Cover Story | Before 1940, more than 90% of infants with complex congenital heart disease died well before reaching adulthood. Since then, advances in cardiology and cardiac surgery have led to a complete reversal of that sorrowing statistic, with more than 90% of these infants surviving to the age 18, even patients with complex disease.¹ For example, snowboarder Shaun White—who won Olympic gold medals for snowboarding in 2006 and 2010—had surgery for tetralogy of Fallot as an infant. He and hundreds of thousands of other infants, with a variety of congenital conditions, have benefited from major developments in clinical care over the last couple of decades; babies whose conditions greatly limited their lifespans or at least their quality of life are now successfully treated and growing into adulthood. Indeed, the prevalence of survivors with highly complex heart disease increased from 1985 to 2000, and now 49% of individuals with severe congenital heart disease are adults. Not surprisingly, the number of older adults above age 65 years with ACHD (geriatric congenital heart disease) is also rising, with admission rates increasing by 30% for this group of patients over the past 10 years.

Jane Somerville, MD, is an emeritus professor at Imperial College, London, and a pioneer in the field of congenital heart disease. During her storied career, she said, what has changed the most is the development of pediatric cardiology and the advanced surgical care now available for patients with congenital heart disease. “This has completely revolutionized the prognosis of congenital heart disease,” said Professor Somerville. “So instead of 60 to 65% of infants dying who are born with (congenital) heart disease, they now mostly live to reach adolescent and adult lives.”

In talking with CSWN, she quickly added, “But there are a lot of patients out there who are not being treated and people are having a go at them—surgeons, physicians, cardiologists—and it’s a bad reflection on your health service. What is left to do for this country (the U.S.) is to get yourselves organized. Establish more centers of care so that these people on whom so much care was lavished in the pediatric period and infancy and are made to survive, someone continues to look after them when they need it. It’s no good making them live more than half their lives being badly cared for.”

It was at ACC.12 when we talked to Dr. Somerville. Some of the issues she addressed then are improving, but these patients remain a challenge – and will become even more so in the years ahead. At the ACC’s 2015 Cardiovascular Summit, Michael Landzberg, MD, medical director of the Boston Adult Congenital Heart Group at Boston Children’s Hospital said, “It used to be simple: we took care of kids who were blue, we took care of kids who had restricted hearts, kids who were missing chambers inside their heart or chambers that were screwed up left to right; but, somehow, we managed to get blood to where it was supposed to go. And that was it. But today, these kids have grown up and they live in reality and that reality is COPD (chronic obstructed pulmonary disease), obesity, diabetes, atherosclerosis, stroke, inflammation, and cancer. And we need a real team to take care of these patients.”

Crashing Wave

If ACHD spells trouble, one solution that continues to gain ground since our conversation with Dr. Somerville is the growing emphasis on team care (see the February CSWN cover story on the seismic changes in health care). In this setting, team care is critical because ACHD patients are only going to present greater difficulties in the treatment arena in the coming years. Given that many of the advances in treating congenital heart disease have been made in the last 2 decades, the greatest proportion of individuals with ACHD are still fairly young thus far (mean age: 31.7 years). However, ischemic heart disease typically shows up in these individuals a decade or more sooner than their peers without congenital heart disease. As alluded to by Dr. Landzberg, this means a wave of people will soon be seeking care for ischemic heart disease complicated by underlying congenital anomalies.

He urges hospitals to develop an ACHD center because such centers reduce mortality. About a decade ago, guidelines endorsed specialized care for ACHD patients who require follow-up. Within the next few years, a larger proportion of patients were being referred to specialized centers. When investigators subsequently studied the Quebec Congenital Heart Disease database (n=71,467), mortality was significantly reduced for those referred to ACHD centers compared to patients who were not referred (FIGURE).² This effect was predominantly driven by people with severe congenital heart disease (HR, 0.38; 95% CI, 0.22-0.67). “It’s unclear whether it is the specific physicians or the use of teams,” said Dr. Landzberg, “but whatever it is, there is something about these centers that seems to save lives.”

He lists the critical program strategies necessary to develop an ACHD team with the pneumonic GOLDEN:

• Goals – Patient-centered outcomes with a strong, charismatic ACHD clinician as team leader.
• Organization – Collaborative multidisciplinary—even ‘disparate’—team (imaging, catheterization-based diagnostics, critical care, pulmonology, electrophysiology, genetics, and sometimes many more).
• Leadership – Establish key ACHD program stakeholders and champions.
• Diagnosis – Diagnostic coding remains the foundation for improved data collection and reimbursements.
• Engagement – Keep patients and families engaged and the team expertise-focused and innovative.
• Novelty – Patients and families are drawn to innovation in care and practice.

