Surviving and Thriving with Adult Congenital Heart Disease

June 23, 2014

[Editor’s note: This article is an update of previously published story.]

Nearly one in every 100 babies is born with some form of congenital heart disease (CHD). In the 1950s, only about 15% of these children with severe heart defects reached their 18th birthday. Today, with advances in treatment and surgical repair, close to 90% of CHD patients reach adulthood.

This remarkable achievement, in turn, poses new challenges in the form of a steadily growing population of adult congenital heart disease (ACHD) patients. Many of these patients require ongoing monitoring throughout their lives and will require some sort of reintervention as adults to maintain their cardiac function. It is the role of the University of Ottawa Heart Institute’s Adult Congenital Heart Clinic to manage these complex cases.

A congenital defect is any malformation of the heart that is present at birth. Some of these malformations, such as a small hole between the chambers of the heart (a septal defect, commonly called a "hole in the heart"), can easily be repaired and leave few lasting consequences to a patient’s health. Others are vastly complex, such as transposition of the great arteries, in which the arteries coming out of the ventricles are reversed. This results in oxygen-poor blood flowing back into the body and requires correction within days of birth.

“There are about 20 to 30 clinical syndromes or anatomical defects that fall within the term ‘congenital heart defect.’ This makes the field quite difficult because each has its own issues in terms of the problems it causes and how to correct it,” said Luc Beauchesne, MD, who has directed the Adult Congenital Heart Clinic since 2001. While most cases of CHD are diagnosed before the age of 18, 10 to 15% come to light later in life.

This wide range of malformations can produce an equally wide range of medical consequences. While some patients may experience heart failure that can be managed with medications, others may eventually require transplantation. Some patients predominantly experience heart rhythm problems (arrhythmias). Still others receive excess blood flow to the lungs and eventually develop pulmonary hypertension. Those with heart valve problems or defects in the aorta require corrective surgery.

“Treatment for congenital heart defects really spans clinical cardiology, and each patient is different—even within a diagnosis, there’s a lot of variability in how you treat individual patients,” explained Dr. Beauchesne. Great strides have been made in surgical techniques, anesthesia, non-surgical interventions and imaging, he continued, leading to the markedly improved outcomes seen in children with CHD and steady growth in the number of adults living with ACHD.

“The thing about CHD is that no one has figured out how to prevent it. The genetics are complex and not understood, and the incidence is not changing,” said Dr. Beauchesne. A genetic component is suspected since having a parent with ACHD increases a child’s risk of being born with a heart defect from less than 1% to between 3 and 6%. But the genetic factors at play remain a mystery.

As the first generations to grow up, and often thrive, with CHD enter adulthood, continuity of care and maintaining their health over the long term can be challenging.

The Unique Challenges of ACHD Care

The first hurdle is the transition of patients from the pediatric facility, where they have so far received all of their care, to an adult clinic at a new hospital. “When they transition to a new place, the attrition rate is pretty high,” said Joanne Morin, the advanced practice nurse with the Adult Congenital Heart Clinic.

Such transitions are aided by close collaboration, as with the Heart Institute and the Children’s Hospital of Eastern Ontario (CHEO). The teams at the two institutions are closely allied. Several CHEO doctors participate in the Heart Institute clinic, bringing their specialized expertise in CHD and history with specific patients. The two organizations conduct monthly joint rounds to consult on difficult adult cases.

A concern with transitioning CHD patients, explained Morin, is that they often feel perfectly healthy, which can lead them to forgo regular follow-up care. “We try to impress upon them that, although they feel great and things are good now, down the road it may not be the case. We may see changes on your test results, we tell them, or your regular examination before you start to feel bad. We don’t want people showing up on our doorstep only once they start to experience symptoms,” she emphasized.

“One of the key messages for patients is that we have effective treatments, but the treatment doesn’t last forever for certain conditions,” said Dr. Beauchesne. “If you have appendicitis, you have surgery, and it’s fixed—that’s how people tend to think about surgery. But for ACHD, it’s different. A number of patients will have ongoing issues, and it takes a while for people to appreciate that.”

The chronic nature of ACHD care makes it vital for clinicians to keep track of their patients, but that is often difficult. “Our patients are mainly young, and they move around a lot—their addresses and their phone numbers change. Young women get married and change their names. Getting backup contact information for our patients is labour intensive but pays dividends in the long run,” Morin said.

