This isn't intended for DIYers to try themselves. I wanted people to know a little about congenital heart defects. According to the March of Dimes, congenital heart defects are the #1 birth defect, and over 25,000 babies are born each year with heart defects in the United States alone.
Hypoplastic right heart syndrome a rare and severe type of congenital heart defect; its causes are unknown. HRHS refers to underdeveloped right side structures of the heart. The right side of the heart, which is supposed to pump blood to the lungs, is too small to function; in practical terms, babies with HRHS have only half of a functioning heart.
Hypoplastic left heart syndrome or HLHS, while still rare, is more common than HRHS. The treatments are almost the same.
Every heart defect is pretty unique with its own set of complications. This instructable will give a general idea of the process commonly used to treat a heart with only one usable ventricle.
**update** I was asked to put a link here. Our family is struggling now; step 8 has more information about that. If you're interested in helping, please consider sharing this: Faul Family Recovery. We're so grateful to the Instructables community for the support they've given us, and for providing such a wonderful venue for sharing creations with each other.
Step 1: How the Heart Works
You should know this if you paid attention in 7th grade science class. I've included this review in case you were daydreaming or simply forgot. 12 years old is a long time ago for some of us. You'll notice red and blue in the pictures I drew for this instructable. The red represents oxygenated blood and the blue represents deoxygenated blood. Deoxygenated blood isn't actually blue. It's a darker purplish red color that sometimes looks bluish when viewed through our skin.
Veins are blood vessels that carry blood to the heart, and the vena cava is a very large vein that the other veins from the body connect to; it has an upper and a lower portion, called superior vena cava and inferior vena cava, respectively. Veins have one way valves that prevent the blood from backing up and pooling. Blood is pushed through veins by more blood behind it, and also partially by muscles squishing veins during normal human movement.
In a healthy mature heart, blood enters a chamber called the right atrium from the vena cava. The atrium contracts to squish blood through a valve into the right ventricle. The valve keeps blood from flowing back from the ventricle into the atrium. The atrium is smaller than the ventricle because it doesn't need to pump the blood as far, so it doesn't need as much muscle tissue to move the blood forcefully. If you threw a ball ten feet, you wouldn't have to use as much force as if you threw it fifty feet.
The right ventricle pumps the blood through the pulmonary artery to the lungs. Pulmonary means "of or pertaining to the lungs" and an artery is a vessel that carries blood away from the heart, so pulmonary artery means "blood vessel that carries blood from the heart to the lungs." Once in the lungs, the blood picks up oxygen and drops off carbon dioxide. All of our cells need oxygen in order to survive and produce carbon dioxide as a waste product.
The newly oxygenated blood returns to the heart through the pulmonary veins. If we remember what pulmonary means and what vein means, we know that pulmonary veins are blood vessels that carry blood to the lungs to the heart. The blood enters the left atrium, which contracts to squish it through a valve into the left ventricle. The left ventricle then contracts to pump the blood through the aorta. The aorta is the huge artery that carries oxygenated blood away from the heart to the body. It branches into lots of arteries, which get smaller and smaller until they end in tiny capillaries. Capillaries are tiny little blood vessels. The blood carries oxygen to the cells, picks up carbon dioxide, then flows back to the heart through veins.
Step 2: Early Diagnosis
This is one of the many reasons it's important to get good prenatal care. The ultrasound tech and supervising doctor have many things they look for at the routine 20 week ultrasound. One of those things is the heart. They check for all four chambers, watch it beat, note the size and function, time the heartbeats, check the blood movement through the heart, and many other things I'd know if I'd actually gone to med school.
Sometimes they can't get a very detailed view of the heart and the obstetrician will send a pregnant woman to a high risk pregnancy specialist, who has lots of experience looking at ultrasounds up close and detecting potential issues with the fetus. Often, the specialist will see that there's nothing wrong with the baby's heart. Sometimes, the specialist will see a heart defect. If that's the case, the pregnant woman will likely be sent to a pediatric cardiologist for what's called a fetal echocardiogram. From a pregnant woman's perspective, this is just like an ultrasound, except that she has to lie still for longer while the ultrasound tech and pediatric cardiologist get a really close look at the fetus' heart. If the woman happens to be heavily pregnant with twins, she'll very likely be unable to lie on her back without passing out. She'll have to lie on her side, which will be excruciating if she also has really loose and sore ligaments in her pelvis due to pregnancy, causing her hips to actually pop out of joint sometimes. It's okay to cry in the ultrasound room for whatever reason.
