Anjali Tiku Owens, MD , and Sharlene Day, MD, discuss the interdisciplinary team at the Center for Inherited Cardiac Disease at Penn Medicine. Drs. Day and Owens examine the importance of family member evaluation, the approaches by which the Center identifies at-risk persons for inherited cardiac disease, and the latest treatment options and research available for these patients and their families.
Related Links: Dr. Owens' physician profile Dr. Day's physician profile
Welcome to the podcast series from the specialists at Penn Medicine. I'm Melanie Coal and I invite you to listen in as we discuss the center for inherited cardiac disease at Penn Medicine. Joining Me is doctor Anjali Owens. She's the medical director of the Center for Inherited Cardiac Disease at Penn Medicine and Dr Charlene Day. She's the director of translational research in the division of Cardiovascular Medicine and Cardiovascular Institute at Penn Medicine Doctors. I'm so glad to have you join us today, Dr Owens. What's the difference between inherited cardiac disease and congenital heart disease? Tell us a little bit about inherited cardiac disease, the prevalence and what types of diseases fit under this umbrella? Great question and the source of confusion for both patients and health care professionals. Congenital heart disease is really a group of conditions that are present at birth and relate to structural abnormalities in the way the heart forms in Euro. This includes the pumping chambers, the valves, the connections between the chambers and the blood vessels, and common congenital heart defects include atrial septal defects, ventricular septal defects, co optation of the aorta and then also more complex congenital heart disease such a tetralogy of below, or transposition of the great vessels. The prevalence changes the type of condition that you look at. In some cases, the abnormality is the result of a genetic abnormality. But in many cases of congenital heart disease, the cause is unknown. Patients with these conditions were treated at the Penn Center for Adult Congenital Heart Disease. Inherited heart conditions developed as the result of a genetic abnormality, or change in the DNA. The most common inherited heart conditions are abnormalities of the heart, muscle or cardiomyopathy, inherited arrhythmias or familial hypercholesterolemia. If one of your patients is diagnosed with these conditions, we recommend tests to check family members, hearts and genetic testing to see if we can identify the genetic variant that is responsible for the conditions. Dr. Day tell us a little bit about risk. As Dr Owens just mentioned with parent and familial genetic predisposition. Tell us if there's a demographic for inherited cardiac disease. Most of inherited heart disease is really have no specific geographical predilection. Their prevalence is very similar, really across the globe and all populations that have been studied as faras, whether they affect more women or men, most of them affect both equally because the majority of genes air involved are located on the non sex chromosomes. There are a few of these that are excellent, which means that males generally arm or severely affected, and as far as when the disease is manifest in life is, Dr Owens said. It's really highly variable, and individuals are born with the gene variant or mutation that can lead to a particular condition. But sometimes the condition may not manifest itself at all. Maybe it will manifest itself sometime during adulthood. Or it could manifest very early during childhood and generally speaking, the earlier the disease manifest more severe. The courses Dr Day. Is there a screening? Is there any way to tell what's going to happen down the line? Obviously, we recommend screening as soon as it's recognized that somebody carries a genetic mutation or has a family member that carries a genetic mutation during childhood, typically at least once a year. If there are no manifestations of the disease at the time of initial screening and then later into adulthood, it's all very much individualized, so we don't have a specific rule for how often and in what manner, people should be screened. It depends ah, lot on the condition itself and the individual family. So then, do you screen family members? Absolutely. So it's very important to provide care to the family, and not just to the individual who is affected because we know the pattern of inheritance and families. So, for example, if Dr Owens air seeing a patient in clinic and they have three Children, say their ages 6, 10 and 14, and we know that 50% likelihood for each child who have inherited a genetic mutation from their parent, then we would recommend either genetic testing if we have the genetic information for that particular family. Or we would recommend clinical screening with typically testing that includes electrocardiograms and echocardiograms and sometimes additional testing beyond that. And then we refer those Children to our colleagues over at shop in the pediatric side, or to a pediatrician in their local area, depending on where they live. Dr. Owens, while we're talking about structural changes in the heart or cardio myopathy, can you tell us the difference between familial dilated and hypertrophic cardio myopathy? Sure, the difference between familial dilated cardiomyopathy or D C. M. and hypertrophic cardiomyopathy, or HCM, really comes down to the underlying structure and function of the heart. Dilated cardiomyopathy results in AH weakened heart muscle with dilation of the left ventricle and a reduction in systolic function or contract. I'll function in the hypertrophic cardiomyopathy. What we see is