An Overview of congenital heart disease prevention and treatment

 

“2020 ESC Guidelines for the management of adult congenital heart disease” emphasizes lifelong management of patients with congenital heart disease. This journal specially invited Professor Julie De Backer of the Ghent University Hospital in Belgium,one of the authors of the guidelines,to conduct in-depth discussions on related issues
 
International Circulation: Congenital heart disease is one of the most common birth defects and a serious threat to human health worldwide. What do you think is the key measure of its prevention and treatment?
 
 
Julie De Backer:By definition, congenital heart disease is structural heart disease that is present at birth, so if you want to screen properly, you should consider starting screening even before birth. Especially for the more severe forms of structural congenital heart disease (and I am thinking of single ventricle situations), fetal ultrasound can definitely help us to screen for those cases, even in a prenatal setting. Even more mild forms of congenital heart disease can be detected if properly done, so I think fetal ultrasound has become one of the main screening methods for congenital heart disease.
 
Of course, you need to have proper strategies for dealing with what you find, and issues of interruption of pregnancy need to be discussed and well-communicated to the patients, taking into account cultural and other backgrounds that you need to consider. So that is what you need for screening from the beginning.
 
Other than that, later in life, for people who are born with congenital disease, it is very important to know that most of these patients, even with mild lesions, will require lifelong follow-up, meaning that they should be made aware of the fact that they need lifelong treatment and follow-up, and that they are not lost to follow-up. In many regions, that is an important issue. Many patients will have follow-ups during the pediatric stage, but once they are adults, there is a risk that when they need to move on to adult facilities, they get lost, and their care is not continued. That is a risky phase, and there really needs to be proper transition programs to avoid loss to follow-up, because people that present in later stages will often present with severe sequelae that may have been avoided if they had earlier checkups.
 
So, in the context of screening, I think fetal ultrasound, and then, every physician seeing a patient who has obvious signs of heart failure or cyanosis or has murmurs that cannot be explained need to be referred to proper physicians for further screening. So for screening and prevention, I think these are the most important issues - fetal ultrasound and proper transition programs,so patients cannot escape from follow-up.
 
 
International Circulation: How can we do better in its screening？
 
Julie De Backer:As I mentioned, I think in screening it is the awareness of the general population obviously,  but especially awareness in the medical community and healthcare providers. I don’t know how fetal ultrasound is structured in the Chinese region, but in the Western European region it has become one of the basic exams during pregnancy - all women will undergo fetal ultrasound, specifically looking at the heart and the structures of the heart. That is something that needs to be implemented in follow-ups for pregnancy. With regard to screening of children, there are red flags that need to be known by physicians who treat babies and children,such as murmurs, cyanosis and signs of heart failure need to be referred.
 
The tricky phase of transitioning from pediatric to adult care needs to be well managed and well prepared for. It is often at this stage, in moving from pediatric services to adult services, that patients get lost. In some countries and regions, there are active screening programs in the adult population to recover patients who have been lost to follow-up. An even better strategy is to prevent this and have programs that will be active from the pediatric phase onwards. If you don’t have these transition programs, then I think active screening programs again with red flags for adults, allows physicians, cardiologists, pulmonologists and others, whoever encounters patients who have unexplained fatigue or signs of heart failure, should arrange proper evaluations. Again, this can be avoided if proper transition takes place.
 
 
International Circulation: Would you please talk about the current status of congenital heart disease screening in your country?  And what are the main problems ?
 
Julie De Backer:In my country, Belgium, the subset of patients that are lost to follow-up is very low. Belgium is a very small country. Compared to China, it is microscopic. We don’t have long distances that patients need to travel to get to a center with proper care. I fully realize that this is a big advantage that we have. We have very few cases that are lost to follow-up. Patients will usually transition well from pediatric to adult care facilities.
 
The problems that we are facing are mainly related to the aging of the patient cohort. Patients are getting older, and also encountering acquired heart disease and other medical problems that need to be dealt with. We see increasing numbers of patients with corrected or repaired congenital heart disease who have arrhythmias as an important problem. People from the electrophysiology (EP) lab and people dealing with arrhythmia need to be aware of congenital heart disease, and what they can and cannot do, and what needs to be taken into account with patients with congenital heart disease. You will not always directly move to interventions or device placements. You also have to take the hemodynamic aspects into account. So you need to properly train electrophysiologists to deal with these patients.
 
We have increasing numbers of patients presenting with heart failure, so with more people getting older, we have large cohorts of patients that get into a situation of heart failure. We all know that conventional optimal treatment of heart failure where we have guidelines for acquired heart disease do not always apply to patients with congenital heart disease. That is a big problem, so patients with congenital heart disease have often been excluded from large trials, so there is few data, often only small, single center studies. We really need to make sure that we have collaborative efforts where we can address this properly.
 
