The Heart & Down Syndrome

Approximately one-half of individuals with DS have congenital heart disease. That is a scary statistic! But, modern medicine steps up to the plate here, and with a 99% success rate for most heart surgeries, you can almost count on a home run!

Jett's AV canal defect remained undetected by his pediatrician until, at 5 month old, his pediatrician first heard a murmur. Four weeks later, he was in surgery. His heart is fully healed now, the correct size, shape and function of a typical heart.

These are the most common heart issues seen:

• Atrioventricular septal defect (also called endocardial cushion defect) with or without other lesions — 45 percent
• Ventricular septal defect with or without other lesions — 35 percent
• Isolated secundum atrial septal defect — 8 percent
• Isolated persistent patent ductus arteriosus — 7 percent
• Isolated tetralogy of Fallot — 4 percent
• Other (vascular ring) — 1 percent

Atrioventricular Septal Defect - AV Canal

About 15 percent to 20 percent of newborns with Down syndrome have an atrioventricular septal defects.

The primary defect is the failure of formation of the part of the heart that arises from an embryonic structure called the endocardial cushions. The endocardial cushions are responsible for separating the central parts of the heart near the tricuspid and mitral valves (AV valves), which separate the atria from the ventricles.

The structures that develop from the endocardial cushions include the lower part of the atrial septum (wall that divides the right atrium from the left atrium) and the ventricular septum (wall that divides the right ventricle from the left ventricle) just below the tricuspid and mitral valves.

The endocardial cushions also complete the separation of the mitral and tricuspid valves by dividing the single valve between the embryonic atria and ventricles. An atrioventricular septal defect may involve failure of formation of any or all of these structures.

AVSD Categories

Most commonly, atrioventricular septal defects can be classified into one of three categories called complete, partial (or incomplete), or transitional.

A complete atrioventricular septal defect is one in which there are defects in all structures formed by the endocardial cushions. Therefore, there are defects (holes) in the atrial and ventricular septa, and the AV valve remains undivided or "common."

A partial or incomplete atrioventricular septal defect is one in which the part of the ventricular septum formed by the endocardial cushions has filled in, either by tissue from the AV valves or directly from the endocardial cushion tissue, and the tricuspid and mitral valves are divided into two distinct valves.

The defect is, therefore, primarily in the atrial septum and mitral valve. This type of atrial septal defect is referred to as an ostium primum atrial septal defect, and is usually associated with a cleft in the mitral valve that may cause the valve to leak.

The transitional type of defect looks similar to the complete form of atrioventricular septal defect, but the leaflets of the common AV valve are stuck to the ventricular septum thereby effectively dividing the valve into two valves and closing most of the hole between the ventricles.

As a result, a transitional atrioventricular septal defect behaves more like a partial atrioventricular septal defect, even though it looks more like a complete atrioventricular septal defect.

Atrioventricular septal defect is also a common part of more complex heart disease that occurs in heterotaxy syndromes.

These forms of atrioventricular septal defects usually result in the common AV valve opening predominantly into only one of the ventricles with the other ventricle being underdeveloped. These situations are more accurately described as single ventricle lesions such as hypoplastic left heart syndrome or tricuspid atresia.

Atrioventricular septal defects can also occur with other types of congenital heart disease such as coarctation of the aorta or tetralogy of Fallot.

Problems With AVSD

The specific type of defect strongly influences the symptoms that may develop and the timing and details of surgical repair.

A complete atrioventricular septal defect allows oxygenated blood that has returned from the lungs to the left atrium and ventricle to cross either the atrial or ventricular septum and go back out the pulmonary artery to the lungs.

This re-circulation of blood to the lungs, called a left-to-right shunt, is inefficient because the left ventricle must pump a volume of already oxygenated blood back to the lungs while trying to meet the body's usual demand for its own oxygenated blood.

The amount of extra blood pumped by the left ventricle is often an additional 2-3 times that required of a left ventricle in an anatomically normal heart.

Because there is a large hole in the ventricular septum, the high pressure normally generated by the left ventricle to propel blood throughout the body is also transmitted to the lungs. Under normal circumstances, the lungs have a blood pressure much lower than that in the rest of the body.

The presence of a large left-to-right shunt and the associated increased workload on the left ventricle and high pulmonary artery pressure cause the lungs to become engorged with blood, and causes fluid to leak from the bloodstream into the air spaces of the lungs.

This condition is called pulmonary edema and makes it harder for a baby with this condition to move his or her lungs and breathe comfortably. The combination of increased heart and lung work uses large amounts of calories and results in the constellation of symptoms referred to as congestive heart failure (CHF).