asymmetric hypertrophy, usually of the left ventricle, resulting in hyper contract il ity and often very abnormal diastolic function. Although the structure of the heart is very different in these two conditions, some of the symptoms could be the same, with patients reporting breathlessness, exercise intolerance, an journal symptoms, palpitations and even in some cases think could be heart failure and the risk of sudden death. Thank you for that answer. And Dr Day, as Dr Owens was just giving us some of the clinical presentations Tell us a little bit about what you do if someone comes to you with some of they present with any of those symptoms that Dr Owens just mentioned. Tell us what you would do and assess for a specific treatments that you would use once you detect what's going on. So the diagnosis sometimes can be challenging because Dr Owens said, patients present with the constellation of symptoms that could be similar across different conditions. We get clued into a diagnosis by evaluating a bunch of different pieces of information. For example, we're going toe. Always start with a thorough history and physical examination. In this case, the family history is really important because that will give us clues about the specific conditions that run in the family and also what the pattern of inheritances and on the physical exam, there may be some characteristic features, like a heart murmur, for example, that could clue us into particular diagnosis. And then, typically, the next piece of data that we get is an E K G, which is often abnormal in the presence of different heart diseases. It's abnormal in different ways, but it's often abnormal in some way. And then for the card, um, apathy. Imaging of the heart is obviously critical tool. We usually start with echocardiograms to characterize the size of the heart wall thickness and ejection fraction or contract il ity of the left and the right ventricle. And then sometimes we move to a cardiac Emory to provide a little bit more information. In addition to the structure and function also the characterization of the heart muscle, how much scar there is, where the scarring is etcetera now, as far as treatments those very considerably across the different diseases. So for someone who is asymptomatic and has a mild form of the disease, they may not need any treatment at all, but rather just regular surveillance and testing that we were talking about earlier. Now, in many patients, medications will be used to alleviate symptoms or improve the left ventricular function. These classes medications include beta blockers, calcium channel blockers, ACE inhibitors, angiotensin receptor blockers and then some of the newer drugs, like Never Listen inhibitors as guilty to inhibitors. And there's also a new class of drugs called miocene modulators and a drug called MAVI. Camped in within. This class has shown significant promise in clinical trials for patients with obstructive hypertrophic cardiomyopathy. Beyond medications, some patients might need a catheter based procedure, maybe to treat atrial fib relation or ventricular tachycardia. Or they may have obstruction of blood in the outflow tract. For example, if they have hypertrophic cardiomyopathy, then a catheter based procedure called in alcohol. Septal ablation can sometimes be used to treat that some patients might need surgery, which could include a septal myomectomy for patients with HCM, an outflow tract obstruction or even heart transplantation in patients with very advanced heart failure and then the prevention of life threatening arrhythmias is also a really key component of treatment of all of these patients and devices called implantable defibrillators may be recommended in some patients. And then finally, we always stressed the importance of a healthy lifestyle. So not smoking, not drinking alcohol to excess, maintaining healthy body weight and getting regular exercise. Dr. Day, Another group of inherited heart disease, is caused abnormal heart rhythms, but typically no changes in structure or function of the heart. Muscle described those and while you were telling us about the others, tell us about thes and how they're treated. This group of disease is inherited. Arrhythmia is also known as channel apathy because they affect the way that ions like sodium, potassium and calcium moving in and out of cells through designated channels. So the most well known of this group is called long QT syndrome. They can all lead to life threatening arrhythmias, although often by different triggers. So some of these patients arrhythmias make her arrest or while they're sleeping. In other times, they may occur with physical exertion or with startling reflexes. Fortunately, most are treated effectively with medications, particularly beta blockers and rarely implantable defibrillators are used If the charisma is a refractory to medications. Dr Owens tell us about the services at the Penn Center for Inherited Cardiac Disease. Tell us about the physician services. Describe some of your highlights and features at our center for inherited chronic disease. We offer really a comprehensive range of services and access to specialists for patients with these inherited heart conditions and, importantly, their family members. We do both consultation of and lifelong longitudinal care for patients who either have disease or are at risk of developing disease, For example, we consult with specialists and work in a multidisciplinary team including electro physiologist, interventional cardiologists, image ING specialists, lipid specialists, heart failure, cardiologists, sports cardiologists, genetic counselors and geneticists, cardiac and vascular