainide? Yeah. I agree with Susan. I usually started flecainide and then beta blocker for the patient with ATS. ATS is a little bit benign disease not to develop VEF than CPVD patients. So I started flecainide and beta blocker for the patient with ATS. And is there anything you can help for the adults? Because like the mother of our patient, she presented as an adult and probably had recurrent VT as many of them do just kind of in your clinic to help the adults recognize this. And when it's so rare, do you have any pointers you can give to them? They have very small jaws and their dentists always complain. They've all had dental work because there's such dental crowding. That's kind of one of the uniform features I have seen. Truth is that every EP program should be as lucky as yours, the one where you work. Because when we have this patient, we want to refer this patient to experts like you for the treatment because none of us wants to deal with this complicated and difficult clinical management patient. And so I really enjoyed and appreciate all you have done for this field. Yeah, I think this was a great discussion. And I think it highlights kind of the interrelationship between the adults, the importance of adults and pediatrics, whether we're diagnosing these patients, right, as children, making sure that their family members, their adults are getting treated and for the adults out there, making sure that if you diagnose something, you make sure that their children come into our pediatric clinics. That's my last. Anyone else want to end with any comments? Remember, there are learners out there that are learning about these a little bit rare but important inherited arrhythmia syndromes. Tina, that was the most gorgeous electrocardiogram of ATS that I've ever seen with those massive U-waves. That was just beautiful. If you're a learner, memorize that EKG. It might come up on a test. These patients are out there. And this discussion was really wonderful. I want to again thank Dr. Pham for those wonderful cases. They were really fodder for a great discussion by our panelists. And again, our two moderators for holding this very informative hour. Thank you all again for joining episode seven of The Beat. And again, this is free and on demand. Thank you again. You all did a great job. Thank you so much.

sudden cardiac death

hereditary arrhythmia syndromes

palpitations

premature ventricular contractions

catecholaminergic polymorphic ventricular tachycardia

beta blockers

flecainide

ICD implantation

Anderson-Tawil syndrome