Signs and Symptoms of AVSD

Babies with congestive heart failure breathe fast and hard, often sweat and / or tire out while feeding, and grow slowly or sometimes even lose weight. These symptoms usually develop gradually over the first 1-2 months of life.

The doctor will usually hear a loud heart murmur when this type of defect is present. The murmur is caused by the blood passing from the left ventricle to the right ventricle and out the pulmonary artery.

A small number of infants with a complete atrioventricular septal defect will not develop congestive heart failure. This occurs because in some cases, the muscle cells that line the small arteries to the lungs get bigger and constrict to try to protect the lungs from the extra flow and high pressure caused by the atrioventricular septal defect.

Called increased pulmonary vascular resistance (PVR) or pulmonary vascular disease, this condition is more common in infants with Down syndrome.

The increase in pulmonary vascular resistance is very effective in preventing the signs and symptoms of congestive heart failure by minimizing the amount of left-to-right shunt, and may even cause blood with low oxygen to go from the right ventricle to the left ventricle and out to the body without picking up oxygen.

This causes cyanosis, which is a bluish discoloration of the skin, fingernails and mouth and it may also cause the murmur to be softer.

While infants with a complete atrioventricular septal defect and elevated pulmonary vascular resistance often grow better and appear healthier than those with low pulmonary vascular resistance and congestive heart failure, the occurrence of increased pulmonary vascular resistance is an indication to proceed quickly with surgical correction of the defect.

Repair of the atrioventricular septal defect lowers the pressure in the pulmonary artery and allows these muscles to relax before they become permanently constricted.

Infants with the partial or transitional forms of atrioventricular septal defects have more subtle signs and symptoms. Like children with a complete atrioventricular septal defect, they have an increased volume of blood passing through the pulmonary artery.

The main difference between a left-to-right shunt that occurs primarily between the atria rather than the ventricles is that the pressure in the pulmonary artery usually remains low despite the increase in flow.

This causes less work for the heart and lungs and results in fewer breathing and growth problems. It also lessens the possibility that the pulmonary vascular resistance will increase.

Nevertheless, there is an increased workload on the heart and growth may occur more slowly than infants and children with normal hearts. There is usually a heart murmur present, but it is softer than that which occurs with a complete atrioventricular septal defect.

These types of defects may not come to medical attention until the child is several months or even years old because of the subtlety of the signs and symptoms that may be associated with them.

Significant congestive heart failure, growth failure or a very loud murmur in a child with a partial atrioventricular septal defect can occur when the defect in the mitral valve leaflet causes this valve to be very leaky.

Diagnosis of AVSD

A heart murmur is often the first clue that this heart defect exists. It is typically noted in the first week or two of life and it is not uncommon that no murmur is present at birth.

The diagnosis of atrioventricular septal defect in any form is easily made by echocardiography. Other useful tests include chest X-ray and an electrocardiogram. Both may show characteristic findings in atrioventricular septal defects.

Because of the high incidence of atrioventricular septal defects in infants with Down syndrome, all infants with Down syndrome should have an echocardiogram, even if they do not have a heart murmur or any of the signs or symptoms discussed above.

Treatment for AVSD

Symptomatic infants with atrioventricular septal defects may improve with medicine, but in all cases corrective heart surgery will be necessary.

Medicines commonly used to treat congestive heart failure from left-to-right shunts in infants include diuretics such as lasix (furosimide), angiotensin converting enzyme (ACE) inhibitors such as captopril, and digoxin.

These type of defects will never close on their own and will always require corrective surgery for treatment.

Medical treatment of infants with atrioventricular septal defects is usually used to relieve symptoms and allow the baby to get big enough to undergo surgical repair with lower risks.

This usually occurs at 3-6 months for infants with a complete atrioventricular septal defect and 6-18 months for infants with a partial atrioventricular septal defect.

Surgical repair of either type of defect involves closure of the holes in the atrial and / or ventricular septa with a patch or patches, and reconstruction of the common atrioventricular valve.

A particularly challenging aspect of the repair of a complete atrioventricular septal defect is dividing the common AV valve found in this condition.

Complications following surgery can arise if the opening in the mitral valve is now too narrow or it is still very leaky. Other problems to be avoided include narrowing the path for blood to pass from the left ventricle to the aorta, or disturbances of the electrical system of the heart.

The specialized tissue that conducts the impulse for the heart to beat runs very near the area where the stitches for the ventricular patch need to be placed. If this is disrupted, placement of a pacemaker may be necessary.

