Hypertrophic Cardiomyopathy: Shared Decision Making & Behaviour Change Management

PCNA (00:03): 

Welcome to Heart to Heart Nurses, brought to you by the Preventive Cardiovascular Nurses Association. PCNA's mission is to promote nurses as leaders in cardiovascular disease prevention and management. 

Dr. Eileen Handberg  (00:18): 

Welcome everyone, and thanks for joining this episode of Heart to Heart Nurses. This is the third installment of our hypertrophic cardiomyopathy podcast series. I'm Eileen Handberg, president of PCNA and a nurse practitioner and director of research in the division of cardiovascular medicine at the University of Florida.  

Our conversation today is with Deatrah DuBose, who's an advanced nurse practitioner from Atlantic Health in Morristown, New Jersey. She's been a nurse practitioner with over 25 years of experience, 17 of those in the cardiothoracic surgery area. Currently, for the past eight years, she's been the hypertrophic cardiomyopathy nurse practitioner at the Chanin T. Mast Center at Atlantic Health. She wears multiple hats since she's the acute care practitioner program coordinator, as well as the clinical coordinator for the simulation lab. Sounds like you're really busy. She got her bachelor's degree at Rutgers College of Nursing and her master's at the University of Pennsylvania. And she also was a faculty member at Rutgers for eight years. So an incredible experience portfolio for Deatrah. We're very happy and lucky that we have her today.  

Today our discussion is going to be focused on the management of shared decision-making and behavior change in hypertrophic cardiomyopathy patients. And for the purposes of the podcast, we're just going to call it HCM. Makes it a little less of a tongue twister as we go through. So we'd like to go ahead and get started. We know that HCM is a common genetic heart condition in the United States, and with one in 500 diagnosed with a condition worldwide. In HCM, the wall of the heart's left ventricle is thicker than normal, reducing the heart's ability to pump blood efficiently. Current treatment options for HCM are limited, and no therapeutic interventions targeting the underlying cause of the disease have been approved as of yet, but more on that later. For some HCM patients with more advanced disease progression, or more pronounced symptoms, surgical or other invasive interventions may be appropriate. Navigating the journey requires a shared decision-making approach with the patient, the patient's family, and the healthcare team. And so we're going to learn more today in our discussion with Deatrah. We're so excited you're here joining us today. Before we get into the whole process, can you tell us a little bit about your center and the team that surrounds you in the HCM Center? 

Deatrah (03:01): 

Absolutely. And thank you for having me. We are a Hypertrophic Cardiomyopathy Association Center of Excellence here, and actually, we have three attending physicians. I have Dr. Matthew Martinez, who is a sports cardiologist, as well as a hypertrophic cardiomyopathy specialist who is here on a full-time basis. I also have Dr. Martin Maron and Dr. Ethan Rowin from Tufts Medical Center who come in as well to see patients here on an intermittent basis. We also have a plethora of nurses, medical assistants, Dr. Martinez is working on getting a per diem geneticist to complement some of the services that we offer. We also have electrophysiologists that are well versed in hypertrophic cardiomyopathy, as well as a few nutritionists who are more than happy to speak about our patient population and guide them with their diet modifications. Because with HCM patients, they do have what we call diastolic heart failure, which is different from systolic heart failure, which I'm sure has been discussed on prior podcasts concerning this topic. 

But the lifestyle modifications for diastolic heart failures are the same as those that are in systolic heart failure. A lot of times patients need assistance with diet. We also have a plethora of imaging physicians that are versed in echocardiography. We have a hypertrophic cardiomyopathy echo protocol that we utilize, which is different from your general cardiac echo that you might see at a general cardiologist's office, and we also have imaging studies here. Cardiopulmonary exercise testing we do here to gauge the degree of heart failure for our patients who have progressive heart failure, as well as a cardiac MRI machine that looks into scarring, which perhaps other MRI facilities may or may not have. 

Dr. Eileen Handberg  (05:06): 

Wow, that's a lot of resources, and I'm sure the any patient would be fortunate to be at your center, so really excited to hear about that. Can you talk a little bit about the patient journey for HCM, given that this is a genetic issue? I would imagine that there's a lot of education. You mentioned the need for genetic testing and counseling and inclusion of the entire family in treatment decisions. How is that? I would imagine you end up having clinics where you have to talk about the entire family, right? And get very detailed histories. Could you talk a little bit about that? 

