Fixing damaged hearts
Congenital heart disease (CHD) – sometimes referred to as a congenital heart defect – literally means a heart condition someone is born with. Consequently, it also means a heart condition they will live with for their entire life, often requiring support and care that evolves as their health changes over time. While incredible progress in detection and treatment of CHD has resulted in substantially more people surviving and living longer, many individuals and families face a lifetime navigating a complicated and often fragmented and inequitable healthcare system.
Having CHD puts people at higher risk for a host of other heart, brain and cognitive issues. In particular, CHD more than doubles the risk of stroke and substantially raises the risk of heart failure. CHD also increases the likelihood of heart rhythm problems, coronary artery disease, depression, and anxiety.
What is CHD?
Broadly, CHD refers to abnormalities in the structure of the heart which can affect the heart’s valves, walls or chambers, and the vessels connected to the heart. These abnormalities can be identified at or even before birth and can vary in severity and may require intervention and lifelong monitoring and treatment. Sometimes a complex defect that is repaired or treated during childhood will require further interventions or treatments later in life. Some conditions are only diagnosed later in life, not requiring treatment until adulthood. Heart abnormalities are the most common kind of birth defects in children.
Dr. Luc Mertens, medical director of the echocardiography service and co-director of the pulmonary hypertension program at The Hospital for Sick Children (SickKids) in Toronto, highlights that there is a range of conditions, from less significant to very complex defects. “Luckily the majority of
Congenital heart diseas e puts people at higher risk for other heart and brain issues.
defects are fixable,” he says. As much as 25% of CHD cases are critical and require medical intervention in the first year of life.
According to the latest published data, 257,000 people in Canada were living with CHD but experts agree that the current number is considerably higher. “If we look at that latest available prevalence data and the current population, the number of children and adults in Canada living with CHD is likely over 300,000,” says Dr. Andrew Mackie, a professor of pediatrics at the University of Alberta and cardiologist at Stollery Children’s Hospital in Edmonton. And because more children born with CHD are surviving, there is a growing proportion of adults living with CHD in Canada – about twothirds of the CHD population.
Luckily the majority of defects are fixable.
— Dr. Luc Mertens
A new heart for baby Nora
When Aleasha Shorts gave birth to twins in 2016, one of her babies – Nora – turned blue just minutes later. At first, staff at the hospital in Hamilton didn’t know what was wrong, but then realized it was Nora’s heart. Aleasha could barely take it in. She had been more worried about Nora’s brother, Koa who weighed only four pounds, four ounces. Nora was rushed to SickKids in Toronto where she was diagnosed with a congenital heart disease which led to her heart being unable to pump blood properly. The doctors told Aleasha and her husband Shane: “She needs a heart transplant to survive.”
Five months after she was born, Nora received her new heart. Today this clever eight-year-old is in French immersion and takes gymnastics and acro dance classes. At the same time, bloodwork, biopsies, catheters, echo
tests, ECGs, rejection checks, psychological checks and medication checks with a multi-disciplinary medical team keeps the family on their toes.
“I do fear for her future,” says Aleasha. “But I don’t want to put any limits on her.” Despite Nora’s early fight for her life, she’s incredibly strong and capable. Outside of her appointments, school and extracurriculars, she’s an artistic, passionate girl who likes to swim, bake and play in the backyard. The twins are thrill-seekers and love water parks and rollercoasters, leaving Aleasha and Shane in awe. “We worry so much, but we never want to forget to let them live. Nora has to learn her own limits,” Aleasha says, “I want her to be proud of herself.”
Aleasha and Nora
Progress
A revolution in care for people with CHD
One statistic sums up much of the progress over the past few decades: nine in 10 babies born with CHD now survive to adulthood. This was not always the case. Since the 1970s and 80s, advances in cardiovascular care have led to an extraordinary increase in survival for infants and children with CHD. And this is a remarkable achievement as approximately one in 100 babies is affected by CHD.
Improvements to imaging has led to better and earlier detection of CHD, sometimes before a baby is born. In-utero surgery is relatively rare but does happen; more often if a defect is detected before birth the healthcare team can be ready.
“A high proportion of complex congenital heart disease is now being diagnosed prenatally, allowing us to ensure stability of the newborn and begin treatment as soon as the baby is born, or even before birth, when necessary,” says Dr. Mackie.
Major improvements in cardiac surgery in the past 60 years now allow for more complex heart repairs. Some procedures have become simpler – less invasive, easier to recover from and less dangerous. Interventional cardiology involves minimally invasive procedures to improve blood flow usually using small
1 in 100 babies is born with congenital heart disease .
tubes called catheters. This means that a catheter can be put into the heart through a vessel without cutting open the chest and stopping the heart. Although first developed for and used on adults, these procedures can now be used on children born with heart defects. Learning from decades of surgical complications, great strides have also been made to pre- and post-operative care, according to experts in the field.