Atrioventricular Septal Sefects Treatment Outcomes

The usual recovery period following repair of a partial atrioventricular septal defect is relatively brief. Most patients are out of the Intensive Care Unit (ICU) in 1-2 days and home in 4-5 days following surgery.

Reported surgical survival is greater than 97 percent but is probably close to 100 percent in the current era.

Repair of a complete atrioventricular septal defect is often more complex and may be associated with other factors that can prolong the post-operative course.

In particular, the presence of elevated PVR pre-operatively can necessitate a prolonged time on a mechanical ventilator and the need for higher amounts of medication to help the heart work well after surgery.

Additionally, problems with the mitral valve being too leaky, the path out of the left ventricle being too narrow or with the electrical system of the heart are more common after this type of surgery.

Most patients require 2-4 days in the Intensive Care Unit after repair of a complete atrioventricular septal defect, and a 5-7 day hospital stay. Several reports suggest about a 90 percent survival after this type of surgery, but more recent experience is in the range of 97 percent.

The most common later problem that is seen following surgery is a leaky mitral valve which may require reoperation in up to 10 percent of patients, but most become medication-free and are able to lead essentially normal lives.

Follow-up visits with the cardiologist are important to assess valve and heart muscle function and continued antibiotic prophylaxis for endocarditis is recommended.

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Ventricular septal defect

Last reviewed: December 21, 2009.

Ventricular septal defect describes one or more holes in the wall that separates the right and left ventricles of the heart. Ventricular septal defect is one of the most common congenital (present from birth) heart defects. It may occur by itself or with other congenital diseases.

Causes, incidence, and risk factors

Before a baby is born, the right and left ventricles of its heart are not separate. As the fetus grows, a wall forms to separate these two ventricles. If the wall does not completely form, a hole remains. This hole is known as a ventricular septal defect, or a VSD.

Ventricular septal defect is one of the most common congenital heart defects. The baby may have no symptoms, and the hole can eventually close as the wall continues to grow after birth. If the hole is large, too much blood will be pumped to the lungs, leading to heart failure.

The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects.

In adults, ventricular septal defects are a rare but serious complication of heart attacks. These holes are related to heart attacks and do not result from a birth defect.

Symptoms

Patients with ventricular septal defects may not have symptoms. However, if the hole is large, the baby often has symptoms related to heart failure.

The most common symptoms include:

• Shortness of breath

• Fast breathing

• Hard breathing

• Paleness

• Failure to gain weight

• Fast heart rate

• Sweating while feeding

• Frequent respiratory infections

Signs and tests

Listening with a stethoscope usually reveals a heart murmur (the sound of the blood crossing the hole). The loudness of the murmur is related to the size of the defect and amount of blood crossing the defect.

Tests may include:

• Chest x-ray -- looks to see if there is a large heart with fluid in the lungs

• ECG -- shows signs of an enlarged left ventricle

• Echocardiogram -- used to make a definite diagnosis

• Cardiac catheterization (rarely needed, unless there are concerns of high blood pressure in the lungs)

• MRI of the heart -- used to find out how much blood is getting to the lungs

Treatment

If the defect is small, no treatment is usually needed. However, the baby should be closely monitored by a health care provider to make sure that the hole eventually closes properly and signs of heart failure do not occur.

Babies with a large VSD who have symptoms related to heart failure may need medicine to control the symptoms and surgery to close the hole. Medications may include digitalis (digoxin) and diuretics.

If symptoms continue despite medication, surgery to close the defect with a Gore-tex patch is needed. Some VSDs can be closed with a special device during a cardiac catheterization, although this is infrequently done.

Surgery for a VSD with no symptoms is controversial. This should be carefully discussed with your health care provider.

Expectations (prognosis)

Many small defects will close on their own. For those defects that do not spontaneously close, the outcome is good with surgical repair. Complications may result if a large defect is not treated.

Complications

• Heart failure

• Infective endocarditis (bacterial infection of the heart)

• Aortic insufficiency (leaking of the valve that separates the left ventricle from the aorta)

• Damage to the electrical conduction system of the heart during surgery (causing arrhythmias)

• Delayed growth and development (failure to thrive in infancy)

• Pulmonary hypertension (high blood pressure in the lungs) leading to failure of the right side of the heart

Calling your health care provider

Most often, this condition is diagnosed during routine examination of an infant. Call your infant's health care provider if the baby seems to be having difficulty breathing, or if the baby seems to have an unusual number of respiratory infections.