surgeons, maternal fetal medicine and high risk O b. G, y n psychiatrists and social workers. We also have a well established joint program. Is Doctor Day mentioned earlier with our partners at the Children's Hospital of Philadelphia to care for the entire family. That's certainly a very multi disciplinary approach, Dr Owens and once accepted for referring physicians. What's the communication like with referring physicians? And what can the patient family expect? The support services that you offer and how they're working with that multi disciplinary team? We try to make it a Z Z is possible for the patient when they come to the center and also for the referring physician. After we provide our consultation, we start with developing a detailed plan for the day of the visit for the patient and any family members that they choose to bring with them. This is laid out in a night honorary. That gives them an idea of when they're gonna have their testing, when they're going to meet with the physician or the nurse practitioner and when they're going to meet with our genetic team. And importantly, they're invited to bring any family member either virtually or in person that wants to be present to hear the conversation. We know that because these conditions air inherited is very important for the whole family to be involved. We offer same day consultation if needed, with a member of the electrophysiology team with a member of the surgical team or the interventional cardiology team again, if we can identify in advance, that's what the patient needs. After the consultation, we typically give the referring physician either a call or send a letter, hopefully in a timely fashion that lays out what our thoughts were about the patients and the plan of care. And we try to do this in a shared care model, meaning that both the referring physician and also any pen physicians and specialists are really working together to provide the best plan of care for that patient and their family. Doctor Day. Tell us about any current or emerging therapies for inherited cardiac disease. Are there any game changers tell us about something you're doing at Penn Medicine that other providers may not know about? That's a very timely question. I mentioned earlier that there is a new class of drugs called Mayas and modulators, and these drugs have shown a lot of promise in clinical trials in patients with hypertrophic cardiomyopathy. Hen has been instrumental in enrolling patients in these trials, and Dr Owens is the site investigator for trials that have already been published and also those that air actively enrolling. So what these drugs dio is they bind to the hearts primary muscle motor called Matthiasson. This is the molecular motor of the heart muscle cells, and in doing that, it dampens down the contraction so it inhibits the turnover of 80 p, or energy utilization. And what that does is it just very slightly reduces the forcefulness of contraction the heart, which in hypertrophic cardiomyopathy can actually be too forceful. And that could cause left ventricular outflow. Tract obstruction, which causes significant symptoms in many patients and typically leads to the need for medications and often an alcohol septal ablation or surgery called my ectomy, collectively called sector reduction therapy. So I think that this is really an exciting development because it's the first drug that's ever been developed specifically to treat patients with hypertrophic cardiomyopathy. And previously we've just borrowed things that have been used for other conditions, so that I think, is probably one of the most significant advances that's been made in the field in a long time and stars other things we're doing here at Penn Medicine and elsewhere. There's a lot of interest in translating basic discoveries from scientific experiments for example, in pre clinical models of hypertrophic cardiomyopathy or dilated cardiomyopathy into clinical practice. So it's a really exciting time to be in the field. And it's exciting time to see scientists and clinicians working together to develop new treatments for these diseases and Dr Owens as we wrap up. When should patients be referred to an inherited cardiac disease specialist and tell other providers what you'd like them to know about the Center for Inherited Cardiac Disease at Penn Medicine? It's important for any patient who's diagnosed with one of these inherited heart conditions, either cardio myopathy, arrhythmia, lipid disorder, a or top of the to be evaluated at a center that focuses on these conditions and specializes in them. That's the best way to provide comprehensive cutting edge care to patients and their families. So I would suggest as a referring physician, if you diagnose one of your patients with these conditions, toe, offer them a consultation at the center and again that could be a one time consultation, just a set things on a path do any necessary genetic testing and familial screening, Or it could be for more comprehensive, longitudinal care of complicated patients that need specialized treatment that can really only be offered at a tertiary care center like Penn Medicine. Thank you, Dr. So much for joining us today and sharing your expertise and telling us about the Center for Inherited Cardiac Disease at Penn Medicine to refer your patient to the Center for Inherited Cardiac Disease at Penn Medicine, please visit our website at penn medicine dot org's slash Refer or you can call 877937 pen for more information that concludes this episode from the specialists at Penn Medicine. Please remember to subscribe rate and review this podcast and all the other pen medicine podcasts. I'm Melanie Coal.