Dr. Luc Mertens
The Foligno family
Like all first-time parents, NHL player Nick Foligno, now captain of the Chicago Blackhawks, and his wife Janelle were ecstatic about the birth of their first child. When baby Milana arrived in October 2013, Nick was in the middle of hockey season and was grateful to have a few days off to be there for the birth. Nick then had to travel for a game and while in transit to Detroit, the unthinkable happened. As soon as he landed Nick had a series of missed calls from Janelle. Something was wrong with Milana’s heart.
Milana was transferred by ambulance to a children’s hospital, and Nick flew back home. The diagnosis took some time to uncover. Milana had an under-developed, severely leaking mitral valve. She needed surgery to replace it but was in a catch-22: she was too small for the surgery and was too sick to achieve the growth she needed.
The Folignos learned about an experimental procedure for infants with CHD. Without hesitating, Janelle’s maternal instinct kicked in and she knew they had to try to advocate for it. Milana was declared case number 17 in the world for this procedure. “It’s just kind of crazy because that’s my number,” says Nick. Hockey fans know that number 17 is a Foligno family favourite. Nick’s father, Mike, who played in the NHL for 15 years, proudly displayed number 17 on his jersey.
Milana’s initial valve replacement surgery was successful. But there have been bumps in the road. At age five, she developed endocarditis because the valve had become infected. She then was old enough to replace the infected valve with a pig valve, but that valve eventually started leaking, and at age eight, Milana received another valve that she still has today. “It’s been a journey that’s still continuing, and she’s been so strong through it all,” says Janelle.
Today, Milana is an active 11-year-old, filling her days with basketball, gymnastics, art and fashion design. And like a true older sister, she loves spending time with, and playfully bossing around her two younger brothers. The family splits their time between Chicago during the hockey season and their hometown of Sudbury during the off-season with extended family.
Nick and Janelle are thankful for and committed to supporting heart research. “We’ve met so many families
We’ve met so many families affected by CHD, and I love nothing more than when someone who’s 75 years old tells me their story of being born with a congenital heart defect.
— Nick Foligno
affected by CHD, and I love nothing more than when someone who’s 75 years old tells me their story of being born with a congenital heart defect,” Nick says. “Their journey has helped my daughter’s journey, because science continues to advance. It’s a continuous cycle of paying it forward.”
The Folignos
More children, more adults
As more children with CHD become adults, the overall CHD population continues to grow. One Canadian study found that CHD prevalence increased by 11% in children and 57% in adults between 2000 and 2010 which is consistent with improvements in care and survival.
CHD is sometimes not identified until adulthood, if no symptoms are present. For example, some people are born with two small parts – called leaflets – in their aortic valve, as opposed to the usual three. Referred to as a bicuspid aortic valve, this anomaly is often only detected later in life when it starts to become dysfunctional and causes complications.
Health system
As more people with CHD survive and live longer, they require ongoing support and care, the extent of which can change as their health evolves. Consequently, the healthcare system needs to respond in terms of providing necessary treatment, services and other support. Not surprisingly, hospitalizations for CHD have increased over the past 20 years in Canada.
Support over a lifetime
Dr. Mertens has seen the mortality rate associated with CHD procedures plummet over the course of his career. “When I started my career in the 1990s the overall mortality rate was
about 10 – 15%, and now at my hospital in Toronto it is below 2%. We used to be focused almost entirely on helping babies with CHD survive and we have done that very well. But our next question is, how can we make them survive better – so that the disease impacts their life less?”
There are now 32 specialized CHD centres or clinics across the country with dedicated programs for people living with CHD, evenly split between adult and pediatric sites. These high-performing medical centres are staffed with multidisciplinary teams, offering a variety of services and supports.
Dr. Ariane Marelli, currently the scientific director of the Institute for Circulatory and Respiratory Health at the Canadian Institutes of Health Research (CIHR), has had a long career as a cardiologist and researcher specializing in CHD. Over this time, she has witnessed improved support for people living with CHD and their families. “They need support when they’re growing up and in school and doing sports, and then they need support in terms of getting out into the workforce, understanding their reproductive health, and understanding potential risks to their offspring. These are all things that we are able to do much better now because of increased awareness.”
Dr. Marelli continues to be inspired by people living with CHD, including their active involvement in patient advocacy, “It is really all about the patients themselves – their ability to deal with adversity, their resilience, their ability to manage uncertainty and expectations. We couldn’t do this without our patient partners.”