Prevention

Except for the case of heart-attack-associated VSD, this condition is always present at birth.

Drinking alcohol and using the antiseizure medicines depakote and dilantin during pregnancy have been associated with increased incidence of VSDs. Other than avoiding these things during pregnancy, there is no known way to prevent a VSD.

References

1. Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007.

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Atrial Septal Defect

This condition accounts for a third of the adult cases of congenital heart disease, occurring two to three times more frequent in women. It may occur in various positions in the atrial septum (see figure 20): 1) lower part, ostium primum, 15% of cases; 2) ostium secundum, in area of fossa ovalis (prior site of foramen avalis in the fetus, allowing both left and right atrium to communicate), 75%; 3) upper atrial septum, sinus (site of sinus or pocket where inferior vena cava (IVC) and superior vena cava (SVC) empty into right atrium) venosus, 10%. Most cases are due to spontaneous genetic mutations, but others are inherited. The results of these defects come from the shunting of blood from one atrium to the other. The direction and size of the shunting are determined by the size of the defect and compliance of the ventricles. A small defect less than 0.5 cm in diameter is associated with a small shunt and no significant sequelae. But a larger defect, more than 2 cm in diameter may be associated with a large shunt with important blood flow changes. In most cases with atrial defects, the right ventricle is more flexible than the left; thus, the left atrial oxygenated blood is shunted to the right atrium causing increased blood flow and enlargement of the atria, right ventricle, and pulmonary arteries (see figure 112a ).

For more see: http://www.rjmatthewsmd.com/Definitions/atrial_septal_defect.htm
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Sources:

http://www.uptodate.com/contents/classification-and-clinical-features-of-isolated-atrial-septal-defects-in-children?source=see_link

http://www.cincinnatichildrens.org/health/heart-encyclopedia/anomalies/avsd.htm

http://en.wikipedia.org/wiki/Ventricular_septal_defect

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002089/

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Preparing for Heart Surgery/Hospital Stay

Jett had his AV repaired as well as the valves when he was almost 6 months old. We went to the All Children's Hospital in St. Petersburg, FL. They did a fabulous job and the stay there (7 days) was as pleasant as it could be under the circumstances.

My advice would be first, to get your baby as healthy as possible and to keep him from getting sick beforehand. Hopefully, you have more than the four weeks that we had in order to prepare for surgery. To prevent sickness, get him on AIR tea. (You can get this from your local TCM [Traditional Chinese Medicine] practitioner $45-65 or amazon $16. The website is sjbherbs.com.) Also get cranial sacral work to open his nasal and ear canals from a osteopath, chiropractor or very good massage therapist.

Get the flora in his stomach in good order since he'll be getting antibiotics at the hospital. Probiotics and or fermented foods such as sugar free yogurt work well. A good way to sneak in fermented foods for an older baby is through fermented ketchup or vegetables. Avoiding white foods such as sugar, flour and starch will help ward off the bad bacteria as well. Don't be alarmed if he has diarrhea when he first gets home from surgery because of the antibiotics.

They will give a lot of medicines in small, needle-less syringes so I would get him used to taking them now, when it's not imperative that he takes it. Jett thinks its fun--all these different flavors to try. If you squirt it on the side of his mouth, it'll miss some of the taste buds. Before you give him anything, take a deep breath and smile. It's impossible to give it to a baby who refuses to cooperate, so you want to be as calm and positive as possible! You can get syringes for free from some pharmacies, otherwise you can buy them at CVS or Walgreens.

This is kind of weird, but since in the hospital, the baby is in a tall bed in the middle of the room with all this beeping noises and activity and lights, you can play "hospital sounds" to him during the day when he takes a nap so he can get used to sleeping with those sounds. And so they don't scare him. Also, if you move his changing table or crib in the middle of the living room (or busy area) he can get used to all the activity. (Of course you can do this closer to the surgery date.) Jett loves bright lights and meeting new people, but he did have difficulty sleeping and the beeping was very distracting.

Also, Jett was allergic to the hospital linens and I had happened to bring my laundry detergent so I was able to give them clean linens everyday. So I'd say to pack linens & your detergent just in case!

Bring some music he likes to listen to. It'll help calm him. Bring his favorite toys, blankets, books, etc. Things that he can do calmly.

If you don't massage him on a regular basis, I would start now. Jett was used to me handling him so it didn't bother him so much when the nurses had to stick electrodes on him and move monitors from one toe to the other, etc.