In the end stage of heart failure, there is the issue of transplantation. Heart transplantation is the only way out in some of our patients. But we all know, and I think this is a global issue, there is a big shortage of donors. Very often, transplant centers will be inclined to not accept patients with congenital heart disease because there are often more complex anatomies. Also, it is known that the long-term outcomes of heart transplantation in these patients is much better than in the general transplant population, but there is a steep decline in the early phases related to technical issues. This is why some people will be reluctant to accept a patient with congenital heart disease for transplant, which is a pity because often these are young patients who should get that type of care.
 
Without going into the details, there are many patients who will not only have a failing heart, but also a failing liver or failing lungs associated with their heart failure, and combined organ transplantation is needed, which obviously makes the procedures much more complex. That is a growing cohort of patients that we see moving towards end stage heart failure, and there we need proper programs with transplantation, but not only transplantation.
 
I think it is very important that we have proper advance care planning programs, and that we offer that to all our patients so we can give them a proper view of the future, and that they have a realistic idea of what is to come. This takes time. Having advance care planning talks with patients takes a lot of time, and this is something that is often not well received by our hospital directors, who want us to see a lot of patients in a short time course, because there are financial issues related to that. But we really need to talk with our patients, and if that needs time then we need to take that time. It would be nice if the directors would be made aware of these issues and acknowledge that we need not only time, but also personnel to tackle those difficult discussions.
 
 
International Circulation: Interventional therapy of congenital heart disease has developed rapidly in recent years. Would you please talk about the important achievements that we have been made in this field?
 
Julie De Backer:Interventional cardiology procedures are gaining importance, this is also the case in congenital heart disease. There is a lot more evidence, for example, for stenting in the setting of aortic coarctation, which is the main treatment modality in adult patients presenting with coarctation.
 
There is a lot of progress there with the covered stents that are now routinely used, and giving very good long-term results. That is one example. There is obviously pulmonary valve replacement where percutaneous techniques have gained importance, and where we can move to valve replacement at an earlier stage than what we would do in the case of surgery.
 
There is good progress being made there also for treating native pulmonary outflow tracts with percutaneous techniques, so this is another example. Other examples include ASD (atrial septal defect) closure where recent studies have indicated that even in the setting of a sinus venosus ASD, which used to be a surgical indication and where percutaneous treatment was not feasible, there has been some evolution and there are techniques to treat these patients by percutaneous ways.
 
Obviously, the aortic valve replacement (TAVR) techniques have evolved, and are gaining importance also in the younger population. There are good results in patients with bicuspid aortic valves, for example, and I am sure that in the future, these techniques will gain importance over the surgical procedures. Of course, there is the clipping of tricuspid valves. Tricuspid valve disease is common in congenital heart disease, and I think the development of these techniques is moving very fast and giving us some promising prospects for the future.
 
 
International Circulation: Looking into the future, how do you think about the development direction and prospects of the prevention and treatment of congenital heart disease?
 
Julie De Backer:I have already mentioned a lot of the points that are important for the future, but I just want to maybe summarize some of them again. I think, for the future, as I mentioned, transition programs need to be formalized and installed into every center dealing with patients with congenital heart disease. Along with that, the modalities for advance care planning in these patients need to be properly installed. There need to be strict strategies for advance care strategies with the patients. They need to be well organized, not only with physicians, but also psychologists and social care workers who can help deal with the problems that these patients face.
 
Regarding heart failure, there is a clear need for collaborative efforts to study the effect of heart failure treatment in patients with congenital heart disease. We need a global effort there. We need large international trials where many patients can be included, and where the effects of these treatments can be properly tested.
 
I also mentioned the aspect of aging. Aging, and all the disease issues that come with aging - acquired heart disease, but not only heart disease - need to be addressed, and we need to be aware of the growing aging congenital heart disease population that, even more than the general population, will have problems with heart failure. We need to have strategies for proper management of this growing group.
 
I think that in the future, the integration of data coming out of genetic studies will be important. Genetics are gaining much importance in the setting of congenital heart disease. The genetic background, which is often not monogenic, but oligogenic, of these diseases is better known now than a few years ago, and will get better known in future years.
 
From there, knowing the genetic background, we will be able to develop more targeted treatment options. I think the integration of what comes out of larger scale genetic studies and the genetic knowledge, with techniques including artificial intelligence and looking at imaging data, will definitely help us in the future. This may sound a bit science fiction-like at the moment, but I do think that we are already entering that stage of integrating large scale genetics and imaging and other data that can be acquired through artificial intelligence that will help to better diagnose and treat our patients.
 
I am a very strong believer of personalized medicine in this setting. While there are no two congenital heart disease patients that can be put into one basket, I think that every patient deserves an individualized approach, and with increasing knowledge about the background and the current status, we will move things forward leading to better treatment of our patients.