CHD research team grant: Precision health
Dr. Luc Mertens is leading a multi-disciplinary research project called PHUR4Life — Precision Health for patients with Univentricular HeaRts across the Lifespan, as one of three Congenital Heart Disease Team Grants, co-funded by Heart & Stroke donors, together with Brain Canada and the Canadian Institutes of Health Research. When a baby is born with just one pumping chamber (functional ventricle) in their heart instead of two, it affects their health for life. Called a univentricular heart, it is one of the most complex congenital heart defects. The key to survival is a surgery called the Fontan procedure, usually performed in early childhood. Over time, however, more than 30% of people get sick, developing what is called Fontan associated circulatory failure (FCF). Dr. Mertens and his team are examining why FCF affects some people but not others, and how it could be prevented.
Strength runs in the family
Sophie Bessette remembers the day she learned her baby would be born with a complex heart defect. Around the 20th week of her pregnancy, an ultrasound showed something unusual with her baby’s heart. “The cardiologist confirmed that she had tetralogy of Fallot,” the Montreal mother recalls. The condition affects the heart’s ability to pump oxygenated blood to the body. Sophie already knew too much about tetralogy of Fallot – she has it herself. Sophie and her partner had considered carefully before deciding to start a family including undergoing tests to ensure her heart would be strong enough to carry the weight of a baby. She was told the likelihood of her baby being born with the same condition was very low.
Sophie’s own heart condition was diagnosed after she was born. The strain on the family was significant. Sophie’s parents were constantly worried about her health. They faced financial stress due to their reduced work schedules as they made almost daily trips from their home in Quebec’s Eastern Townships to Montreal. Sophie cried constantly during those early years, exhausted from trying to catch her breath. Finally, at age three, she had surgery to repair her heart. Everything went well, but after that, Sophie’s doctors and her parents told her she needed to avoid physical activity and sports to protect her heart.
By the time she was 18, Sophie was tired of being told what she couldn’t do. She decided to ignore the advice to avoid physical activity and started running. On her next cardiac stress test, she shocked the medical team by running on a treadmill for 14 minutes. “They said I was in better shape than someone who didn’t have heart surgery. I decided then that this was going to be my way of living from now on. I felt in control of my life, and way happier.”
Mia, Sophie’s daughter had surgery at five months and may have more surgery coming. Mia is now eight and she shines with the confidence Sophie has fought to build in her. “I tell her, ‘We are warriors. You and I, we fought for our lives and we won. Our scars are proof of our superpowers and it gives us the strength to achieve anything we want in life.”
Sophie and her partner, Gabriel, still have worries about Mia’s future health. “But I try to hold onto the fact that I have an awesome life and I’m not restricted in my activities — and my daughter is not going to be, either.”
Sophie is grateful to Mia’s doctors at Montreal’s Ste-Justine Hospital, and for remarkable progress in care, treatment and support for families since her own childhood.
Mia, Gabriel and Sophie
Sophie and Mia
Challenges
Despite progress in the healthcare system, challenges persist for people living with CHD – with some more affected than others. Issues across the system include a shortage of trained CHD experts, issues with access to care, uneven care transitions, and gaps in research and data, to name a few. For people born with a heart condition, these issues can affect their life trajectory, life choices, and integration into school, community and work. There are also impacts on the family as a child with CHD requires extra care and attention.
Specialized care should not be exclusive care
While Canada’s 32 CHD centres provide much needed specialized care and services, they are concentrated in bigger cities. For many families this means travelling to access the care they need – sometimes long distances, and sometimes for extended periods. A complicated procedure can require a long hospital stay, far away from family and other social supports.
In a country as large as Canada, the travel from some rural and remote communities is extensive – and expensive. In addition to transportation, accommodation and other costs, many cannot easily manage or afford taking time off work and being away from remaining family and other obligations. It has been documented that the time demands of managing complex medical needs can result in employment challenges and loss of income.
Most recently available data indicate that fewer than onequarter of adults with CHD in Canada are being followed in a CHD centre, and while not all patients require this level of care, more needs to be done to ensure those who should have access to the clinics, do have access.
Transitions can be difficult
Transitioning from childhood to adulthood is a time of change for everyone. Moving away from home, starting college or university, getting a job, having a relationship, thinking about starting a family can cause stress and more so for someone already managing a chronic condition. During this time of life, health can become less of a priority as other things take precedence.
As children with CHD become adults, they will transition from pediatric care to adult care. Moving from one system to another can interrupt the consistency of the care and support they receive. Women with CHD can also face unique care challenges
9 in 10 babies born with congenital heart diseas e now survive.
in their child-bearing years if they are considering pregnancy or become pregnant. Some transition programs are well developed, but there is considerable variation across the country.
The transition process can be more challenging for some than others. Everyone has different needs and maturity levels and understanding of their own conditions. Health status can vary and change over time, with some conditions becoming more complex as people get older, requiring more care and increased hospital visits.
Young people can experience anxiety around leaving a familiar setting as well as the prospect of having to form relationships with their new health team and taking on more of their own health management. It is a time of transition for parents and caregivers as well, as they may become less involved, although some people living with CHD will continue to have a family member or caregiver present at their appointments.
