It’s always a shock to parents when I have to tell them that their child has a congenital heart defect.

But by the next follow-up visit, it’s equally amazing to me that they’ve learned about many other people in their family who also have congenital heart disease. Whether it is cousins, neighbors, or friends, it seems that people never notice the scar on the chest or talk about congenital heart disease until they meet someone who has gone through the same experience.

Piers Barker, MD, one of Duke Children’s pediatric cardiologists, tells us about what is going on and what to look for with congenital heart disease.

-- Dennis Clements MD, PhD, MPH

Piers Barker, MDWhy people don’t talk more about congenital heart disease always confuses me, but this exact scenario -- not knowing of the family’s heart history -- has happened so many times that I now include this as part of my discussion after making a diagnosis of congenital heart disease.

I suppose that one of the main reasons people don’t talk much about their children having congenital heart disease is the fact that the children can do so well. Even children with the most severe defects, such as hypoplastic left heart syndrome, look completely normal with a shirt on that covers the scar on their chest.

About Congenital Heart Disease

Congenital heart disease represents the most common congenital birth defect, occurring in about one out of every 100 babies.

Congenital heart disease also encompasses a wide spectrum of defects ranging from the very mild to the very severe. The good news is that almost all of these problems can be treated in some way to help the children live a normal life.

Congenital heart defects can affect every part of the heart -- not surprising since the heart has to develop from a simple straight tube into a complex four-chambered organ that pumps every minute of every day of our lives.

Some of the more common defects are listed below, although it’s not unusual for us to see many additional defects here at Duke.

(Click image to enlarge.)

• Ventricular septal defect (VSD) – this is a hole in the wall between the two pumping chambers (left and right ventricles), permitting mixing of the high oxygen containing blood (pink on the left side) and low oxygen containing blood (blue on the right side). Since the left ventricle usually has much higher pressure than the right ventricle and the lungs, more blood goes down the path of least resistance (to the lungs), resulting in excessive blood flow to the lungs and relatively less blood flow to the body. This will make it harder for the baby to breath, eat, and gain weight, symptoms that are called congestive heart failure in a baby.

• Atrial septal defect (ASD) – a hole in the wall between the two collecting chambers (left and right atria), again resulting in excess blood flow to the lungs. Since the pressure between the two atria are much lower, this results in less blood being “pumped” directly into the lungs, so symptoms develop much more slowly and any intervention can be performed much later.

• Valve stenosis – narrowing of one of the four valves in the heart (mitral, aortic, tricuspid, or pulmonary). The degree of narrowing may be trivial, mild, moderate, or severe.

• Valve regurgitation – leakage of one of the four valves in the heart, again with different degrees of severity.

• Coarctation of the aorta – narrowing of the major artery in the body that exits the heart and then both descends through the abdomen and ascends to the head. In this case there is a mechanical blockage of the blood flow to the body, resulting in congestive heart failure and shock at its most severe, and upper body hypertension in milder forms.

• Tetralogy of Fallot – the most common “blue baby” defect, caused by a combination of a ventricular septal defect and pulmonary stenosis. In this condition there is less than normal blood flow to the lungs, because of the blocked pulmonary valve, and consequently more mixing of the blue blood with the pink blood. While these children may appear relatively pink when very young or calm, they can have severe blue (hypercyanotic) spells when they cry or become dehydrated. This almost always requires surgery in the first six months after birth.

• Hypoplastic left heart syndrome – severe condition with inadequate growth of the left ventricle during pregnancy, resulting in a single functional pumping chamber (ventricle) and severe obstruction to blood flow to the body. The cause of this is unknown. Babies will usually go into shock at about two days of age, and require three different surgeries over the first three years of life to rearrange their heart to effectively pump the blood to their body.

Diagnosis

All of these and other congenital heart defects are diagnosed in two different ways – when the pediatrician hears a murmur or sees other signs suggestive of heart disease, or when a family history of congenital heart disease prompts a detailed ultrasound of the baby’s heart during pregnancy.

By themselves, murmurs aren’t any more specific than a rash, but to a pediatric cardiologist these murmurs can indicate the specific type of heart disease, or just the innocent sound of blood flowing through a normal heart. If there is any question, a detailed echocardiogram of the entire heart is performed.

At times, the heart disease may be so complex that additional tests may be necessary, such as cardiac catheterization (dye pictures through a catheter placed directly in the heart via one of the blood vessels in the leg), cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT) scan.

During pregnancy, fetal echocardiograms are the procedure of choice to diagnosis fetal heart disease, and can help prepare both the family and the medical team to look after the baby once it is born.

Treatments

Just as there are many different kinds of congenital heart defects, there are many different treatments.

If the murmur turns out to be the innocent sound of blood flowing through a normal heart, then the parents can be reassured and the child sent home. If the defect is very minor, such as a small ventricular septal defect, then the child may outgrow the defect as the hole will often close as the child’s heart grows. At other times, medication may be needed to treat the baby while the baby grows, again giving more time for the heart to develop and any holes or defects to close.

If the congenital heart disease is more serious, then catheter-based treatments or even cardiac surgery may be necessary, performed by other members of the Duke Pediatric Cardiac team with specialized training in these areas.

Our goal at Duke is for every child to have as normal a childhood as possible -- meaning going to school, learning to ride a bike, get in all sorts of trouble -- and be treated like any other child.

Certainly challenges remain, such as limitations for strenuous varsity level athletics, but every year we improve what we can do. Support groups such as Triangle Mended Little Hearts help us all connect and remind us of the wonderful potential of these children.

-- Piers Barker, MD, is a physician in Duke's Children's Division of Cardiology.

-- Dennis Clements, MD, PhD, MPH, is the chief of primary care pediatrics at Duke Children's Hospital.