In 2005, it was estimated that for the first time in history, there are now more adults than children living with childhood heart defects. That sounds like good news to me, because it means that due to major advances in medicine over the past few decades, more than 90% of babies born with congenital heart disease are now surviving into adulthood. What it also means, however, is that as these babies grow up, they need continued and careful monitoring as heart patients.
One such baby was Aletha, one of my blog readers in South Dakota, now 36 years of age. Her parents, she says, realized soon after she was born that their newborn daughter had a problem. Pediatric cardiologists diagnosed baby Aletha with a heart condition called Bicuspid Aortic Valve Disease (BAVD).
BAVD is just one of about 35 known types of congenital heart defects, ranging from simple to very complex. (See illustration below of what BAVD looks like).
As described by experts at Toronto’s Hospital For Sick Children (known affectionately by most Canadians as simply “Sick Kids”), a heart defect like Aletha’s means that part of the baby’s heart has not formed properly.
The defect (or lesion) typically occurs very early in pregnancy, often before the mother even knows she’s pregnant.
But as a recent American Heart Association scientific statement warned, even when childhood heart conditions are successfully treated in infants, these people should still be carefully followed up as adults. A subsequent editorial in the medical journal The Lancet (Growing Older With Congenital Heart Disease) recommended that patients obtain copies of their original medical records on diagnosis and all interventions, and added:
“Some patients may falsely believe that they have been ‘cured’ by their childhood intervention and therefore don’t need regular follow up care.”
Lead author of the AHA statement Dr. Ami Bhatt, director of the Adult Congenital Heart Disease Program at Massachusetts General Hospital in Boston, wrote this:
“People with congenital heart disease may also later develop acquired heart disease, so attention to controlling heart disease risk factors like being overweight, diabetes, blood pressure, smoking and a sedentary lifestyle is important – and should not take a back seat to their congenital medical history.”
Heart defects like Aletha’s are far more common than you might imagine. About 1 in every 100 infants will be born with one – but this risk increases to about 3 in 100 if there’s a family history. With congenital heart disorders on both sides of her family, that risk factor is what Aletha believes is the culprit in her own diagnosis.
But what causes these congenital heart disorders in the first place is still not clear. Unlike Aletha’s case, some defects may only become apparent much later in life.
Essentially, heart defects can affect the heart in two ways:
- they block or slow down blood flow in the heart or the blood vessels near the heart,
- they make the blood flow through the heart in abnormal patterns, forcing the heart to work harder
That second scenario is what happened to Aletha’s heart.
According to Sick Kids cardiologists, a bicuspid aortic valve like Aletha’s is a defect of the valve between the left pumping chamber of the baby’s heart (the left ventricle) and the main artery that delivers blood to the body (the aorta). The valve has only two leaflets instead of the usual three. About 80 percent of those born with BAVD may eventually require surgical treatment to repair or replace the valve and part of the aorta, usually when they are in their 30s or 40s.
As a small child, Aletha’s cardiac symptoms varied from poor circulation and appetite to “blue days” (feeling sluggish and sleepy). She remembers wearing three or four shirts at the same time because her little chest so often felt cold. She found that crouching and pulling her arms into her chest helped her breathe easier. Her nails turned purple. She could fall asleep anywhere, at any time. Her growth became stunted, and she was no longer able to go to school full-time. She began showing signs of “barrel chesting” (when the ribcage overlaps together at the sternum). She underwent cardiac procedures in hospital at ages four and 10, and was regularly monitored and evaluated by many pediatric cardiologists. She describes her childhood cardiac care as “exceptional” – particularly while under the care of Dr. Maria Wallington while her family was living in Anchorage, Alaska.
When she became an adult, Aletha’s doctors reassured her that patients with BAVD could safely become pregnant – but the younger the better to minimize stress on her heart.* Her only child Kaitlyn (“healthy and beautiful!”) was born 17 years ago with an impressive 10/10 Apgar score and normal echocardiogram results. Throughout her pregnancy, Aletha had been admitted to hospital every week for regular testing, and delivered her baby in an Intensive Care Unit to ensure her heart would handle the labour. Although she tolerated pregnancy and childbirth, Aletha’s doctors told her “not to have another baby because it was too risky.”
But she added:
“The doctors were right, however: the stress on the heart during my pregnancy was too much on the aortic valve. I needed to have that valve replaced.
“But I had to put off the replacement surgery because my health insurance wouldn’t pay for it until it was considered an urgent (not just an elective) procedure.
“By age 23, that finally occurred. By then, I felt so tired at the end of a workday that I would come home and sleep from the minute I sat down until the time I needed to get up for work next morning. I worked in tech support in the cable industry, a sedentary but stressful desk job. I didn’t have any energy at work, and people constantly commented on my blue lips, or on the dark circles around my eyes.
“At last, doctors did replace part of the aorta, and implanted a mechanical heart valve and a pacemaker. But it didn’t go well. Putting off the surgery had not been good for my heart. The muscle around the ventricle had deteriorated, the left ventricle continued to enlarge and my heart was working twice as hard to get the same amount of blood to circulate.