Indeed, since late 2012, the American Board of Medical Subspecialties (ABMS) has recognized the practice of collaborative care as the key distinction setting ACHD apart as a subspecialty from the rest of cardiology. (As of 2015, exams for ACHD certification will be given for the first time. Interestingly, as Dr. Landzberg explains, ABMS previously had voted to not add any more subspecialties in cardiology. Severe heart failure and electrophysiology were going to be the last subspecialties; but, in fact, ABMS rescinded their statement, recognizing that congenital cardiology needed to be a separate field). According to Dr. Landzberg, the collaborative process is hindered by “the fact that most hospitals exist ‘in thin air’” –meaning that the process of developing interdepartmental programs requires connectivity, trust, and transparency, things that too often remain goals rather than reality. “To be clear,” he said, “at the end of the day, it is data, quality, and dollars that convince everybody.”

Yet the express lack of data continues to be of concern. At the 2013 ACC Cardiovascular Summit, Robert M. Campbell, MD, chief of cardiac services at Emory University School of Medicine, Atlanta, said, “There is a huge spectrum of congenital heart defects, but patient volume is low, the patients much more heterogeneous. So, when it comes to having evidence-based physician performance measures for quality and outcomes, we don’t have them. It seems daunting and scary to me as a section chief that we may end up without quality measures. We won’t be able to demonstrate best practices or outcomes because we haven’t sat down as a profession to define it. We need to pool our data so that we can define what’s best: what’s quality and what’s value?”

The Impact of IMPACT

Two years later, Dr. Campbell and others are starting to see some very early answers to those questions. The ACC’s IMPACT Registry^® assesses the prevalence, demographics, management, and outcomes of pediatric and ACHD patients. As of January 2015, there were 95 centers participating in IMPACT with a total of 45,000 patient records so far, which will help set national benchmarks for diagnostic and specific interventional procedures.

Just published, the initial report analyzed data, procedural characteristics, and adverse events for 19,797 procedures entered into the IMPACT Registry from January 2011 to March 2013.3 The results provide critical baseline data relating to contemporary community practice, procedural outcomes, and safety for six common congenital interventional procedures: device closure of atrial septal defect (ASD); device closure of patent ductus arteriosus (PDA); pulmonary valvuloplasty; aortic valvuloplasty; coarctation of the aorta angioplasty and stenting; and pulmonary artery stenting. The initial findings offer opportunities to compare individual center results and historical single-center and multicenter results.

In an accompanying editorial comment, Dr. Landzberg noted that the paper, written by members of the IMPACT steering committee, “confirm[s] that the congenital cardiology field has matured and come of age and can now tackle some of its most difficult questions relating to outcomes, quality, and worth.”⁴

One challenge: Dr. Landzberg emphasized that IMPACT collects data largely from pediatric congenital heart disease centers. He wrote, “It has long been recognized that a large (if not major) percent of surgical and catheter-based interventions in adults with congenital heart disease … are performed by physicians not identified as congenital heart disease specialists and not necessarily in conjunction with congenital heart disease specialty care teams.” Only by incorporating all internal medicine cardiology practices into IMPACT, he said, will the totality of real-world practice of interventions for young and older adults with congenital heart disease be recognized.

“The call to action is here and now,” Dr. Landzberg added. “IMPACT has begun the task. Failure to complete it is unacceptable.”

That’s the big picture. Now let’s look more closely at the patients.

Active Young Adults

Given the relatively young age of this ACHD population, pregnancy is an important issue. The natural cardiovascular (CV) changes associated with pregnancy can be exacerbated in women with ACHD. These young women with ACHD are at higher risk of death, heart failure (HF), arrhythmia (especially supraventricular), stroke, or other CV pregnancy-related complication.

Despite the challenges, many of these women choose to have families; indeed, the Euro Heart Survey shows that their pregnancies occur at a higher rate than for age-matched peers in all ACHD diagnostic groups except for Eisenmenger and cyanotic patients.⁵ The good news: the vast majority of women with structural or ischemic heart disease can go safely through pregnancy and delivery as long as adequate pre-pregnancy evaluation and specialized high-quality care during pregnancy and delivery are available.⁶

Indeed, at AHA 2014, Robert M. Hayward, MD, and colleagues expressed surprise at evidence that pregnancy complication rates were not nearly as high as expected in women with congenital heart disease. They analyzed medical records of more than 2.7 million women who gave birth in California. Among this group, 3,218 women had non-complex congenital heart disease and 248 women had complex congenital heart disease. They found:

• Reports of HF, arrhythmias, and cardiac arrest were low for all three groups of women.
• In-hospital death rates were not significantly higher for women with complex congenital heart disease.
• Women with complex congenital heart disease were more likely to undergo cesarean section and spend more time in the hospital (on average 5 days) compared with women with non-complex congenital heart disease (3.4 days) and women without congenital heart disease (2.5 days).
• A history of congestive heart failure was more common in women with complex congenital heart disease (8.1%) versus women with non-complex congenital heart disease (2.6%) or women without congenital heart disease (0.08%).