The pediatric system for CHD can be better resourced and provide better support for children and their families, including access to social workers and other allied health professionals, making the switch to the adult system an unsettling experience.
“Many young people do not have the basic self-management skills needed to successfully enter the adult healthcare system, such as knowing how to fill a prescription or make an appointment and knowing how to reach out to their heart team when they have questions or if they develop symptoms and need help,” says Dr. Mackie.
Fixated on her heart
When Maddie Bosgra was three years old, her mother, Leah, noticed she had become constantly tired and took her to her family doctor in Calgary, who referred her to a cardiologist right away. Maddie was diagnosed with chronic congestive heart failure due to a severely leaky mitral valve. A year after her diagnosis, she had her valve replaced, but sadly, either during or after surgery, Maddie had a stroke requiring speech therapy, physiotherapy and occupational therapy to recover. Luckily, with an incredible medical team and a whole lot of drive to heal, Maddie was able to make a full recovery.
When Maddie was 17, she moved from the pediatric clinic to an adult CHD clinic, but the transition was bumpy. Communication between the two clinics and Maddie was not as smooth as it could have been. For example, during the transition, she had two appointments within one week – one at each clinic and an echocardiogram each time. She was also given the impression she would experience significant changes, such as her parents no longer being allowed to attend appointments with her, and her care would be less personal. This turned out not to be the case; although she has noticed differences between the two systems, they both allowed her to use her parents as support when it came to appointments.
Recently graduated from university and working in communications, Maddie continues to receive excellent care. Her current cardiologist is interested in all facets of her life, but she is more focused on her heart health. “My doctor does care about my job and my education, but she is hyper-fixated on my heart, which is great because if she can hyper-fixate on my heart, I don’t have to,” says Maddie.
In Canada, one-quarter of young adults with CHD experience discontinuity of care. A lapse of medical care of two years or more is common in adults with CHD and is associated with poorer outcomes. Challenges can also stem from incomplete transfer of files and other documents, resulting in some patients becoming the custodians of their own health files, bringing them to appointments.
Too few providers
The number of cardiologists who work with adult CHD patients has not kept pace with the increase in the patient population. There is also insufficient support available for people with CHD including the number of nurses and allied health professionals such as social workers and psychologists.
According to a survey Heart & Stroke carried out with nursing and allied health professionals who work with CHD clinics, mental health supports are not uniformly integrated into care for either children or adults living with CHD. Children and adolescents with CHD are more likely than other kids to experience anxiety, depression and psychological issues, which affects their quality of life. While the burden on mental health is high in youth and adult CHD populations, mental health conditions are underdiagnosed and undertreated.
Chanda McFadden is a registered clinical social worker in Alberta with both direct practice and research experience in working with individuals with CHD. She now works collaboratively within a multi-disciplinary team, supporting patients from diverse backgrounds in mental health, and co owns a private therapy practice. Her past research has included a strong focus on patients’ voices. “There is so much fear and uncertainty that can come with having CHD or a chronic illness. Some people face multiple surgeries and ongoing medical appointments, which can understandably lead to depression, anxiety or even PTSD.” She knows mental health services are an essential part of the care people with CHD should receive, but system barriers and limitations often prevent patients from receiving proper care, especially mental health support, which not only impacts patients but also their family.
Rehabilitation and physical activity
Cardiac rehabilitation programs are often described as “secondary prevention” and include both physical rehabilitation, to get someone back as close as possible to their prior level of physical functioning after a cardiac event, as well as education around risk factor management. Although CHD is not an “event” in the same way as a heart attack or stroke, CHD patients often undergo surgeries which require recovery and rehabilitation. Risk factor management is universally beneficial and can include smoking cessation, physical activity, nutrition, mental health and stress management and medication management.
From an early age, people with CHD can be discouraged from participating in physical activity – by parents, schools, and even health professionals – due to a lack of understanding of the potential risks and a desire to protect them. This is changing, as
centres across the country are focusing more on supporting active lifestyles. Although there are access challenges for cardiac rehabilitation in general, people with CHD are even less likely to be referred to cardiac rehabilitation than those with other heart diseases.
There is so much fear and uncertainty that can come with having CHD or a chronic illness.
— Chanda McFadden
The impact of inequity
Health inequity refers to differences that are unfair or avoidable. Inequities exist both within and outside the healthcare system and can intersect or overlap, resulting in some people facing a greater burden than others.
A systematic review of 88 US and Canadian studies found that the social determinants of health (including poverty, housing instability, lack of insurance, food insecurity and transportation barriers) were associated with a host of negative outcomes for people with CHD. These include a lower likelihood of a CHD diagnosis during pregnancy but higher CHD incidence and prevalence. Other outcomes included increased infant mortality, worse outcomes after surgery, and reduced access to healthcare services (missed appointments and loss to follow-up) among others.