“One year later, bi-ventricular pacemakers – also called Cardiac Resynchronization Therapy (CRT) pacing devices – were being tested and I entered the study, had one of these pacemakers implanted, and my quality of life improved. The heart beat in sync and the muscle recovered. It changed my life! I was able to live a relaxed but fairly normal life for the next seven years.”
But after seven years of only routine maintenance check-up visits following that life-changing surgery, Aletha once again began to experience cardiac symptoms.
She was told her CRT pacemaker battery needed replacing, but because the battery can remain running for months on reserve power, she had to wait until that reserve time was depleted; until then, her insurance company categorized a pacemaker battery replacement as just an elective procedure.
After waiting for insurance approval, Aletha finally went back into surgery to replace the battery. She felt better “for a while”, but her symptoms of fatigue and palpitations returned. This kind of fatigue doesn’t just mean “sleepy”. She described the fatigue as “yawning, fighting to keep my eyes open, feeling like I needed a nap all the time.” She also suffered non-heart related problems that turned out to be due to an infection acquired during surgery.
During two years of “normal” diagnostic tests ordered by three different cardiologists, Aletha was repeatedly told that her heart was “fine” – although she knew that something was clearly wrong.
She continued to persist in seeking help for symptoms like crushing fatigue, palpitations, increasingly frequent “blue days”, chest pressure, shortness of breath, feeling light-headed, swollen feet and hands, and purple nails on her fingers and toes.
What happened – and what didn’t happen – during those two years may seem familiar to other misdiagnosed heart patients who don’t live with a congenital heart condition (and remember that Aletha had already been coping with heart disease for 36 years!)
For example, she described just some of her medical encounters to me:
“I drove to the ER and they told me it wasn’t a heart attack and sent me home, told me it was just anxiety.
“I went to my cardiologist, but without doing any further tests, he told me it was just me getting older.
“Another doctor ordered a pacemaker evaluation, an EKG and an echocardiogram. The pacer evaluation was within ‘normal’ parameters, the EKG was ‘inconclusive’, and the echocardiogram showed ‘normal’ ejection fraction (an important measurement of how well the heart is pumping).
“All was well, yet I was still having these problems. I brought my symptom journal, with dates, to my next appointment. We ran the same tests, and my physician advised me that it was likely anxiety.”
Aletha sought a second opinion at another hospital. It was there that a new cardiologist finally offered her the correct diagnosis of diastolic heart failure:
“He told me what no one else ever told me – that during the time when my left ventricle enlarged, it had damaged the heart muscle. His analogy was like a balloon you inflate to its fullest and slowly let the air out. The balloon turns lumpy and misshapen. The heart muscle does the same, and although my heart got better, that damage was permanent.
“I was feeling symptoms again because the ventricle wall was hardening or thickening.”
Aletha’s story is instructive for many reasons.
First, she’s a good example of how a baby born with a well-managed congenital heart defect can also have later cardiac issues in adulthood.
Secondly, although a diagnosis of diastolic heart failure is known to be associated with heart valve damage due to congenital defects like Aletha’s, she still had to undergo two debilitating years before being appropriately diagnosed.
Third, having a health care system in which a patient is deliberately left to suffer while the fine print within an insurance company’s coverage dictates medical treatment is just plain insane.
As a lifelong heart patient, Aletha has these parting words for all other patients, no matter what their diagnoses:
“What helped me were persistence, journaling, reviewing with different doctors, and pushing that the symptoms were not normal for me. This is what I have, and am being treated with medications. I am now back to walking 30 minutes a day without the tightness in my chest. I feel much better.
“Being persistent is the only way to get help.
“And one more thing: doctors are the experts of medicine, but patients are the experts of themselves.
♥ For more 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
♥ If you were diagnosed with congenital heart disease, visit the Adult Congenital Heart Disease website, which is a goldmine of excellent resources (including for physicians)
♥ Need a translator for some of these cardiology terms? Visit my Heart Sisters patient-friendly, no-jargon glossary.
A big thank you to Texas cardiologist Dr. John P. Erwin for telling me about the ACC contraception report, to my astute reader Robyne Rieger who first suggested I should write about congenital heart disease for a change, and especially to Aletha, who by happy accident contacted me at precisely the same time to tell me her story.
NOTE FROM CAROLYN: I wrote much more about this and other types of heart conditions in my book A Woman’s Guide to Living with Heart Disease (Johns Hopkins University Press, 2017). You can ask for this book at your local bookshop, or order it online (paperback, hardcover or e-book) at Amazon, or order it directly from Johns Hopkins University Press (use their code HTWN to save 20% off the list price when you order).
Q: Have you or a loved one experienced cardiac issues as an adult due to a childhood heart defect?
- Misdiagnosis: the perils of “unwarranted certainty”
- What women need to know about pregnancy complications and heart disease
- Could heart disease have its roots in your mother’s womb?
- Pregnancy: the ultimate cardiac stress test
- When you have a family history of heart disease
- The sad reality of women’s heart disease hits home