The Heart and Children with Down Syndrome

Congenital heart disease (the presence of a structural heart defect at birth) occurs in 40 - 50% of children with Down syndrome and cardiac abnormalities are probably the most common malformations seen in trisomy 21. The most common heart defect (about 2/3) is called an endocardial cushion defect or atrioventricular canal defect. In its complete form there is a hole (defect) in the wall (septum) between the pumping chambers (ventricles)and a hole in the wall between the receiving chambers (atria) of the heart. In addition, rather than two valves inside the heart between the receiving and pumping chambers, there is a large single valve. This defect requires surgical repair, which involves closing both holes and creating two valves out of the one large valve.

This surgery is usually done in the first few months of life. Less common defects are the presence of a hole between just the ventricles (VSD) or between just the atria (ASD) and depending on the size of the hole, these defects may or may not require surgery. The holes do not get bigger with growth of the child and can spontaneously get smaller thus not requiring surgery. Children with Down syndrome may also be born with cyanotic congenital heart disease of be a "blue baby". Most commonly this is a defect called Tretralogy of Fallot, which is a complex structural problem that requires surgical repair and does not spontaneously fix itself. Timing of the surgery is dependent on how cyanotic (blue) the baby is.

Because congenital heart disease is so common, it is recommended that all children with Down syndrome have a full Pediatric Cardiology evaluation by 2 months of age. Also, it is well recognized that children with Down syndrome are at risk for developing damage in their lung arteries at an early age if they have a heart defect. There appears to be a number of reasons for this increased risk but it is critical to recognize the defect and do the repair early since the severe damage can be irreversible and progressive even after surgery. The timing of surgery is dependent on how the child is doing, however, as a rule it is done by 6 months of age and virtually always by one year of age.

Children with Down syndrome without anatomic heart disease also are at risk for the development of pulmonary hypertension, which is high blood pressure in the lung arteries. Usually when we think of blood pressure it is the pressure in the systemic arteries and is measured most commonly with a blood pressure cuff on your arm. The pulmonary artery pressure can sometimes be estimated by echocardiography but the only way to measure it directly is by placing a catheter into the lung artery during a heart catherization. If there is significant pulmonary hypertension, it places an increased work on the right ventricle, which can be detected on an electrocardiogram or echocardiogram. Again, thee appear to be a number of reasons for pulmonary hypertension in these children but one of the most significant is upper airway obstruction, especially during sleep.


Adapted with permission from the Tidewater Down Syndrome Association newsletter.

Comments

Left by Avrohom Yisroel Silver - Thursday, March 5, 2009

As a parent of a child who has just undergone major open heart surgery for many of the defects described in this article, I can tell you that it's very frightening. However, DON'T DESPAIR!!! Even though this surgery seems terrifying to us non-medics, the surgeons are used to it, and do it on a fairly routine basis. We are not even three weeks after the surgery, and yet our baby is like a new child. Instead of the pale, weak baby who never fed, we have (bli ayin horo) a smiling happy baby who looks healthy and feeds well. So if your baby is diagnosed with a heart defect, don't worry. He or she is in the hands of the Ultimate Doctor. It's rare for anything to go wrong with this sort of surgery, and it will make a huge difference to your baby.

Left by Avrohom Yisroel Silver - Sunday, May 23, 2010

Just to follow up my own comment, Chaya Devoira is now 20 months old, and is just adorable. Bli ayin horo, she's doing really well, and the heart problems are a thing of the past. Sure, we have occasional check-ups at the hospital, and they tell us that there is still a slight leak on one of the valves, but they assure us it's nothing major and may never even need attention. It doesn't even concern us now, we just accept it as a fact of life. The heart problems, the operation and hospital stays all seem a lifetime away now. We thank Hashem Yisborach every day for our little princess, and look forward to many years of joy from her IY"H. Hang in there, the nachas is amazing!

This article first appeared in issue #8 of Down Syndrome Amongst Us


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