The prevalence of CHD may be higher in some Indigenous populations in Canada. According to Dr. Mackie, Indigenous people who experience CHD can face additional and disproportionate hurdles accessing care. “Because some forms of CHD are more common in Indigenous people in Canada, there’s a higher incidence at baseline. Indigenous people are less likely to be referred for prenatal testing and less likely to be diagnosed prenatally. They are more likely to experience racism within the healthcare setting and have associated fears of attending appointments and mistrust providers.”
Not surprisingly, as Indigenous people in Canada have faced racism in the healthcare system, this is an inhibiting factor to attending appointments or seeking care. The shortage of Indigenous healthcare providers is a disincentive to accessing care for many in those communities. Indigenous students from reserves, as well as rural and Northern communities, continue to be under-represented in Canadian medical schools, which likely contributes substantially to ongoing health inequities in these communities. Two of the Truth and Reconciliation Commission of Canada’s calls to action focus on changes to the healthcare system to improve care for Indigenous Peoples. These include increasing the number of Indigenous healthcare providers and providing cultural competency training for all
healthcare professionals and educating medical and nursing students around Indigenous health issues.
Dr. Mackie says efforts are underway to increase the number of Indigenous medical students, “But as it takes 10 – 12 years to train cardiologists, these are long-term solutions.”
Newcomers to Canada living with CHD and their families can face barriers around language and culture, impeding their care. Dr. Mertens notes that his centre at SickKids offers a team of translators to support families but there can still be issues around providing information in a culturally sensitive way.
CHD and pregnancy
Pregnancy is often referred to as the first significant stress test for the body. “When you look after women with congenital heart disease who are contemplating pregnancy, there are a few key considerations,” says Dr. Jasmine Grewal, director of the Cardiac Obstetrics Program and the Yasmin and Amir Virani Provincial Adult Congenital Heart Program in Vancouver, and an expert in CHD and pregnancy. “Number one is to ensure that they have accurate preconception counseling so that they understand very early on the safety of pregnancy and impact on mother and baby.”
Women with CHD who are considering pregnancy or are already pregnant should be referred to an expert CHD centre as early as possible – poor outcomes are associated with late referrals. Other considerations include decisions around testing and changes to medications that should ideally occur before pregnancy. Once a woman living with CHD is pregnant, risk levels need to be determined to identify the care she will need during pregnancy, delivery and follow-up, and if she should receive all or part of her care at an expert CHD centre.
“Ultimately each woman will make the decision that is right for her, and the risk assessment or risk tolerance is different for everyone; it is important to remember that mom’s health is linked to the baby’s health,” says Dr. Grewal.
Over the course of her career Dr. Grewal has seen improvements in how risks are managed for women living with CHD, how they are supported, and getting them connected with the right program. Robust cardiac obstetric programs do exist across the country but are not available everywhere. The clinic Dr. Grewal manages serves the province of BC and her team is multi-disciplinary including dedicated nursing staff who provide one on one support to patients.
There are other persistent gaps that are gender specific. “We don’t know what the impact of menopause is on women with CHD. Is it different? Are the symptoms worse? What does hormone replacement therapy look like in this population?” says Dr. Grewal.
Connections: CHD and other conditions
“The heart can affect the brain, the brain can affect the heart, and they can both be affected by other processes in the body,” says Dr. Thalia Field, stroke neurologist, professor of medicine at the University of British Columbia and holder of the Sauder Family/Heart and Stroke Foundation Professorship in Stroke Research.
Heart disease does not impact just the heart. People with CHD are at higher risk for brain and cognitive issues as well as other heart conditions. Neurodevelopmental challenges are the most common co-existing conditions in children and young adults with CHD, especially those with complex CHD and brain abnormalities are significantly more common among adolescents and adults with complex CHD compared with the rest of the population.
For example, in children with CHD the impact on brain development can be significant. “We are learning more about the associations that can put children at higher risk for developing autism spectrum diseases or attention deficit disorder,” says Dr. Mertens. “We know that kids and especially young adults are more prone to mental health problems, which are often related to neurocognitive deficiencies – there is a clear relationship.”
Depression, anxiety and impaired cognition are common among those living with CHD. A recent large global study showed that about one-third of individuals with CHD reported elevated symptoms of anxiety and depression and the lifetime risk is even higher. Anxiety and depression among those with CHD are associated with lower quality of life and health status as well as higher healthcare utilization and mortality. There is also emerging evidence that suggests that adults with CHD may face a heightened risk of post-traumatic stress disorder.