Deatrah (05:51): 

Yes. HCM is a genetic cardiac condition that's inherited, and so we do an extensive family history, and a lot of the things that we're looking for is family history of sudden cardiac death under the age of 60. You have families who say, "Oh, yes," you've had a uncle, perhaps, on the father's side of the family who passed away at the age of 50 from what was thought to be a heart attack. A lot of times it's not a heart attack and it perhaps might be hypertrophic cardiomyopathy. Or a 22-year-old who passed away from what was felt to be heart disease. So we certainly take a look at family members who've passed away suddenly and at a very young age, we also do look at family members who have a history of heart disease arrhythmias, because there are a subset of HCM patients who at risk for atrial fibrillation. So we look for family members that have arrhythmias who have not been diagnosed with HCM but have a history of heart disease on top of that. 

And to your point about genetic testing, it is a genetic condition. And we're still learning about HCM, and we know that there are over 1800 genetic mutations that are specific for HCM and the number keeps growing. We do suggest that for some patients who had genetic testing, we didn't get a positive hit because we didn't know that many genes back in the day, to consider getting retested every eight to 10 years because things are always changing. So yeah, genetic testing is, at this point, 40% hit for HCM. So unfortunately there's a lot of patients who have HCM because we can verify that with cardiac imaging studies that we do genetic testing with, and they come back with no pathogenic mutations discovered. That doesn't mean that you don't have HCM or you don't have an inherited HCM, we just don't know the gene-specific for your particular family, and for those patients, we do recommend that they retest in eight to 10 years. 

For those who do get a positive hit, what we can then do is test their children. And we usually reserve genetic testing for those patients who have HCM, who have children and grandchildren, because genetic testing can be used as a screening strategy, a possible screening strategy. The other alternative to screening strategy for HCM, of course, is an echo and EKG, and for those in the pubescent period, HCM generally tends to occur more times than not during the pubescent period, although there are a small subset of patients who have late onset HCM, and they do develop it. I had a lady who developed it in her fifties post-menopause, which was very interesting. She was gene positive, so we felt all this time that she was a carrier only for her to develop it right after menopause, which was very interesting actually. So we can use the gene testing as a strategy for it, but because you have the gene does not necessarily mean that you have HCM. 

You could be just a carrier, and we call that genotype positive but phenotype negative. You could just be a carrier. We have kids who are genetically tested. Let's say, for example, you have a patient who has HCM. We've got a genetic mutation that we were able to identify. We then have that patient's children tested and we test for that particular gene. We don't do a full genetic panel. We only test the children for this particular gene that the patient tested positive for. It's cheaper that way. And if the child is positive, then of course they have to be monitored. Again, they can be negative, or we can test them and realize, "Oh, they do have a thickness perhaps in their septal wall, or in their apical wall." They do have HCM, then they become genotype positive and phenotype positive. 

Dr. Eileen Handberg  (09:53): 

Yeah, no, that's fascinating. And I think that we're lucky that the genetic testing has advanced so that we can better understand the impacts of disease. I'm sure it's a difficult situation, A, to find out that there's something genetic, and then, if you had no idea in your family and then you have children, I can imagine that's a blessing to be able to determine that so you can at least monitor the children. I imagine there's some issues that parents would have difficulty thinking, "Well, I've passed something on.” Can be a little bit distressing, I would imagine. 

Deatrah (10:38): 

Yeah, there's some guilt associated with that, and there's also another particular point that I do want to emphasize. Insurance. Now, the GINA Act is supposed to protect people and patients from discriminatory practice from insurance companies, however, with parents who decide to test their children, we do suggest, I know that Dr. Maron and Dr. Rowin, particularly, counsel their patients on this, we do recommend that the children, if they are young, to have life insurance and, if possible, disability insurance. If your children are in their twenties or thirties, we recommend that they get life and disability insurance, if they don't already have it prior to getting genetic testing, because if they become positive, the insurance company has access to gene panels and they run the risk of having premiums that are just too costly. Yes. 

Dr. Eileen Handberg  (11:33): 

Oh, that's amazing. I would not have thought of that. Yeah, that really would protect them. 