It can be tough to find out about a serious heart defect in your unborn baby and go from telling people, "we're expecting!" to "well, our baby has a 75% chance of surviving the three open heart surgeries she'll have by age three if no other complications arise." Early detection is medically important, though. While in the womb, a fetus has its blood oxygenated by the mother. After birth, an infant's heart has to pump blood to the lungs to get oxygenated and then pump the oxygenated blood to the body. A heart with a hypoplastic ventricle can start to fail as soon as the baby is born. The baby will have the best chance if a medical team is ready for intervention from the start. Hypoplastic heart babies usually have their first open heart surgery within days of birth.
While a three phase surgical intervention is the most common treatment for a hypoplastic heart, some parents sometimes choose other options. One is a heart transplant. Newborn donor hearts are in short supply. Heart transplants usually don't last more than 15 years in a patient before the patient needs a new heart. The patient will often have to be on heavy doses of medications to suppress his or her immune system for life (to keep from rejecting the heart), which can obviously lead to other risks like infection and lymphatic cancer. Some parents choose to terminate the pregnancy. Some parents choose something called "compassionate care." Compassionate care, in this case, involves taking the baby home, feeding, holding, and loving the baby without surgical interventions, and allowing the baby to die a natural death in the arms of loved ones. This instructable won't cover the other options because they're not what we went with. Keep in mind that nobody can tell a parent what the best option is; every situation is different, and parents need to choose what's right for their family.
Step 3: Blalock-Taussig Shunt
Healthy newborn hearts have two extra openings that close over time. The foramen ovule is an opening that connects the right and left atrium. The ductus is an opening that connects the aorta and the pulmonary artery.
These openings allow oxygenated blood to mix with deoxygenated blood. This isn't optimal for people with healthy hearts, but it will keep babies alive if their heart can't otherwise get blood to the lungs or to the body. A modified Blalock-Taussig Shut made of Gore-tex is often used to keep an open connection between the aorta and the pulmonary artery. This allows some of the blood to leave the heart and go to the lungs to pick up oxygen, since the normal route won't work.
Depending on the specific defect, other corrections might also be done during the first surgery.
Note that in the picture I drew, the right ventricle is underdeveloped, and the pulmonary artery leading away from it is very tiny. Without surgical intervention, the blood wouldn't be able to move once it entered the heart from the vena cava. After the shunt is installed and the opening between the left and right atrium is widened if necessary, the blood flow is as follows:
The deoxygenated blood from the body enters the joined atria in the heart through the vena cava, where it mixes with oxygenated blood entering the joined atria from the pulmonary veins. The mixed blood gets pumped into the left ventricle, and exits through the aorta. Some of the blood exiting the aorta will flow through the shunt and go to the lungs to pick up oxygen, while some of the blood will be pumped to the body. The baby's body gets mixed blood instead of fully oxygenated blood, which isn't as efficient as a healthy baby, but it keeps the baby alive until he or she is old enough for the next step.
After the first surgery, it's important for the baby to get lots of calories. The inefficient heart has to work extra hard, which burns a lot of calories. The larger the baby grows, the better the odds of successfully getting through the next surgery. As the baby grows larger, though, the heart will have more and more trouble keeping up. The baby might be put on oxygen. His or her lips, toes, and fingertips might look a bit dusky bluish. Doctors keep a very close eye on the baby during this time. If the oxygen saturation is too high, the body might grow more blood vessels around less vital areas like the digestive system, which can leave the more vital areas like the heart, lungs, and brain with less oxygenated blood. If the oxygen saturation is too low, the body often compensates by growing lots of extra little blood vessels. This can make the next surgery dangerous because it will greatly increase bleeding when the surgeon cuts things open.
Step 4: Glenn Shunt
The Glenn procedure is usually performed when the baby is a few months old. Originally, the Glenn and Fontan procedures were done all together, but it was discovered that babies fare better if they're split into separate surgeries with a fair amount of time in between.
The shunt is removed and the superior vena cava is connected to the pulmonary artery.
