Chapters Transcript Video Ring Like Enhancement & Arrhythmogenic Cardiomyopathy Good morning everybody. I hope you guys can hear me. Thank you all for being here. So, uh I hope that we have a nice and exciting case, uh ringlike enhancement and non classical arrhythmogenic cardiomyopathy. No disclosures. So, here's just the basic outline. We'll go over the case. We'll talk a little bit about arrhythmogenic cardiomyopathy. How some of our uh definitions and understanding of this uh disease process have changed. Uh what is left dominant arithmetic cardiomyopathy. And uh let's talk about risk stratification. Why this is such an important entity to diagnose and appropriately risk stratify. Uh So a quote for all of our noninvasive colleagues and just in life, it's not what you look at that matters. It's what you see. And I think that's really important in cardiology. It's kind of understanding, not just the picture we're looking at, but what does it mean to the patient and to all the providers. So anyway, without further ado, here's the case. So the case is that of a 31 year old lady with only a history of a DH D and a family history of cardiomyopathy. Her father recently suffered sudden cardiac death at the age of 58 the whole family, first degree relatives had since undergone screening with uh transthoracic echocardiography. And the following are samples of our asymptomatic patients EKG and her screening uh transthoracic. So here is her EKG. So on first glance, you know, um might not make much of it, however, you know, kind of concerning that or unusual that you would have such low voltage. And then otherwise, um I didn't mention but like normal body habitus young female, um otherwise, you know, normal rhythm, a normal axis. Um And then here is that screening uh transthoracic echocardiogram. So, you know, we know not to make too much out of just uh one plane of images, but certainly does not look normal uh lb function does not appear to be uh robust. Uh Here, we have some of our short axis images. So, um you know, again, certainly not um you know, completely normal left ventricular function here on the apical views, it's a little foreshortened but certainly appears to be uh a bit dilated with, you know, at least, you know, mildly reduced LV function. The RV, on the other hand, does appear to be, you know, having adequate longitudinal motion. Um So again, to summarize 31 year old patient, recent sudden cardiac death in a in a f first degree relative. And uh now having abnormal findings on both EKG and echocardiogram to chamber view. So, you know, at this point, what's the next best step, would anyone send this patient directly for an I CD um or would we do more uh investigation? So, in imaging, the answer usually is get more imaging. And so of course, uh the patient was sent for a cardiac MRI. Uh And so here are some uh beautiful SSFP images of this patient's cardiac MRI. Uh So here we see, you know, uh you know, the comparative uh two chamber and plaques view And we can see that, you know, the left ventricular function is uh is, you know, you know, on visual assessment, mildly reduced. And again, here on the four chamber view RV appears to have normal longitudinal motion, some short ax of stacks. And now here we get to the uh Lake Adoum imaging. And so the next few slides are gonna take us down the lake aum images from uh from base to apex and right from, you know, some of the basal shots, it's actually the third uh all the way to the right, you can start seeing that there is some very unusual pattern of uh of lake Adoum enhancement. Um you know, and normal for those who don't typically read a cardiac MRI normal myocardium in the Lake Adeline images is is black, like just just pure, pure, pure black. And you can kind of see some of it, you know, here in the papillary muscles, you can see some of it in the sub endocardium, but from the subepicardial to the mid myocardium, you see this, you know, ring like um you know, whiteness around it, which uh um which you know, is uh late gin enhancement, which is suggestive of, you know, scar. Um And so now you have this patient, you know, with the family history of sudden cardiac death, abnormal LV function on echo and on MRI. And this very unusual ringlike subepicardial um you know, to mid myocardial enhancement pretty much throughout the entire myocardium. So now again, the same question, what is the next best step would just send this patient for an I CD or do you kind of open up the textbook and try to think about what, what it is that you're dealing with. So, you know, our biggest concern in these patients and these young patients is sudden cardiac death of an arrhythmogenic cause. So what is arrhythmogenic cardiomyopathy? So, it's an inherited uh non ischemic cardiomyopathy characterized predominantly by progressive cardiomyocyte loss and fibro fatty myocardial replacement. It's considered hereditary, but only half of patients have pathogenic mutations of the desmosome gene identified as causative of the disease. So, it's one of the leading causes of ventricular arrhythmias and sudden cardiac death in young people and athletes. And you know, traditionally, we've always kind of thought of it as a right ventricular disease and it is the fir as the first and predominant side of involvement. However, there have been numerous, numerous, numerous studies and data coming out that you know that there is non classical arrhythmogenic cardiomyopathy and that there's a lot of biventricular disease and just left dominant disease. And you know, left ventricular involvement, either