Adult CHD patients are at higher risk for a variety of other health issues, including heart rhythm problems, heart failure, stroke, coronary artery disease, and cancer. Individuals with CHD have a higher prevalence of a wide range of other conditions, and they occur at an earlier age in those with CHD compared to the general population. These include important risk factors such as high blood pressure, high cholesterol and diabetes, as well as lung, kidney and liver dysfunction. Even individuals with simple CHD may have a considerable number of important comorbidities.
A long journey
John Wheatcroft talks about his journey with heart disease beginning almost 50 years ago. In fact, it started earlier. John was 18 when he found out he had a heart murmur but did not think much of it. When he was 29, married with two small children and working hard, he started feeling very tired and was having chest pain. He ended up in emergency and found out he had been born with a hole in his heart and required surgery.
“The surgeon told me it was the size of a silver dollar and he couldn’t believe I’d lived that long with such a huge hole.” He recovered well and was enjoying a busy life until 13 years later when he noticed something off about his heartbeat. He required a pacemaker, a device he calls a “gamechanger.” Over the years he has had five pacemakers in total, each one smaller and more effective than the last.
John has had other health issues but today, at 78 he is still active, walking every day and skating with his grandson in Calgary. “I am a walking, talking tribute to the impact of research and all the amazing medical experts out there,” says John.
Some connections between CHD and other conditions are particularly strong:
• CHD more than doubles the risk of stroke, especially among children and younger adults, who can have 10 times the risk.
• There is a 60% increased risk of vascular cognitive impairment associated with CHD.
• The risk of heart failure is substantially higher in those with CHD, even at a young age and in people with lower complexity CHDs; recent studies show nine to 13 times the risk compared to the general population.
• In older children and adults with CHD, heart failure has been reported as contributing to 26% of causes of death. In fact, heart failure is the leading cause of death among adults with CHD.
• People with CHD have approximately 10 – 20 times the risk of developing atrial fibrillation.
• Individuals with CHD, particularly those with more severe types, are at elevated risk of cardiac arrest.
A disconnected system
When care is well coordinated among providers and institutions, it is both easier for patients to navigate and makes most efficient use of limited resources. Although efforts are underway to provide more integrated, whole person care, there is a long way to go.
“The Canadian healthcare system is often complicated. It works well when you have one problem or condition, but it becomes more complicated when you have multiple health issues,” says Dr. Mertens.
CHD research team grant: Heart-brain connection
Dr. Thalia Field is leading a multi-disciplinary team in a study called Lifespan Brain Health Trajectories in Congenital Heart Disease: The Role of Sex and Gender, as one of three Congenital Heart Disease Team Grants, co-funded by Heart & Stroke donors, together with Brain Canada and the Canadian Institutes of Health Research. The goal is to essentially create a map of factors that influence brain health — both risks and protective factors — throughout the lifespan of a person with CHD, and how these may differ between men and women.
The heart can affect the brain, the brain can affect the heart, and they can both be affected by other processes in the body.
— Dr. Thalia Field
Solutions: What needs to be done?
Everyone with CHD should have timely and equitable access to specialized diagnostics and interventions, and life-long support to optimally manage their conditions. Making this vision a reality depends on several key factors.
Specialized care
The 32 specialized CHD centres across Canada are a major achievement. These healthcare teams provide expertise and experience, improving outcomes for both adult and pediatric CHD patients. There is a need to build capacity further and expand specialized services as the CHD population grows and people live longer. This includes building multi-disciplinary teams and supporting knowledge translation from bigger centres to the smaller ones. Additionally, awareness, skills, and capacity should be expanded within other cardiac healthcare providers to improve care for those living with more mild forms of CHD. This would also increase access to highly specialized clinicians for people living with more moderate to severe forms of CHD.
Outreach clinics
Outreach or travelling clinics are one way of expanding some aspects of specialized care by bringing the care to the patients in their own communities. Teams include cardiologists, technicians and other providers who travel to smaller, often more rural or remote communities for one or several days at a time. This allows patients to be seen in their own local hospitals and reduces their need to travel.
Even for those of us who work in the system, it can be complex to navigate, but if you don’t work within the system, it can be overwhelmingly complex.
— Dr. Andrew Mackie
Dr. Kenny Wong, division head at the department of pediatrics at Dalhousie University and a cardiologist at IWK Children’s Heart Centre, is part of a team that runs about 25 outreach clinics a year across Nova Scotia, New Brunswick and PEI. They spend three or four days at each clinic and see over 1000 patients a year. There are benefits to the patients and their families who receive care close to home, but also to the local health teams, who can learn from the visiting CHD specialists. “We connect with the local pediatricians and the echo labs and the local technicians,” says Dr. Wong.