After this surgery, the blood flow is as follows:
Blood returning from the upper half of the body flows through the superior vena cava into the pulmonary artery. The blood relies on the pressure of more blood behind it to move into the lungs, since right ventricle can't. The blood gets oxygenated in the lungs and enters the joined atrial chambers in the heart through the pulmonary veins. The deoxygenated blood returning from the lower half of the body also enters the joined atrial chambers of the heart and mixes with the oxygenated blood. The mixed blood is then pumped out through the aorta to the body.
Children tend to have a higher rate of survival from this surgery. It's still open heart surgery and carries lots of risks, but it's less invasive and delicate than the first surgery. Their oxygen saturation levels usually improve after the Glenn procedure, although they'll still be lower than the oxygen levels of children with healthy hearts. Babies with lower oxygen levels can often feel nauseated and have less energy. A heart baby might hit developmental milestones at later times and have trouble with eating and reflux. This becomes more likely and more pronounced the longer the baby spends at the hospital recovering from surgical interventions and other possible complications.
Step 5: Fontan Procedure
The Fontan is usually performed between age 2 and 3, depending on how big the child is, how blue he or she is (yes, really), and other factors.
In this procedure, the inferior vena cava is connected to the pulmonary artery. Often, a surgeon will also leave a little pathway from the inferior vena cava into the atrial chamber. This is to prevent too much pressure and fluid buildup in the lungs; the extra blood has another outlet in case it needs it.
After the Fontan procedure, the path of the blood is as follows:
Deoxygenated blood from the body flows through the superior and inferior vena cava into the pulmonary artery, into the lungs where it picks up oxygen and drops off carbon dioxide, then into the heart through the pulmonary veins. It is then pumped from the atrium to the ventricle, and out through the aorta to the body.
The three procedures comprising the BT shunt, the Glenn, and the Fontan are called the Norwood Procedure. The Norwood doesn't fix a heart that only has one usable ventricle, but it does allow it to function. It's a pretty clever design that seems to make the best of an otherwise fatal condition.
Step 6: Complications
There are too many possible complications to list here. Our daughter's heart is even more complicated than just a hypoplastic heart and has required a few extra steps in surgery not mentioned here. I've listed some of the complications she has endured. She's now 19 months old and will have her fourth open heart surgery between age 2 and 3. Every heart baby is different.
A klebsiella infection in her blood after her first open heart surgery which required six weeks of strong antibiotic treatment and kept her from being allowed food in her digestive system for a few weeks; she had to get all her calories through IVs in her tiny preemie veins, which really kept her from growing when she was young
Very large, crusty scars on her wrist and forehead from where the calcium leaked out of an IV and burned her tissue; she had to have calcium via IV because she wasn't allowed food due to the klebsiella infection
A chylothorax, or chyle leak, which required fat free formula for a few weeks so the space around her lungs wouldn't fill up with fatty fluid
A flat head from being kept in the hospital, unconscious and on her back for many weeks in the beginning of her life; she wasn't allowed to be on her stomach until she was over a year old; she had a helmet that helped a bit
Trouble drinking thin liquids without aspirating; she had to have her milk thickened to a nectar consistency, which meant she was never allowed to nurse; I pumped breastmilk for her, mixed in some special hypoallergenic formula so she could get enough calories, then mixed in a thickening agent and fed it to her in a bottle until her second open heart surgery
An obstruction between the left and right pulmonary artery which likely resulted from the first surgery when she was tiny - 4 lbs 11 oz, requiring an extra open heart surgery after the BT shunt and before the Glenn
A paralyzed left vocal cord from the second open heart surgery (the nerves that feed the vocal cords first enter the chest and wrap around the aorta, and vocal cord paralysis is common with certain types of surgical aorta reconstruction); she had to be fed through a tube that entered her nose, went down her throat and through her stomach, and opened into her small intestine
Constant barfing every day for months while she had the NJ tube which irritated her esophagus; because the food emptied into her intestines and not her stomach, she barfed stomach acid and not food
Frequently bleeding lips, chin, and neck and lesions in her esophagus from the stomach acid
A strong aversion to any food or flavor from not being allowed to eat for many months; she forgot how to eat and now has a therapist who is slowly working on getting her to taste things so she can learn how
A phobia of anyone wearing scrubs or a stethoscope (yes, really)
Very weak muscles; she has a physical therapist but still can't sit up on her own yet and cries a lot when on her tummy
Swollen upper body (noticeable in her head and arms) after the Glenn; her cardiologist said it might go away after the Fontan, or it might stay; they'll continue to monitor to make sure it's not indicative of too much fluid pressure in her lungs
Abigail has a good medical team with several specialist doctors and therapists. Lots of people work to make sure difficulties and concerns are addressed.
