by Carolyn Thomas ♥ @HeartSisters
I know that every cardiac diagnosis is frightening, but I suspect that congenital heart disease (CHD) may be the most frightening if the patient is your own child. The word “congenital” means “present at birth” – although sometimes the problem doesn’t show up until babies are older, even into adulthood. When I first wrote about CHD here on Heart Sisters, I learned that there are now more adults than children living with CHD. Like many people, I’d associated congenital heart disease with photos of tiny babies recuperating from open heart surgery. Cardiac researchers in Texas called this growing adult population “the product of the astounding success of pediatric cardiac surgery.”1
Surgical advancements have indeed kept little heart patients alive far beyond the early days of pediatric surgeries. But what’s still missing from this good news is the reality that little heart patients grow up to be big heart patients – with one remarkable difference. Unlike in other cardiac diagnoses, people who were born with CHD are far less likely than the rest of us to receive the ongoing cardiac follow-up care that I and other heart patients take for granted.
The stats on appropriate longterm cardiac follow-up after age 18 are discouraging. Doctors call these heart patients “lost to follow-up”. A report from the U.K. concludes that “a lack of trained medical staff and specialized cardiac units presents a major problem” in following up over time.
It’s also discouraging to consider that here in Canada – where we issued nationwide guidelines for the care of Adults with Congenital Heart Disease (ACHD) as early as 1996 – researchers found that about one-third of children diagnosed with CHD had stopped seeing a cardiologist before age 12, despite our country’s healthcare system and universal health insurance coverage2. And more than 1 in 5 young adults with severe CHD were not seen by a cardiologist at all during the 5-year research period (ages 18 to 22 years inclusive).
Far more discouraging, however, was the conclusion of an American study which found that 47% of CHD families left cardiac care before the patient was five years old.3
For many reasons, families are often “lost to follow-up” before their medical team has begun discussing either their longterm risks of CHD, or why return visits are so important.
Those longterm risks of CHD include complications associated with congenital heart disease (like increased endocarditis risk, plus the elevated burdens of arrhythmias, pulmonary hypertension, heart valve problems, or even future pregnancy).
According to lead author of the Canadian study, Dr. Andrew Mackie, some of the known predictors of appropriate follow-up to adult CHD cardiac care include:
- being female
- a history of CHD hospitalizations
- more cardiovascular surgeries in childhood
- more frequent physician visits in early childhood
- being treated at a university hospital setting
Meanwhile, if specialized cardiac follow-up are not part of the longterm health team for so many of these adult CHD patients, who then is helping patients and families affected by day-to-day concerns about their diagnoses?
Enter a recent article by Shelagh Ross and Amy Verstappen, who are patient leaders in this particular field4 . Both have been very involved in non-profit CHD patient organizations. When they first met at a Toronto conference, Shelagh was with the Canadian Congenital Heart Alliance (CCHA) at the time, while Amy was with the American-based counterpart called the Adult Congenital Heart Association (ACHA). They kept in touch over the years, ultimately hosting and funding a conference called the International Congenital Heart Leadership Summit in Barcelona, where over 30 other CHD patient organizations worldwide were represented. As Shelagh explained: “This event was so successful and so beloved that Amy and I went on to become two of the founders of the Global Alliance for Rheumatic & Congenital Hearts – Global ARCH.
Their comprehensive article, published in the journal, Pediatric and Congenital Heart Disease, proposes that patient organizations like theirs – which provide either in-person or online group support and education – are truly valuable resources in improving the lives of both patients and their families. They remind us, for example:
“Many adults with CHD have never met anyone else with a similar condition.”
They add that many of the 80+ CHD patient organizations currently active around the world have evolved from being small hospital-based parent support groups held on pediatric cardiac wards to becoming “influential providers of education, support, resources and advocacy for their communities.”
This patient education and support typically takes place in informal settings, such as in online CHD patient chat groups where patients and their families can ask (and answer) common questions. Zipper Sisters: Women with CHD is just one example – a female CHD patient-only moderated Facebook group with thousands of members. These patient organizations don’t replace appointments with congenital cardiology specialists, of course, but what they can offer to patients and their families is an important adjunct to care.
Shelagh and Amy cited the impact of CHD patient organizations in this way:
“There has been a huge shift in patient knowledge and empowerment, thanks in large part to patient organizations worldwide, making the patient experience less isolating and one of community, learning, and knowledge. It is a remarkable evolution, and one that can only help to improve the patient experience – and ultimately patient outcomes.”