Deatrah (11:38): 

Dr. Martinez will say to you on the flip side if you do get genetically tested and it's negative, you can say to the insurance company, "I don't have it because I don't have the gene." So it's a pro and con to that, of course, and that's involved in the shared decision-making process. And that's also part of the shared decision-making process in HCM. There's just so much of it, in HCM, that we do. 

Dr. Eileen Handberg  (12:00): 

Yeah. Oh, that's fascinating. So let's talk a little bit about the risk of sudden death in the HCM patient population. Can you talk about that? How do you address that issue with patients and families? 

Deatrah (12:17): 

Sudden death occurs in a small subset of patients with hypertrophic cardiomyopathy, believe it or not, but a lot of the general cardiologists are not aware of that. They see HCM and automatically they're giving a lot of the patients the gloom and doom talk, and a lot of times when they come to our center they are stressed and anxious to the max because they're concerned that they're going to die tomorrow.  

So, one of the things that we strive to do when you come to the Chanin T. Mast Center is we try and make our environment relaxed, put them at ease, because it's just so stressful when they come to our center to learn about what are my risk stratifications for sudden cardiac death? So there are some things that you need to have in order to be at risk for sudden cardiac death. One of them is if you pass out. If you pass out, and when I refer to passing out I mean where you're upright one minute and then you are on the floor the next, or you wake up and you lost track of time and you don't know what happened. 

That's more similar to having an arrhythmia versus there are patients with obstructive hypertrophic cardiomyopathy, with activity they have rising pressures, and the pressures get too high in their heart, and then they have decreased blood flow to their brain into their body, and a lot of times their symptoms are lightheadedness, dizziness, they're having what we call a gray out. They know that if they don't stop, they're going to pass out, and then they stop what they're doing and rest, and then they recover. That's not syncope. And if they do pass out and decide to push themselves, that is syncope related to obstruction. When we're talking about arrhythmias, we're talking syncope where you're there one minute and you're gone the next. 

For example, I had a patient who was in the car driving, minding his business, everything was great, and the next minute he had hit three cars and was on the side of the road and had no idea what just happened. Syncope like that, or a patient who's in the bathroom one minute and then they were at the bottom of the tub the next, hit their head, and they don't know what happened. That sort of syncope.  

Another risk that you can have, another factor that puts you at risk for sudden death, is a family history of sudden death under the age of 60. So if you have a cousin, a parent, a grandmother who died young from a presumed heart condition, that puts the patient who's being evaluated at our center at risk. Or sometimes when we're evaluating our patients, we put them on an event monitor or a Holter Monitor, and if they have several runs of ventricular tachycardia, you're at risk of having sudden cardiac death because you're having a ventricular tachycardia. 

Another thing is we look at wall thickness of the left ventricle. In HCM, usually it's de septal wall, and that's the wall between the left ventricle and the right ventricle. That's the wall that's usually thick. There is a small subset of patients, I'll be saying that frequently, that have it at the base of their heart, and that's called apical HCM. It's not as common. If your wall thickness is 30 millimeters, then that puts you at risk automatically, and a lot of times you see large hearts in your athletes. So there's that cross between athletes and HCM, which is why you have Dr. Martinez who's a sports cardiologist as well as HCM specialist because there is that crossover. 

The last thing that we look at for risk stratification is the amount of scar noted on cardiac MRI. All patients being evaluated for HCM, because we feel that they may have it, will get a cardiac MRI, and we're looking at the degree of scar. Currently research shows if you have 15% or more of scarring in your ventricle, that puts you at risk for sudden cardiac death. So we look at those things, and in HCM we do that shared decision-making process where we discuss with the patient and their family our recommendations of, "Hey, you have the following criteria that puts you at risk, say, for a sudden cardiac death," and we discuss recommendations of, we need to consider and discuss an ICD. We give the patients the pros, we give the patients the cons, and we let the patients think about it. What are your thoughts concerning what we discussed? Some patients want to think about it and get back to us. 

We also will recommend some reading material, like the Mayo Clinic has great website that patients can refer to for patient ed in reference to this. Usually, we'll allow the patient to get back to us, or some patients are able to make a decision right there on the spot. And the purposes of shared decision-making is so that the provider and the patients can work together to make a decision, and select what treatment options work the best based on evidence-based practice that works the best for that particular patient. You talk about the risks, you talk about the expected outcomes, and you put that in conjunction with the patient's preferences and values, and that way you have the patient make the best decision possible. And when you do it in that fashion, you have a higher rate of patients being compliant and conforming to the treatment plan that was mutually agreed upon. 