as biventricular or left dominant has been reported in almost 50% of cases of arithmetic cardiomyopathy. So, it's important to identify this clinical entity, right? There's no curative treatment of arrhythmogenic cardiomyopathy. However, you know, we can try to figure out which patients would benefit most from, you know, from an I CD. So what's the role of MRI? So the role of MRI, it's become the preferred imaging modality for the evaluation of structural and functional ventricular abnormalities and for the noninvasive tissue characterization, the extent and pattern of LGV has been or lake Adeline enhancement has been found to be useful to improve your stratification. And the lake Adeline enhancement extent and multifocal patterns of lake Adoum enhancement were independent predictors of of adverse cardiac events and numerous non ischemic cardiomyopathies. You can talk about hypertrophic cardiomyopathy, other genetically mediated cardiomyopathies, but certainly also an arrhythmogenic cardiomyopathy. Left ventricular LG phenotype characterized by a ringlike pattern, has proved to be independently associated with ventricular arrhythmias in dilated cardiomyopathy. So, talking more about, you know, arrhythmogenic right ventricular cardiomyopathy or arrhythmogenic um cardiomyopathy in general. Um what is what has kind of changed over time. So, the criteria for diagnosis of arrhythmogenic cardiomyopathy was first proposed in 1994. It was later revised in 2010 by a task force. Um And then, uh although the task force criteria demonstrated a good accuracy for the diagnosis of the original red ventricular phenotype, they lacked sensitivity for identification of the expanding phenotypic spectrum of arrhythmogenic cardiomyopathy, which includes left sided variants. And it did not even incorporate lake Adeline enhancement. You know, our the growth of cardiac MRI as a prognostic and diagnostic modality has really grown, you know, even just since 2010. So it just shows you how exciting of a time it is to be a noninvasive imaging. But anyway, in 2020 a task force was put together in uh in Padua Italy. Um which um by the way, for whatever reason, Italy tends to have a higher um uh uh prevalence of, of uh rhythmic uh cardiomyopathy. And anyway, so the task force is put together there. And so uh we can talk a little bit about it. I'm not going to go into it in every detail just for the sake of time. But I think it's important to note that basically you have your major and you have your minor criteria, you have more full functional ventricular abnormality. So basically any more full functional ventricular abnormality of the RV. Um And then also there's a criteria for LV involvement in the Padua criteria, then there's structural ab abnormalities ie you know, if there's transmural lake Adeline enhancement or if there's fibrous replacement as seen on myocardial tissue biopsy. And then you have RV and LV involvement, then there's EKG criterias. So basically three and four are your EKG criterias, both three polarization and depolarization abnormalities. I'd like to point out that the minor criteria of, of four is the low QR S voltage is actually considered a minor criteria which we did see in our patient. So, you know, sometimes we see these things in these young patients. It's very easy for us to not, you know, you know, think much of it. But uh you know, uh it has been implicated and, and it is part of the PAW criteria, uh ventricular arrhythmia. So it's important in these patients to, you know, perhaps give them a monitor to see how much extra systoles they're having PV, CS, NSVTS, et cetera. Um And then obviously, of course, family genetics and history histories of sudden cardiac death uh or having known genetically positive uh uh known mutations that have been associated with the remagen cardiomyopathy, of course, also plays uh plays a role. And so, you know, how do we use the, the Padua criteria in clinical practice? I found this uh flow chart uh from the Journal of Clinical Internal Medicine that kind of uh helps uh understand how, how to use it. So basically, if you have one major or minor morphological criteria of the RV, uh if you go, yes, then you kind of go down and if you have any morpho uh uh functional uh criteria of the LV, then you're thinking that this patient has biventricular can have biventricular um arrhythmogenic cardiomyopathy. Uh if they don't have any signs in the RV, you can still be positive for arrhythmogenic cardiomyopathy and you can potentially be, you know, uh left ventricular dominant. So, CMR studies demonstrated the LV was involved in almost 50% of cases of A RVC. So, you know, just because the RV isn't involved or because the R you know, the LV is also involved with the RV doesn't mean that the patient, you know, does not have arrhythmogenic cardiomyopathy, you kind of have to dig a little further. Uh And so, studies were actually looking the uh uh by uh ACURA and, and, and colleagues, uh what is the importance of LV involvement in in these cases? So, uh in their, in their study titled prognostic value of uh Mr phenotype in patients with a reno um right ventricular cardiomyopathy. They studied 100 and 50 patients in six different institutions and based on the revised Task Force criteria, patients either had definite diagnosis when fulfilling two major, one major and two minor criteria or four minor criteria. Uh And then they basically broke down patients into those that had uh loan RV involvement, biventricular involvement, uh LV, dominant or negative CMR. And you can see on the Y axis was