by Carolyn Thomas ♥ @HeartSisters
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 per cent 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 adult 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 Hospital 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 per cent 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 battery 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 healthcare 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.
“Seek help!”
♥
♥ 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.
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NOTE FROM CAROLYN: I wrote more about congenital heart disease and other forms of cardiovascular diseasae 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).
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Q: Have you or a loved one experienced cardiac issues as an adult due to a childhood heart defect?
See also:
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?
Heart Sisters 
Thank you for this article. I was diagnosed at age 30 with a “very slight” murmur; increased about age 45, referred to a cardio for follow-up; aortic valve replaced at age 52 with mechanical valve. Diagnosed with cardiomyopathy and heart failure at age 58. I will be 65 on my next birthday.
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I am in Canada. But through online and Facebook groups, I know several people (mostly Americans) with CHD that have been followed, and had subsequent surgeries.
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I had open heart surgery 47 years ago and for the first 10 years was seen by the cardiologists every year.
Then everything changed, the unit I went to was shut down and moved from one hospital to another for years because of cuts and a government who didn’t know what they were doing (and still don’t). This resulted in many different doctors and surgeons seeing me over the years, only when I needed my pacemaker changed, and during one of these one of my two patient files were not sent to the hospital which resulted in the surgeon not knowing the full extent of my heart problems.
This caused me to be opened up in four different places to change the battery and me to be very ill and a longer than normal stay in hospital. I am now 62 and only now having tests for problems I have had for some time, and have just in the last few months realized that because of all this new technology my patient files have been destroyed, which in effect means that I don’t know the full facts of what was corrected during surgery at the age of 15.
As my Husband says if I had been seen once a year, what is wrong now would probably have been picked up long ago. People should be made aware that they may not be able to get ahold of their files anymore because of them being put on computer, and here the NHS only put the last 6 years online. I think CHD patients who get to my age have had luck on their side. I do realize that having the NHS does mean a lot as we do get our treatment and medicine and am grateful for this, but over the years I have seen caring being eroded from the ‘caring profession’.
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Thank you Mag for this very important reminder to ALL people diagnosed with a congenital heart defect, including parents of these children. REQUEST COPIES OF ALL RECORDS! They are important for pediatric heart patients, but can be just as important when those children grow up.
You were being a trusting patient all those years, assuming that of course your medical records would be accurate and available forever. I’m guessing you have already contacted the hospital where you had your surgery at age 15? Best of luck to you, Mag…
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Hi all! In contrast to the posts above, I’ve had positive experiences of continuing care from childhood to adulthood. I’m 38 years old and live in the UK.
Reading this post makes me so thankful (again) for the National Health Service (NHS) we have here.
It is awful that an insurance company would consider replacement of a pacemaker an elective procedure! I was born with transposition of the great arteries, ventricular septal defect and pulmonary stenosis and have had lifelong care from the NHS including open heart surgery when I was 3 and 30.
I went for a routine pacemaker check earlier this year and they picked up that my battery was running low and the NHS replaced it the next day. I have had great follow up with my cardiologists with no break in care at all. I feel so sorry for those in America who have to rely on health insurance – there is no way I or my family would have been able to afford the care I have had from the NHS – I think they must have spent over a million pounds on me so far in my life.
I really feel that the American system is so unjust and leads to unnecessary suffering, as illustrated by Aletha’s example.But I guess you don’t need me to tell you this! I know this NHS isn’t perfect, and I worry about its future under the current government here. I just hope it will be there for me as I get older, and for future generations.
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I completely agree with your assessment of the American/insurance company scenario described by Aletha. As I wrote here: “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.” Here in Canada (aka “commie pinko land of socialized medicine”), no for-profit health insurance company would order physicians around like this.
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I think you are talking about me. I was born with a Ventricular Septal Defect many years ago (Ed: a hole in the heart occurring in the wall that separates the heart’s lower chambers). I am in my 50s. At 4 months old, I had a procedure called Pulmonary Banding. The goal was that it would slow down the blood flow, and thus decrease the pressure on my heart until technology advanced far enough that I would survive open heart surgery to repair the hole.
Almost all pictures from my early childhood show an exhausted child. At 7 years I was sent to the National Institutes of Health where I had surgery to place a Dacron patch on the hole and had the pulmonary band removed. I was told I was now perfect and needed no further care.
During my pregnancies, I was followed very closely and had no problems. No medical doctor ever mentioned the surgery again.
In my 40s, I became very short of breath, had severe edema, and was severely fatigued. My nurse practitioner offered me anti-depressants! I asked for an echocardiogram. Turns out the part that had been banded had become severely stenotic, the pulmonary value was blown, the tricuspid valve was very weak and the right heart severely enlarged. All because I had never been followed.