Traditionally, back in the fifties, medicine was more paternalistic. Doctors told you what they felt was the recommendation. You were expected to do what they say, irrespective of the patient's preference or values. And we don't do that in today's day and age because we have to be mindful of culture, patient's beliefs, preferences. And I have to say, I had a 62-year-old female who had shortness of breath with inclines and stairs and palpitations. She had an echo and her primary cardiologist realized that she had HCM and he referred her to our center. We did a monitor on her. She had multiple runs of ventricular tachycardia. I think the longest one was 26 beats per minute at about 190, about 26 beats at 190 beats per minute, I'm sorry. And she admitted, she hit the button, well, she admitted that she felt the palpitation and she felt like she was getting ready to drop, and then she spontaneously broke. She converted to a regular rhythm and she was fine. So she had multiple of those, did I mention that? 

So of course, we had this shared decision-making discussion, "Well, you know, you have a risk of sudden cardiac death. I mean, you're coming close to the end of the cliff here." What prevented her from falling off the cliff was she spontaneously broke. Talk about close calls. And I do believe that the HCM Specialist told her she had a 4% risk of this occurring per year, for sudden cardiac death, extrapolated over the next 10 years. And she felt that a 4% risk was low, and she decided that an ICD was not for her and you have to respect that. Despite the fact that she was having multiple runs, multiple. 

Dr. Eileen Handberg  (19:34): 

We'll be back after a quick break. 

Dr. Eileen Handberg  (19:36): 

We're back to discuss more about hypertrophic cardiomyopathy. In shared decision-making, there are some areas where there are shared decision-making tools that are published to help people go through things like a treatment of anticoagulation and atrial fibrillation. There's some standardized tools. Is there a standardized tool for shared decision-making in HCM? 

Deatrah (20:04): 

There's a shared decision-making tool for ICDs, but not for HCM. So we just have discussions and we document that we had a shared decision-making discussion about the pros and cons of whatever the case may be. And after a thoughtful discussion, the patient decided blah, or the patient appreciated our discussion, but wanted to think about it further with their family and would get back to us. 

Dr. Eileen Handberg  (20:29): 

When you have these plans, and especially with HCM, again, because it's genetic, or has a genetic component to it, or could, do you find that the visits that you have the family's all there, or are people still being seen by themselves and they take this information back to their families? Because I've been practicing for a long time, and the discussion that we have in the office doesn't always translate well when they get home. How many times have you heard the wife say, "You don't tell them anything when we get here, and you didn't tell me what the doctor said when you got home," and there's this communication gap in a lot of clinic visits, and this is such a complicated issue. I just wonder, do you tend to pull in family conferences around this? Do you talk to kids? How does that work? 

Deatrah (21:36): 

That's a good question. I would have to say more times than not for the initial consultation most women bring their husbands or their adult children. 

Dr. Eileen Handberg  (21:49): 

Okay. 

Deatrah (21:51): 

Most men bring their wives. I've had a few patients who came by themselves, and usually, when they come by themselves, to your point, their spouse is calling us a day or so later trying to get the information because they didn't get a good enough picture from their significant other. And children always come with both parents for the consults. Absolutely. And sometimes I've had grandparents too. 

Dr. Eileen Handberg  (22:18): 

Okay. Wow. If you were new to this area, how do you interact with patients in the shared decision-making model? Do you have this discussion with the attending and yourself in the room, and then the attending leaves and then you answer all the questions they didn't want to ask the attending, or how does that work? 

Deatrah (22:48): 

Okay. If they're being referred to our center to be evaluated, more times than not they're being referred for confirmatory diagnosis of HCM and medical management. So we ask from their primary cardiologists, all cardiac imaging and discs, because, of course, my attending, most of our HCM specialists, want to see the imaging studies for themselves. So we ask for that ahead of time. If they haven't had a complete workup, and what we usually require is, minimally, a resting echo. If they had a cardiac MRI, that's perfect. If they've had an event monitor, or a Holter Monitor, that works too, and a stress echo, that's great. For Dr. Martinez, we'll take whatever imaging that's present, we'll evaluate the patient, and then to determine treatment options we'll order whatever else we would need. For example, a cardiac MRI is necessary to complete risk stratification because you're looking for scarring. An event monitor or a Holter Monitor is necessary to see if the patient's having any arrhythmias. 