Dr. Grewal describes the outreach or partnership clinic at the Yasmin and Amir Virani Provincial Adult Congenital Heart Program in Vancouver as a hub and spoke model. “At the adult CHD program in British Columbia, we have a partnership program where our team goes up to Kelowna and Prince George and looks after the moderate complexity patients in their own community, so they do not have to make the trip down. We’ve managed to set that up with funding through our hospital but that’s not a sustainable model and we require increased support from the government.” Adult patients with more complex CHD generally have to travel to the clinic in Vancouver for more specialized services.
Optimizing virtual care
Although not all aspects of virtual care work well for CHD because physical exams are often fundamental to assessments, there is untapped potential. For example, a technician in a remote location can perform an echocardiogram on a new baby, and a CHD specialist in another location can watch it live and provide guidance virtually. Rehabilitation programs, mental health supports and other aspects of CHD care and support may also be provided virtually.
Building, sharing and linking
As the adult CHD population increases, so does knowledge and understanding. There is a unique opportunity to follow people living with CHD as they age and identify risks in early life as well as risks that may accumulate over time. Preventive strategies can then be developed.
There are guidelines for treating adult patients with CHD and care continues to improve as healthcare providers’ awareness increases and as they learn from their patients. More research, knowledge translation, data sharing and coordination among CHD centres – nationally and internationally – will ensure that key learnings and evidence are shared, built upon and used.
“The problems are complicated, which requires collaboration to broaden the knowledge base and develop the evidence needed to treat the patients and really understand what is happening to them so their individual care can be adjusted,” says Dr. Mertens. “We are always learning from our patients.”
Canada has advanced administrative data sources for CHD. Work is needed – and is underway – to integrate these data sources, including through the newly awarded Congenital Heart Disease Team Grants, co-funded by Heart & Stroke. Dr. Grewal highlights the importance of having surveillance systems in place that link patients with their care providers and are also organized according to risk levels to ensure patients receive the right level of care. She notes that if a patient is lowrisk they can be referred to general cardiology, but her clinic would still be able to follow their progress including hospital visits and outcomes and identify if someone requires care from a specialized clinic.
Navigating smoother transitions
Transitions should be seamless as people age, and their health needs and care requirements change. “Even for those of us who work in the system, it can be complex to navigate, but if you don’t work within the system, it can be overwhelmingly complex,” says Dr. Mackie.
Some centres are doing an excellent job of preparing their young patients before they transition to an adult clinic. They learn about their condition and are taught self-management skills such as how to fill prescriptions and make medical appointments, prepare questions to ask at their appointments, and to identify urgent issues and know what to do.
Patient navigators literally help patients navigate the system, but they also can help promote self-management skills in young adults and address barriers to attending appointments including something as simple as providing bus tickets, parking passes or meal vouchers.
Although there is tremendous value in patient navigation, it is under-resourced. Dr. Mackie estimates that less than 10% of patients have access to these types of services. He contributed to an Alberta study that highlighted the value of patient navigators for patients between the ages of 16 and 21, which resulted in his hospital hiring a full-time navigator.
CHD research team grant: Optimizing transitions
Dr. Andrew Mackie is leading a multi-disciplinary team in an exciting research project called Optimizing Care Transitions Across the Lifespan in Congenital Heart Disease, as one of three Congenital Heart Disease Team Grants, co-funded by Heart & Stroke donors, together with Brain Canada and the Canadian Institutes of Health Research. The goal is to improve the experience of patients and families, reduce their anxiety and improve their medical outcomes through care transitions. Because the population of adults living with CHD is relatively new, the multi-part study will gather data — including age, sex, type of heart defect and life expectancy — to paint a detailed picture of the lifespan challenges faced by this group. The team will focus on three areas: transition to adulthood including peer mentorship programs for young people and parents, transition through pregnancy to early parenthood, and transition to end-of-life care.
Peers helping peers
“Some individuals with CHD or chronic illness live with what we often refer to as an invisible disease,” says Ms. McFadden. Despite their significant challenges, their struggles may not be visible to others. “Something we’ve also learned in our research is that isolation comes from CHD patients not knowing other CHD patients. When they do meet other people who are living with the same condition there is a sense of belonging and mutual understanding and shared experience. Having people to talk to and share with is so important.”
Dr. Mackie’s Congenital Heart Disease Team Grant includes testing peer mentorship programs during the transition to adulthood and transition to parenthood phases. This is new to the field of CHD. “If it is shown to be successful, I would like to see virtual peer mentorship become available across Canada for adolescents and young adults with CHD, wherever they live,” he says.
Enhanced rehabilitation
Jennifer Harris, manager of Outpatient Cardiovascular Rehabilitation and Regional Outreach Programs, Division of Cardiac Prevention and Rehabilitation at the University of Ottawa Heart Institute believes there are opportunities to raise awareness and provide tools to health professionals, fitness leaders, parents and kids. “More education is needed so that people with CHD aren’t faced with imposed barriers around fitness opportunities. Everyone is an individual and should have the opportunity to learn their own limitations and have the tools to monitor themselves. It is not super complex, so it’s very doable.”