It would be good too to get him used to being "held down" for short periods of time. Like for the x-ray, they had to hold his arms over his head and hold his legs down. Jett was fine with this because my husband always holds his arms over his head and tickles under his arms. (The baby who was x-rayed before Jett screamed and screamed and screamed and screamed!)

The blood pressure cuff was what Jett hated the most. Maybe you could try to take his blood pressure from time to time so he's used to the constriction on his arms and legs? It's very important that they get a good blood pressure reading and if he's stressed, it messes with the results.

Jett was used to me singing to him so that was super helpful in calming him and distracting him especially when they took blood, blood pressure and inserted the IV. So, I'd pick at least three songs to sing to him when he's feeling calm and happy so he can have positive associations to you singing those songs during times of stress. I swear that, when I sang, he was an angel during the longest blood draw right before surgery.

Make sure that you are taken care of, especially if you're breastfeeding. You need to eat and sleep or you can't be 100% for him when he wakes up. You be there for your baby, but you need someone to be there for you! Try to delegate the duty of making sure you are fed (with healthy food) three times a day to someone else, if possible. That alone would be a big help since you may not want to leave your child's side unless he's asleep--or even if he is asleep since he may wake up and you're not there! (That's just me, though!)

Think of bringing things that you will need as well, like stuff that you would normally need when you are stressed: for your head, stomach, etc. Maybe chicken noodle soup is all you can eat when you are stressed, etc.

If he takes ginkgo or anything herbal with licorice in it for instance, make sure you stop taking it a week before surgery and a week after (ask to be sure). Omega-3s, such as fish and flax seed oil, are also blood thinners.

If he's on vitamins, I would keep giving it up until the last minute. Surgery is super stressful to the body, he needs as much nutritional support as possible. And, after surgery, I would pressure the nurses about continuing his vitamins (I should say to let them know how important the vitamins are to your child). At the very least, make sure he's getting antioxidants.

If you can possibly get his some B12 shots before surgery, that will help him because anesthesia depletes the body of the very necessary B12.

Don't be alarmed when he comes out of surgery and doesn't really know you or act himself for a couple of days. It takes a while for all the medications to wear off. He'll eventually get back to normal.

Jett was very happy and energetic right before we left the hospital and then got really crabby the first week back home. This is because he was still on some pain meds in the hospital and feeling really good. At home, he started to feel more uncomfortable.

It took Jett a bit to get back to his normal self. Before surgery, he was on time with all his milestones: he was rolling over and ready to move forward, but I think it took him a month to get all of his physical skills back. Tummy time was painful for him at first. He did seem to be in pain the first week back.

No one had mentioned to me about pain pills so I never gave him any. At his post surgery check up, the cardio said, "Don't be stingy with his pain meds!" I was embarrassed to tell her I didn't have any pain meds, but he wasn't in pain by then anymore. So be sure to ask!

The hospital Jett was in had breast pumps available. But you'll want to find out or bring yours just in case. Bring your baby's favorite bottle as well since he may not be able to breastfeed at first. If you pump your milk and have to store it at the hospital's milk bank, make sure you ask if you can take it home with you or donate it to a needy mom/baby.

Also, take notes, especially when the nurses and doctors are going through the discharge instructions. There's a lot to remember!

You may want to go over the new CPR instructions for a baby before you go. That way, if they show you, you can have a good basic knowledge so you can ask more intelligent questions and be able to pay better attention instead of it being the first time you've heard it.

Bring some clothes that snap all the way open so you can put it backwards on your baby. That way it can just lay over all the wires and bandages without having to pull it over his head or anything. This allows for easy access and prevents your baby from ripping out wires, etc.

There's controversy about whether or not you set your baby face down after surgery. I did, and he does have a "bump" under his scar rather than it being smooth. Some advise no tummy time for 4-6 weeks after. No one told me that the bump may happen or would be related, but a friend of mine's doctor did tell her this. My cardiologist said that it sometimes happens and that it doesn't cause any problems even though doesn't go away unless he has to have other surgery later and they can shave the bone down.

Also make sure that, if you do lay him face down soon after surgery, that his clothes have nothing on the front of them: no stitching, buttons, snaps, etc. so it won't rub against his wound.

Scar care
I put Schmoove lotion by Si Jin Bao on Jett's scar three times a day and it looks pretty good. (I'll have to take a picture.)

I recommend this book called Down Syndrome: What You CAN Do
You can get it right now, as a download for only $5. It has over 500 pages of great information and a very easy to understand section about the heart and DS.
http://stores.lulu.com/gotdownsyndrome

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