Usually, in HCM, you're looking for a ventricular tachycardia for a sudden cardiac death, or sometimes the patients will have atrial fibrillation and don't even know it. HCM patients have a higher risk of stroke compared to any other patient with cardiac issues, and that's regardless of the CHAD risk scoring. CHAD scoring does not work for HCM patients, and so we don't use it for HCM patients, believe it or not. So that's important for our advanced practice nurses to know that we don't CHAD score our patients for their risk.  

If they have AFib, we're putting them on anticoagulation. Now like one or two short runs over a three-to-four-month period, we would not consider putting anticoagulation on them, but if we've noticing that they're having one to two episodes on a monthly basis, then...because most patients with HCM know when they're having AFib, they have the palpitations and they feel lousy. They miss that 20% of cardiac output from that atrial kick. So more times than not, they know it and they know when they convert because they suddenly feel better. So usually we'll put patients on NOACs or DOACs automatically when you start to have atrial fibrillation, because it only gets worse over time. And initially we'll increase beta blockers, but beta blockers do not prevent atrial fibrillation in the HCM population. If you notice that they're having a lot of AFib episodes, we're going right to antiarrhythmics, and we have discovered that Sotalol works wonderful in helping to control atrial fibrillations in that particular patient population. If Sotalol doesn't work, then we go to, and perhaps, do a shared decision-making process to discuss with the patient the option of an AFib ablation, which is only about 70 to 75% successful in that patient population, as well as changing antiarrhythmics to Tikosyn. We generally tend to reserve Amiodarone for our older patients. We do not like putting Amiodarone on our younger patients, because of the long-term side effects. 

Dr. Eileen Handberg  (26:00): 

Okay. Let's go back a little bit to shared decision-making in this population for the ICD therapy. Can you walk us through the discussion that you have with them about ICD therapy? Because there's lots of indications with low EF, but a lot of patients get a device and then never have the event. Now, it's insurance, I get that, but a lot of patients will come back after having a low EF and having an ICD in for four or five years, and saying, "Gosh, I never had one event. Maybe I didn't need it." So can you talk us through that shared decision-making conversation in the HCM patient? 

Deatrah (26:50): 

Sure. And we'll use ICD as an example. You first want to check the patient's knowledge about HCM risk stratification, "You're at risk of sudden cardiac death," and you want to talk to them what they know about ICDs, because you need to have that discussion about what an ICD is, what it's going to do for the particular patient, and as we said, it's for insurance, and God forbid that they have a risk of sudden cardiac death. And to your point, there have been patients who've had the ICD and they never had a discharge. Woohoo! But I have had a patient who had her ICD for 20 years before it went off. Yeah, 20 years. 

Dr. Eileen Handberg  (27:30): 

That's a long time! 

Deatrah (27:30): 

Long time. She was walking and didn't feel well, and next thing you know, bam, she had the discharge right there. So you never know when it's going to happen. So the ICD is used as insurance. And then we list the option. You can opt not to have an ICD. I mean, again, it's 3%, three to 4%, depending on what your risks are, extrapolated. And remember that's cumulative, so year one can be 3%, year two is six, in year three it's nine, and so on. So it goes up the longer you are around. So we talk about, you can have the ICD or not, you can do a loop recorder and we can just continue to monitor, but we have to let the patients know that you can have a loop monitor, but that's not going to help you should you have an arrhythmia, but it's an option. And there's pros and cons, and we could an ICD, and then we talk about the different types of ICDs. We have subq ICD and we have the transvenous ICD. 

Now patients with hypertrophic cardiomyopathy are hyperdynamic. It's expected that their EFs be 70, 75, 80%. Because they have all that muscle, and when that muscle contracts it contracts with such force. That's to be expected. So a patient, to be considered having diastolic heart failure is if their ejection fraction is 50% or lower, which 50% is normal for someone who doesn't have HCM, but with someone who does have HCM, 50% is diastolic heart failure, because they're supposed to be 65,70, they're supposed to be hyperdynamic. And if they're not hyperdynamic, then something's wrong with that muscle. So if you have a patient who's being evaluated and we think the patient has risk for sudden cardiac death and their EF is 55, 60. Yes, we're going to have to talk about ICD, but then we're going to have to talk about the different types, and then that also sways into which type. 