Dr. Hayward, lead author and a cardiac electrophysiology fellow of the University of California in San Francisco, said he and his co-authors were pleased to find the risk of complications lower than expected. “While we don’t know why these women have longer hospital stays,” he said, “it’s possible their doctors are keeping them admitted for extra observation.”

An even larger group of young people who will need CV care or, at least, good follow-up, is the growing number of young athletes with congenital heart disease who still want to participate in sports and don’t take kindly to being sidelined when they feel fine. It is understandable to think these young people should just be prohibited from play, but that’s not realistic and certainly not reality. At ACC.14, Peter N. Dean, MD, Children’s National Health System, Washington, DC, and colleagues presented the results of a survey of 177 teens and young adults (to age 30 years) who almost evenly fell across the spectrum of mild to moderate to severe congenital heart disease. Of the cohort, 52% reported participation in competitive sports, 25% recreational sports, and only 23% reported no sports. Even among those with severe congenital heart disease, 29% reported participating in competitive sports that would be restricted by published guidelines (36th Bethesda Conference). After controlling for age, sex, heart disease severity, residual hemodynamic disease, and comorbidities, participation in competitive sports and increased frequency of physical activity were strongly and independently associated with a higher quality of life (p = 0.003 for competitive sports and p = 0.001 for recreational sports). The study, now online ahead of print, also found that both of the active groups had greater exercise capacity and lower body mass index compared to those reporting no sports activity.⁷ Whether consciously aware of it or not, for these young people, competitive and recreational sports is a quality-of-life issue and it’s difficult, if not impossible, to imagine they will abide by current guideline restrictions.

At the ACC’s 2015 Sports Cardiology Summit, Robert W. Battle, MD, team cardiologist at the University of Virginia, Charlottesville, gave one example of what you might come across in your office: a 22-year-old female with pulmonary atresia and intact septum, a hypoplastic right ventricle, and a Fontan fenestration closed in 2003. Today, saturation is 95%, normal Holters, good left ventricular (LV) function by echo, and no clinical history of arrhythmia, HF, or thromboembolism. She has a question: “Can I be a triathlete?” The Bethesda guidelines suggest severe restrictions following a Fontan operation.⁸ According to Dr. Battle, “The guidelines suggest ping-pong and she wants to be a triathlete!”

It’s not just patients who have undergone a Fontan operation, either. Back in July 2013, ACCEL featured an interview with Michael John Ackerman, MD, PhD, who argued that current guidelines for determining eligibility for sports among young athletes with heart disease can be boiled down to ‘tell them all no.’ As a participant and co-author of the 2005 ACC Bethesda Conference Report on the topic, Dr. Ackerman said that both the US⁹ and European guidelines¹⁰ relating to sports participation say essentially say: “Unless your heart is perfect or the syndrome is confined to just your genome … no competitive sports except perhaps Class 1A sports.” In case you’re wondering, examples of Class 1A sports include billiards, bowling, cricket, curling, golf, and riflery. Notice that triathlons are not on that list.

Silvana Lawrence, MD, PhD, Baylor College of Medicine, Houston, explained the reasoning behind the guidelines:

• There is a need to guide sports participation in individuals with CV conditions.
• The recommendations were based on sound published data available at the time, as well as expert opinion and both individual and collective judgments.
• There is an increased risk of sudden cardiac death during intense athletic participation and this is deemed a controllable risk factor.
• High profile cases have raised awareness of the medico-legal implications of decision making.

Dr. Ackerman’s own work at the Mayo Clinic has demonstrated that athletes and their families are fully capable of self-disqualification.¹¹ That’s what Dr. Battle finds, too. As for his young patient who wants to be a triathlete, he said, “It doesn’t matter what we think because she is already a legitimate triathlete: she can swim a mile in under 30 minutes and run a mile in less than 9 minutes.” Dr. Battle quickly added, “In highly fit competitive athletes, training history trumps a lot of things,” so in the case of a young person with congenital heart disease who “has a super engine and is super fit, don’t look at your objective data and try to condemn this person somehow or some way.”

He advised talking to the patient (and parents of younger teens), probably several times, making sure they understand the risks, but in many of these competitive athletes, Dr. Battle said, if you disqualify them “they will disappear in a heartbeat” and then no one will be following them. Recalling a young elite athlete with varying degrees of aortic stenosis his entire life and pressure-related LV hypertrophy, he said, “I saw him in the clinic last week and the only reason he’s coming back to see me now that he’s 18 years old is because we worked hard and tried to help him with his life, because otherwise he would be gone completely gone, lost to follow-up.”