But they also warn that there are still major gaps needing to be addressed, and one way forward is through partnerships between healthcare professionals and these CHD patient organizations. Their journal article, for example, includes some of the compelling reasons behind this “loss to follow-up”, as well as these useful suggestions for all clinicians who care for Adults with Congenital Heart Disease (ACHD):
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– Let patients know about patient support groups and organizations (see links below) and encourage them to join
– Become familiar with the resources provided by patient organizations and recommend them to patients and families
– Partner with patient organizations on educational and supportive initiatives and activities
– Advocate for mental health support for patients with CHD within your institution
– Partner with patient organizations when conducting research to ensure that their priorities and perspectives are included in research design, and that they are involved in planning, execution, and dissemination
– Identify potential leaders among your patients and encourage them to volunteer at their local organization
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While I was reading Shelagh and Amy’s journal article, it struck me that Congenital Heart Disease could be considered the poor cousin on the unofficial hierarchy of serious childhood diagnoses.
It’s almost as if many of these heart patients are no longer viewed as “real” heart patients.
I was shocked, for example, to read in their article that so far this year, the National Institutes of Health in the U.S. invested $143 million in research funding for CHD (the most common congenital defect, affecting one in every 80-100 babies). That’s an impressive amount of funding, of course – until we learn that researchers studying childhood leukemia (a condition which affects significantly fewer children – 1 in 13,500) received $268 million from the same funder for their research. This is not, of course, a spitting contest between scary childhood diagnoses – but merely yet another example of how medical research dollars are not always raised or spent equitably.
While we wait for that equity in medical research funding, we can appreciate Shelagh and Amy’s words on what patient organizations can mean to CHD patients and their families:
“On the most basic level, support and information from others with lived experience participating in a patient organization can offer a unique tool for patients and caregivers to meet and share experiences – and these connections can be transformational.”
1. A.N. Thakkar et al. “Adult Congenital Heart Disease: Magnitude of the Problem.” Current Opinion in Cardiology. 32.5 (2017).
2. A. Mackie et al. “Children and Adults with Congenital Heart Disease Lost to Follow-up. Who and When?” Circulation, 4 (2009).
3. J.L. Jackson, J. Morack, M. Harris, et al. “Racial Disparities in Clinic Follow-up Early in Life among Survivors of Congenital Heart Disease.” Congenital Heart Disease, 14 (2019).
4. Shelagh Ross, Amy Verstappen, “The Role of Congenital Heart Disease Patient Organizations in Advocacy, Resources, and Support Across the Lifespan”. CJC Pediatric and Congenital Heart Disease, 2023.
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Q: Have you or somebody you love been diagnosed with CHD?
NOTE FROM CAROLYN: I wrote more about different types of cardiovascular disease in my book “A Woman’s Guide to Living with Heart Disease“. You can ask for it at bookstores (please support your local independent bookseller!) or order it online (paperback, hardcover or e-book) at Amazon – or order it directly from my publisher Johns Hopkins University Press (use their code HTWN to save 30% off the list price).
See also:
Non-profits that provide support, education, and funding for CHD research include the following (please Google groups in your local areas and consider making a donation to help groups like these
– Canadian Congenital Heart Alliance
– In the U.S., contact the Adult Congenital Heart Association
-in the U.K., contact the Somerville Heart Foundation
– When Babies With Congenital Heart Defects Grow Up (In 2015, I interviewed one of my Heart Sisters readers about her dramatic history as a little heart patient-turned-big heart patient with CHD).
– For important information about contraception for adult females living with congenital heart disease, read Contraception and Cardiovascular Disease: 10 Points to Remember from the American College of Cardiology (and thank you to Chicago cardiologist Dr. John P. Erwin III for the heads up about this report!)
Heart Sisters 
My child was diagnosed with non-congenital mild valve insufficiencies at two years old due to another chronic condition that causes laxity in tissues and joints. It was my recommendation that a baseline be established for him due to family history.
He sees a cardiologist annually to monitor him, who recently advised every other year unless there is a concern. He has five different specialists that see him in different cadences, some more frequently than others.
The parent has to play a central role in advocacy for the child as appropriate to the care needed. While insurance plays a role, prioritizing prevention over unexpected intervention is important, even for the small cardiac insufficiencies he has now.
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Hello Pamela – thanks for sharing your experience with your son’s mild heart valve problem, diagnosed in toddlerhood. It sounds like he is getting good follow-up (and five different specialists!) You’re so right about parents’ crucially important role in advocating for their child – particularly when more than one chronic diagnosis is present.
Good luck to you and to your son! ❤️
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