Deatrah (29:30): 

Subq ICDs do not have pacing functionality. It can only detect VTAC or not. That's it. If your injection fraction's going to be 60 or 55, there's a risk that over time the EF could get lower, 50% or below, and that's usually when you really start having symptoms of heart failure. The transvenous ICD would be preferred because of its pacing functionality. And also to those patients who generally start to have issues with diastolic heart failure have an increased risk of atrial fibrillation as well, and we would be able to track that because we can do the downloads because we would want a dual chamber, not a single chamber, ICD. Okay? And we talk about that. 

Dr. Eileen Handberg  (30:18): 

So the woman that you talked about who had the fairly sustained VT but didn't totally pass out, and having multiple episodes, and refuses the ICD. Is that part of the follow-up to recheck with her at a periodic basis to see if she's changed her mind, or... 

Deatrah (30:41): 

Yeah. Well, first when we evaluated her, we did the event monitor as part of that visit. We followed up with her for the discussion, with the results, and had that talk. She was adamant about not having ICD. Okay. So you document. Her primary cardiologist sent her back to us a year later and we went through the rigmarole again. This time, I didn't think she had as much VTAC? I think maybe she had one run? Still 20 beats. We still had the discussion and she still was refusing. Okay. So I think she felt that we were going to have that talk with her every time, and we're not because we know, but she didn't come back after that. We never saw her again. 

But I did see her son for screening evaluation for HCM about four years ago. She was still around. Yeah, she's still alive. Haven't seen her. She's doing Okay. So I'm like, "Okay, well it's good to know. I'm checking in. Send her out regards." She was stable enough that her primary cardiologist felt that he could manage her, and here in the HCM Center, we have some patients who feel better when they see us on an annual basis as part of their HCM care. There are some patients who feel, "Well, I feel good. I feel great." They have no symptoms, which puts them at New York Heart Association Class I, and if that is the case, then you could certainly continue to follow up with your primary cardiologist and return back to us if you are having symptoms. 

Dr. Eileen Handberg  (32:05): 

Great. Well, yeah, this has been a fabulous conversation. Do you have any parting words or thoughts to give our audience about HCM, and about the care that you deliver, and shared decision-making? 

Deatrah (32:25): 

Shared decision-making is a process, and it involves listing the options for the patients, explaining those options, the good, the bad, the ugly, providing decision support, such as links to the internet, booklets if you have them in your office. We also have an HCMA website that we refer patients to, to get a lay of the land. They can also schedule an appointment with Lisa Salberg, who runs that association. She's more than happy to talk to you about HCM and your particulars. As an individualized one-on-one discussion about HCM, what it is, what it's not, and what would be the best options for you. She does a great job with shared decision-making, as well, and preferences. So HCM, it's not a Jack of all trades, master of none, but it's not as scary as people think that it is. And you can live a normal and healthy lifetime with HCM. That's the biggest takeaway from that, and you need to inform patients of that as well. 

But all of HCM is a shared decision-making process in terms of treatments, surgery, because we also have surgery as a possible treatment option for obstructive HCM, and ICD therapy, genetic testing. I can't say it's a wonderful condition, but it's an interesting condition that's not always the same, which always keeps me peaked, and it's so very interesting. And the treatment options are very individualized and vary from person to person. It's great. And we're always looking for people. 

Dr. Eileen Handberg  (34:01): 

Great. Well, I mean I think HCM requires personalized medicine for sure to get optimal management, and we're lucky that we have centers of excellence around the country, and practitioners like yourself who are giving this level of care for these patients who have been told that they have something and there's possibly something genetic, it affects their family. So thanks to you, Dr. Martinez, and centers like yours around the country that deliver this care. We're very, very appreciative. And we're very appreciative of you being on our podcast today and thank you so much.  

On behalf of PCNA, we'd like to thank Bristol Myers Squibb for their support of this non-CE podcast. PCNA is proud to offer educational opportunities like these to further our commitment to educate our members in an objective way, regardless of funding support. Thanks to everybody for attending, and we look forward to you on our Heart to Heart podcast in the future. 

Speaker 1 (35:09): 

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