survival probability. They tracked these patients. Um The median uh time was five years from uh uh uh from randomization. Uh Well, not from randomization basically from the beginning of the cohort analysis. And you can see that patients with the LV dominant uh phenotype actually had the worst survive survival prob uh probability that biventricular actually had worse than loan RV. And patients with a negative uh CMR. But we're still diagnosed with arhythmic cardiomyopathy actually had 100% survivability just to kind of emphasize the importance of cardiac MRI and the prognostication of of this uh clinical entity. So overall LV involvement was found in 36 of 48 patients or 75% of the patients that actually had events, either a sudden cardiac death, uh an aborted um uh you know, appropriate I CD shock or an aborted uh ventricular event. Um you know, 36 out of 48 of the patients or 75% of the total with events actually had LV involvement. So they actually proposed uh this kind of flow chart to kind of help us understand which patients should get an I CD. Um And so if you know, A RVC is diagnosed, patients should get AC, Mr oftentimes CMR is being done as part of the work up for patients. Um You know that you're considering for A R BC, if there's LV involvement immediately, they suggest getting an I CD. Uh If there's greater than 15% risk based on the A R BC, um like calculated uh risk risk score, five year risk score, you should get an I CD, if there's no LV involvement or if there uh or if the A RVC risk calculator uh comes out to less than 15 uh percent. There's no I CD, but, you know, not all LV involvement is the same. You know, our patient that we showed had pretty much comprehensive basal to apical subepicardial to mid myocardial lake Adeline enhancement. Is that the same if she had say just one focal, you know, patch of late goten enhancement um or um you know, how do we further risk stratify these patients? So, this study, I think uh was, is actually really helpful and, and further looking at um uh looking at this exact question. So basically, they um uh did a study uh titled uh Ring Lake Lake Ato and Enhancement provides incremental prognostic value, nonclassic arrhythmogenic cardiomyopathy and basically had 73 patients in their final co cohort, which they divided into two groups. They had the non ringlike group and the ringlike group. There was 33 patients in uh the non ringlike and 30 patients in the ringlike group. And you can see this is kind of an example. Uh the image um uh to your left is the ringlike group. And then the image to your right, you can see that there's non ringlike, there's focal um um a more patchy disease. And so, what did they find? So uh you can see that, you know, not surprisingly. And and it was also seen in the prior study that, you know, patients with no LGE did much better compared to patients that had any kind of LGE. So having any sort of LGE or like Adeline enhancement was uh was a negative prognosticator. But then what about the extent? So you can see that, you know, the extent is very helpful and that patients with greater than uh 19, greater than equal to 19% of scar had significantly more uh events than uh than, than patients that um had less than 19 and certainly much more than, than patients with no late at a line enhancement. But then what about the ringlike enhancement in general? So patients with the ringlike cardiomyopathy, um they had a statistically significantly worse outcome than, than patients with uh with non ringlike cardiomyopathy uh patterns. And then, uh of course, the patients without any uh cardiomyopathy as well. So I think based on this study, you know, uh you know, to extrapolate from it, you can say that, you know, patients with LGE do worse than patients that don't, not surprising shown in a lot of studies, patients with more LGE greater than, or equal to 19% do you know worse than patients that, that have less. And then patients with the ringlike pattern, whether it's because they just have more total scar. Um or because there's something inherent to that sort of pattern tend to do worse than, than, than patients uh who, who don't. So in summary, I know this is kind of a whirlwind. Uh A R BC or arrhythmogenic cardiomyopathy is extremely challenging to diagnose. Uh it's really challenging to risk stratify. A lot of times you're confronted with patients who are very young, you're very scared to, you know, who are worried about putting in an I CD in these patients and, and all the ramifications that that that means screening is extremely important if you do have patients that do get this diagnosis, whether it's a family member, sending these first degree relatives for screening and not just genetic screenings. Remember that 50% of patients may not get a positive genetic test. So, screening with and, and, and going through the pad criteria or at the very least the the 2010 task force criteria and trying to diagnose these patients um with this in a systemic way. Cardiac MRI does and will continue to play an integral role in both the diagnosis and uh prognostication. And uh you know, ultimate treatment of patients with a rhythmic cardiomyopathy, having LV involvement is associated with malignant ventricular arrhythmias and sudden cardiac death. And to our knowledge, ringlike ventricular involvement is more malignant than, than non ringlike patterns. Um So these are my references and uh thank you. Published November 13, 2024 Created by Related Presenters Denis Yusupov, MD Cardiology View full profile
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