Abigail had her Fontan procedure in mid-July. Her recovery has taken longer than one would hope (it's now September and she's still in the hospital), but she's doing fine. I've noticed that her wrists are much less puffy than they were before the surgery. She's lost weight in the hospital, sure, but most of that puffiness was from swelling and fluid buildup. It seems that the surgery has already made a huge difference in that. Once the fluid around her lungs completely drains and doesn't get infected and she shows that she's gaining weight again, she can come home. :)
Step 7: Looking Forward
Please note that I used the word "treat" in this instructable, not "fix" or "cure." Currently, there is no cure for a heart with only one functional ventricle. We don't know how long a heart will last after the Norwood procedure. The first children to receive it are now 30 years old. Some problems have arisen, but there are options like a heart transplant for when the heart starts to fail.
Some people with a hypoplastic heart have very low energy and tolerance for physical activity. Some perform gymnastics and run in track and field.
As research continues and medicine improves, the prognosis for heart babies will continue to improve. Maybe in time, the artificial heart technology will get to the point where it can function in a human body for more than 5 years. Maybe we'll be able to grow new, healthy human hearts from stem cells.
It can be scary to find out your baby has a severe heart defect. I'm not one to tell anyone else to look at the bright side or to expect gloom and doom. Do what works for you, react the way your emotions tell you to, and consider punching any busybody that tells you how you should act or feel.
I don't know what tomorrow brings in any aspect of my life. I do know that I'm grateful for the time I have with my sweet daughter Abigail right now, and for the joy she brings our family.
Step 8: Final Update: Heart Failure and Hospice Care
I last updated this instructable in September of 2012, shortly before Abigail was determined to have diastolic heart failure. After a lot of pondering and discussion with her medical team at Primary Children's Medical Center, we determined that she likely wouldn't survive a heart transplant, the only treatment option for her heart failure.
We brought her home on hospice care. The doctors estimated that she only had a few months to live.
Things were very rough at first. I won't give details here, but she was very sick.
Abigail is still alive. She and her twin sister, Lilith, will turn 6 at the end of February of this year (2015). She's still on hospice care and still has heart failure, but she's been with us for far longer than the doctors had anticipated. We're so grateful for every day with our sweet girl. She still doesn't sit up on her own; low oxygen and blood flow leaves her muscles weak, and her sensory aversions have greatly hampered her physical therapy. She attends special kindergarten and adores her classmates, aides, and therapists.
Caregiving can take its toll. Josh, who has been a web developer for many years, recently became completely unable to work because of his crippling anxiety and depression. Even the idea of updating his (currently blank) website triggers panic attacks now. He's getting therapy, but it will likely take months for him to be able to heal enough to think clearly (and work again). I've seen a lot of articles on "preventing caregiver burnout" that talk about taking breaks, getting others to help out, etc. That's great for people who even have those options... but all our extra income went to medical bills. Josh made "too much money" for us to qualify for financial assistance. Insurance doesn't cover everything, and out of pocket max amounts are thousands of dollars per year. Three autistic children take a whole lot of energy and time, and I don't get breaks. My kids have panic attacks when I leave them. Josh's anxiety prevents him from being able to go elsewhere to "wind down" when he needs it. Now that we have no resources and no source of income, I'm at a complete loss. I've filed applications for government programs that might provide meager assistance, but haven't heard back yet. Even if we qualify, they won't provide enough to cover our monthly expenses (and we don't live lavishly by any stretch). I wish I had more resources to care for my sweet family. I believe that things will get easier one day. In the meantime, I'm so glad that my husband hasn't been institutionalized, that he does have a good psychologist in addition to our psychiatrist, and that all three of our children are still alive and with us.
I don't think resilience means never feeling overwhelmed, heartbroken, or scared about the future; if a person can still find bits of joy in the little things, those moments of happiness and hope can carry them through all kinds of adversity.