Given the pandemic of physical inactivity in the 21st century and epidemic of childhood obesity, Dr. Lawrence said, “It must be our mission as cardiovascular professionals to nurture physical activity and safe regular exercise participation for all.” Are the current guidelines still relevant? Yes, she said, they are. However, she added that relevancy does not diminish the pressing need for revisions given new advances in genomics, evidence of a natural history in patients that challenges the present guidelines, more data on exercise performance in patients with coronary heart disease, and an expanding population of adults with congenital heart defects.

Dr. Lawrence is getting her wish: sometime in 2015 there will be a revision of the 36th Bethesda Conference Report that addressed sports and activities, including patients with congenital heart disease. (The document will be called AHA/ACC Eligibility and Disqualification Recommendations for Competitive Athletes with Cardiovascular Abnormalities.) As for Dr. Battle, he said cardiologists have accepted the current “don’t play/restrict role” of many guidelines relating to sports and exercise but added that they are “philosophically inconsistent in many ways.” In fact, Dr. Battle said, there are few, if any, data supporting withdrawal from sport for the prevention of sudden death/sudden cardiac arrest. We accept risk in all aspects of life, he said: mountaineering, racing cars, texting and driving, scuba diving, etc. You can quantitate risk and tell a patient with Eisenmenger’s syndrome not to get pregnant but you can’t enforce it. You can’t quantitate risk but you can tell a young adult with ACHD not to play sports – and in many arenas you can enforce that – but Dr. Battle asked: “Are we more worried about ‘our risk’ than the patient (and their families’) risk?”

Is There an ACHD Surgeon in the House?

So, there has been real momentum since Prof. Somerville addressed her concerns regarding the care of ACHD patients in the United States. She also cited a critical problem here that continues to vex Europe, too: “The new problem we have is this: it is very worrying that when (congenital heart disease patients) need surgery, they are really difficult cases; are you going to have cardiac surgeons to manage congenital heart disease across the age span because that requires special knowledge.” In Europe, Dr. Somerville said, there continues to be a shortage of cardiac surgeons specializing in ACHD.

The same may be true in the United States. In a paper just published online ahead of print, investigators sought to determine whether a sufficient number of programs are available to train specialists to meet the needs of the ACHD population.12 They sent surveys to 225 adult and pediatric cardiology fellowship programs to determine the current status of ACHD curricula and training programs. Of the 81 responders (36%), fewer than one-third (29%) reported having an ACHD fellowship program. Half of those who did reported an increase in applicants to their fellowship, but “lack of institutional support” was considered the greatest obstacle to ACHD training. The authors said their results “demonstrate a deficiency in the number of currently available ACHD fellowship programs.”

Until more specialists get trained, Dr. Battle addressed the provider gap in ACHD by stating that adult cardiologists will have to get used to asking others for help—specifically pediatric cardiologists. Dr. Battle, himself an adult cardiologist, said: “Historically, because they were so restricted in what they do, (pediatric cardiologists) did not even come into our consciousness. In ACHD we have a paucity of providers and in sports cardiology we are going to have a paucity of providers unless pediatric and adult congenital heart disease specialists step up to the plate and come together to figure this out.”

It’s really the data driving this, and not just the data showing a lack of experienced surgeons to handle ACHD. Investigators analyzed more than 40,000 ACHD operations and compared outcomes based on whether the surgery was performed by a pediatric or non-pediatric surgeon.¹³ In-hospital death rates for ACHD patients operated on by pediatric heart surgeons were significantly lower than for ACHD patients operated on by non-pediatric heart surgeons (1.87% vs. 4.84%; p <0.0001). The results led the study authors to suggest that ACHD patients “be encouraged to obtain surgical operation by PHS (pediatric heart surgeons).”

Sometimes, you have to pivot as a cardiologist, and the growing needs of the ACHD population may be one necessary pivot point. As Dr. Landzberg put it at ACC.14, congenital heart disease is a lifelong process with both backward and forward reflections. He cannot think of another area of cardiology where you spend so much of your life with your patients and their families. Unlike heart failure, where the doctor-patient relationship spans only a limited slice of time with individual patients, Dr. Landzberg spends an entire life with a patient with congenital heart disease, albeit facing different struggles, different physiologies, changes in anatomy, and changes in patient quality of life. And, because it is a lifelong process, Dr. Landzberg said, it’s important to be involved with pediatricians, geriatricians, and with every aspect of general internal medicine and all the medicine subspecialties. “If there is one thing that defines our field,” he said, “it’s this sense of communication and collaboration.”

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References

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12. Nguyen LT, Maul TM, Hindes M, Daniels CJ, Gurvitz M, Cook SC..et al. Am J Cardiol. 2015 Feb 3. [Epub ahead of print].
13. Karamlou T, Diggs BS, Person T, Ungerleider RM, Welke KF.et al. Circulation. 2008;118:2345-52.

Keywords: CardioSource WorldNews, ACC Publications

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