I had surgery to replace the artery and valve and that failed a year later. Then had ANOTHER surgery to replace the valve again with a prosthetic valve and a ring put around my tricuspid valve. A year later I had an ablation because of SVTs (supraventricular tachycardia, abnormally fast heart rhythm).
Whew!! Even though I have had excellent exams and the right heart is almost a normal size, I still tire and no longer work full time. I know the docs think it is all in my head, but I have learned to pace myself, rest when I need to, and sleep longer at night. I still work part time as a nurse.
So my advice to anyone with a congenital heart defect is to GET FOLLOWUP your entire life!!
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Thanks for sharing your story here, Karen. This is most certainly NOT “all in your head”. I’m wondering how many other patients diagnosed with heart issues in infancy have suffered needlessly because, like you, they were not followed up appropriately into adulthood! Best of luck to you…
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I also want to thank you for doing a blog on CHD. I am curious how others feel after numerous surgeries and if having fatigue even though the tests are perfectly normal is “normal”?
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Your heart being enlarged is probably causing the fatigue. Mine is showing “normal” on tests too. This doesn’t mention fatigue but this is why you’re tired [The long-term effects of cardiomegaly are not good. Your heart will try to increase its rate to pump more blood through your body. And, when the heart cannot contract as well, it will affect your circulation and cause excess body fluid to build up in your lungs, the area above your stomach (abdomen), and your legs. This fluid buildup makes breathing difficult and causes swelling (called edema).] ~ http://www.texasheart.org/HIC/Topics/Cond/dilated.cfm. Also, the heart unlike other muscles once enlarged doesn’t return to fully “normal”.
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Thanks for weighing in here with your experience, Aletha, and also for allowing me to share your compelling story with other readers! Good luck to you… 🙂
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Yes, fatigue is “normal”, for having an enlarged heart.
Though they used surgery to correct your blood flow, the heart muscle (unlike your other muscles) is unable to return fully to its normal size. So, you could still have residual symptoms. As you do, I wish the surgeons would tell people this, because it can cause undo worry and stress to the patient.
Some days are worse than others and like you, I am just taking those days step-by-step. However, I have diastolic heart failure (a little different, but is caused from the enlarging of the heart prior to surgery). Keep mentioning the fatigue at your cardiologist follow-up appointments, journal the dates it happens and all symptoms, and keep talking about it.
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Hi,
My son had two VSDs (ventricular septal defects) and an ASD (atrial septal defect) that were patched when he was 9 months of age.
We have had regular follow ups ( every two years after he was 10 and annually before that till he went to University at 18 years of age. We were told we do not need to continue with the follow ups until there is an issue. He is 21 now.
All follow ups consisted of echo cardiographs and came out clean. He recently complained of arrhythmia on Christmas and I will be taking him to the doctor for a referral to cardiology tomorrow. I happened upon your site while researching on the internet.
I am worried and would like to know of any cases more like his. He has a healthy appetite, no breathlessness but has had iron deficiency on and off.
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Hello Ruhindee – a heart arrhythmia is an upsetting way to spend Christmas Day! I’m glad your son has a medical appointment tomorrow to stay on top of this development. I’m not a physician so cannot comment specifically on your son’s symptoms, but I can say in general what you likely already know: that a congenital heart defect can in fact alter the heart’s rhythm. Mayo Clinic cardiologists say that the ASD your son was diagnosed with as an infant is “associated with a high incidence of atrial arrhythmias that increase in frequency as the patient ages.” Best of luck to you tomorrow and beyond. Hope everything goes well for your son.
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Thank you. I have gone through the article referred. It speaks of ASDs that are patched in adults mostly.
I guess I will know more when the results come in but I am hoping that since we had him operated at 9 months of age and all patches applied, this is not a cause for worry.
Fingers crossed!
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Good luck!
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Thank you for the wake up call, Carolyn. I’ve recently been wondering how the congenital heart failure I had as a newborn has affected my adult heart health. I don’t know what type I had. All I know is that I was rushed by ambulance from the maternity hospital where I was born (Montreal) to the Montreal Children’s Hospital with Dr. Pauline Vanier, the future Governor General’s wife, in attendance. (My mother was very proud of that!)
I’ll see what I can do about searching for the records – that should be an interesting journey!
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Hello Deborah – I suspect there may be lots of people in the same situation, where one’s babyhood diagnoses become just a vague family story passed down with very few specific details over the years except the most dramatic (like rushing a newborn to children’s hospital by ambulance – not to mention Mme Vanier!) Good luck tracking down those records…
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