Ms. Harris also highlights the need for standardized information around rehabilitation for healthcare providers and others who work with CHD patients. Camps for children with CHD exist in some parts of the country; these empower kids around their physical abilities and provide opportunities to connect with peers.
Support in the community
CHD is a lifelong condition that may impact all aspects of a person’s life, well beyond their direct health needs. For people living with CHD, ongoing community support
It is really all about the patients themselves – their ability to deal with adversity, their resilience, their ability to manage uncertainty and expectations. We couldn’t do this without our patient partners.
— Dr. Ariane Marelli
throughout the lifespan is essential to their wellbeing. This includes building awareness of the impact of CHD on schooling, work life, and personal life, and pairing that with appropriate and accessible community supports and resources as needs arise over time.
Addressing inequity through cultural competence
Many factors affect people’s access to healthcare and their experiences with the healthcare system, such as race and ethnicity. Challenges including language barriers, a lack of familiarity with the healthcare system, and institutional racism can make it more difficult to access care – a significant issue in a country as culturally diverse as Canada. Cultural competence in healthcare means practitioners effectively providing care that meets the social, cultural, and linguistic needs of patients. Cultural safety is about the experience of the patient or community and requires practitioners to be self-reflective, incorporating anti-racism, cultural humility and trauma-informed care. Creating a more culturally competent and safe health care system can help improve health care experiences, outcomes and quality of care.
I am a walking, talking tribute to the impact of research and all the amazing medical experts out there.
— John Wheatcroft
A national action plan
A national strategic framework was developed, led by Heart & Stroke with input from people living with CHD and their families and doctors, nurses, social workers, rehabilitation experts, researchers, systems leaders and funders.
Vision: Optimal health and outcomes for people with CHD and their families.
Aim: By 2030, all Canadians with CHD and their families will have equitable access to high quality, personalized and integrated health services and knowledge across their lifespan.
Six priority theme areas form the framework of the national strategy:
• Specialized care: Equitable, accessible and inclusive specialized CHD care across the lifespan and continuum of care.
• Evidence-based care: High quality, personalized, evidence-based prevention, treatment and management of CHD.
• Optimal transitions: Seamless transitions across the lifespan and continuum of care using a life course health management approach.
• Integrated health systems: Longitudinal, integrated, interdisciplinary health systems of care.
• Community integration: Support, resources, services, collaborations and responsiveness.
• Whole person care: Addressing the evolving biological, psychological, emotional, social and environmental needs and experiences across the lifespan of people living with CHD, and their families.
Heart & Stroke is working in partnership and collaboration with the following organizations to develop Canada’s first comprehensive national strategy and action plan to improve systems of care and equity in access to care across the continuum and across the life span:
• Canadian Adult Congenital Heart Network
• Canadian Pediatric Cardiology Association
• Canadian Cardiovascular Society
• Canadian Congenital Heart Alliance and Parents Groups
• Canadian Congenital and Pediatric Cardiology Research Network
• CHD Nursing and Allied Health Leaders
• Canadian Heart Function Alliance
• Canadian Society of Cardiac Surgeons
• Canadian Institutes of Health Research (CIHR) Institute for Circulatory and Respiratory Health
What else is Heart & Stroke doing?
• Heart & Stroke will continue to be a leader working in partnership with key stakeholders to ensure people with CHD and their families have increased and equitable access to specialized, integrated and timely care to optimize health and outcomes across the lifespan.
• Heart & Stroke is funding life-saving research including annual core grants focused on CHD as well as three Congenital Heart Disease Team Grants announced in July 2024, in partnership with Brain Canada and the Canadian Institutes of Health Research (CIHR) Institute of Circulatory and Respiratory Health and Institute of Genetics. These research teams are focusing on CHD throughout the lifespan and in the context of physical as well as mental health, with considerations for sex and gender, Indigenous health and wellness, and health equity.
Acknowledgements
• Heart & Stroke’s Community of Survivors and Care Supporters’ Community are two separate members-only Facebook groups: one for survivors of heart disease or stroke and one for those who provide support or care to them. The groups offer social and emotional support in a safe, inclusive and respectful environment. Community Connect is a free e-newsletter for anyone affected by a heart condition or stroke and includes opportunities to participate in research studies and share advice, experience and resources. Find out more on our website.
• Heart & Stroke raises awareness during Congenital Heart Disease Awareness Week every February, sharing resources and stories of people with lived experience.
#CHDAwarenessWeek
Heart & Stroke is greatly appreciative of everyone who contributed to the development of this report including the people who have been personally touched by CHD, health professionals and researchers. A special thank you to experts who provided guidance on the report development: Dr. Luc Mertens, Dr Jasmine Grewal and Dr. Andrew Mackie.