Roughly one quarter of ACHD patients have obvious, known limitations on their physical activity, with 5 to 10% having severe limitations. For some, their conditions place them at increased risk when engaging in activities that stress the heart. A large part of Morin’s job is counseling young patients on topics such as participating in sports or choosing safer careers. Body-image issues are not uncommon, especially for patients with substantial surgical scars.

Pregnancy is another issue. Some types of ACHD, even if successfully repaired, can make pregnancy dangerous for women—the heart experiences a 30 to 50% increase in workload during pregnancy. “We work a lot with the high-risk obstetrics team at The Ottawa Hospital to determine if pregnancy is possible and to have them follow our patients through delivery,” said Dr. Beauchesne. Sometimes, women with a previously undiagnosed defect will first experience symptoms during pregnancy, bringing them under the care of the Adult Congenital Heart Clinic.

The Adult Congenital Heart Clinic

Because numbers are small for any given condition and the cases often complex, standard care maps rarely apply to individual patients. “Anyone who is slated for a procedure that involves ACHD is presented at our joint rounds. So, we don’t make unilateral treatment decisions—they’re consensus decisions. We want that, since the evidence to work by in ACHD is constantly evolving,” said Morin.

In 2002, the Adult Congenital Heart Clinic became an official institutional clinic, and since then its caseload has grown by about 200 patients per year. The clinic now follows more than 1,800 patients. “Right now, we have three clinics a week. I see it growing to eventually a clinic a day,” said Dr. Beauchesne.

In 2008, he co-chaired the development of Ontario treatment guidelines. The report recommended that the Heart Institute be designated one of two large regional centres in the province to provide leadership in ACHD care. He also co-authored the most recent Canadian Cardiovascular Society guidelines.

The clinic now has patients who are reaching their 50s and 60s. “For the first time, we are starting to see the kinds of acquired heart disease in congenital patients that you see in the general population—coronary artery disease, hypertension, heart failure,” said Morin. While this can complicate matters, it’s also a mark of how far we have come in treating congenital conditions. After all, only a few decades ago, it was a victory for a CHD patient just to reach adulthood.

ACHD Care in Canada

The Canadian Adult Congenital Health Network (CACHnet) is a voluntary network of the country’s 15 ACHD clinics, including the Heart Institute’s. Established in 1991 to pool the knowledge and experience of Canadian professionals in the field, CACHnet has made a big difference in following or transferring patients between provinces, said Dr. Luc Beauchesne. The network also plays an important role in educating specialists, including the establishment of treatment guidelines.

Factors such as geography and varying support for ACHD care across provinces mean that resources, levels of care and wait times range dramatically among CACHnet member clinics. The organization’s growing patient database allowed Dr. Beauchesne to lead the largest study of patient and procedure volumes, clinic infrastructure and staffing, and wait times across Canada for ACHD. The findings were published in the International Journal of Cardiology in 2012 and presented at the American Heart Association Scientific Sessions.

He found the results “surprising” in many ways. Out of an estimated 96,000 ACHD patients in Canada, about half are thought to require ongoing specialized care. The research showed that fewer than 22,000 patients had been seen for regular follow-up care and fewer than 28,000 were even registered at one of the 15 member clinics.

Other unexpected findings included the fact that only 27% of adult and pediatric cardiologists affiliated with the CACHnet clinics had received formal training in the management of ACHD and that in many of the adult clinics, “frontline care was provided by pediatric cardiologists because no one else had the expertise,” explained Dr. Beauchesne. Four of the centres had no dedicated nursing time and nine had no institutional clerical support.
“In spite of universal health care access, published guidelines for ACHD patient structure and process measures of health care quality are not being met,” the paper stated.

These results reflect the lack of attention that ACHD has received compared to other areas of adult cardiology: “There’s a shortage of expertise, and there’s a lack of interest in taking this on because of cost and time and resources,” commented Dr. Beauchesne. “That hasn’t been a problem here where the environment is very supportive. But there’s a lot of variability in resources and expertise between centres. We want to bring that level up for everyone.”


Joanne Morin, APN, and Luc Beauchesne, MD