Pediatric Congenital Heart Disease

In this Article


Many congenital heart defects have very few, if any, symptoms. In fact, symptoms are often so mild that doctors may not detect them during a regular physical exam.

If a defect has symptoms, they depend on what kinds of defects your child has, as well as how many, and how severe they are. The most common signs and symptoms in newborns include:

  • Cyanosis [seye-an-OH-sis] (a blue tint to the lips, skin, and fingernails, caused by poor blood circulation)
  • Rapid breathing
  • Poor blood circulation
  • Extreme tiredness (fatigue)
  • Heart murmurs
  • Slow weight gain or growth (mostly in babies)

Severe heart defects can cause signs and symptoms, which are usually visible even in newborns. In newborns, you may notice that they:

  • Tire easily during feeding, tending to fall asleep early in the feeding
  • Breathe rapidly while resting or sleeping
  • Sweat during feeding, especially around the head
  • Have a puffy face, puffy feet, or both
  • Have a blue tint to the skin
  • Have chest pain, or other painful symptoms, not caused by congenital heart defects

When to See a Doctor

You should take your child to see the doctor if they have any of the symptoms listed above. Early detection can help prevent heart failure and gives your child’s doctors time to decide on the best type of treatment for your child, if needed.


Most of the time, doctors do not know what causes congenital heart defects. They may be passed from parent to child genetically, but this is not always the case.

Many times, children that have genetic disorders like Down Syndrome also have congenital heart defects.

Mothers that smoke while they are pregnant have a higher chance of having a child that has congenital heart defects. Doctors advise that all pregnant mothers should stop smoking as soon as they can, for the health of the unborn child.

Diagnosis and Tests

Pulse oximetry (“pulse ox,” for short) is a simple test that measures how much oxygen is in the blood. The doctor places a sticky strip, like a Band-Aid, on the baby’s hand or foot. The strip has a small red light that senses the oxygen level of the blood. The sensor is attached to a wire, which is attached to a monitor that shows the pulse ox reading.

A pulse ox test takes just a few minutes when a baby is still, quiet, and warm. The testing may take longer (or may need to be delayed) if a baby is squirming, crying, or cold. For this reason, your baby’s doctor may ask you to help keep your baby warm, calm, and quiet while the test is being done.


Treatment will depend on how bad the CHD is and if your child has any other birth defects in the heart or other parts of their body. You doctor will also base your child’s treatment on your child’s age and general health.

If your child needs treatment, your doctor may consider a catheter [CATH-et-er] or surgical procedure.

For catheter procedures, a small hole is opened in one of your child’s veins. A tiny, flexible tube is put through the vein and moved to the heart. There, the doctor can do many things, including repairing a hole in the heart, inserting stents, or placing balloons in an artery. If your child needs a catheter procedure, talk to your child’s doctor about what the procedure will include and what to expect.

Your child’s doctor may recommend open heart surgery if your child’s problems cannot be fixed using a catheter. This surgery will be performed by a cardiac surgeon, a doctor who specializes in heart surgery. Open heart surgery is done to close holes in the heart with stitches or a patch, widen arteries or openings in heart valves, repair or replace heart valves, and fix more severe problems with the heart (such as issues with where the blood vessels are placed, or how they are formed).

Although very rare, sometimes children are born with heart defects that are too severe to be fixed. These babies may need a heart transplant, which is where a child’s damaged heart is replaced with a healthy heart donated by the family of another child who has died.


Because doctors are not always sure what causes congenital heart disease in children, there are very few ways to prevent it. However, doctors do know that there is a strong link between smoking while pregnant and children that are born with these defects, which is one of the many reasons that doctors advise pregnant mothers to quit smoking.

What is Pediatric Congenital Heart Disease?

Congenital [con-jen-it-al] heart disease (CHD) refers to a problem that causes a change in blood flow through the heart. CHD is the most common birth defect, affecting about 8 out of every 1,000 newborns.

Congenital means “present at birth,” so a congenital heart defect developed before your child was born.

A serious CHD is called a critical congenital heart defect (CCHD). CCHDs need to be detected and repaired early in a baby’s life to help prevent other related health problems. Newborn screening with pulse oximetry [ox-EH-met-ree] can allow for early detection.

Although not common, CHD or CCHD can be caused by any of 4 heart defects

  • Pulmonary Stenosis. The valve between the heart and lungs becomes too narrow and stiff.
  • Ventricular septal defect (VSD). This is a hole that forms between the lower chambers of the heart.
  • Right ventricular hypertrophy. This is when the muscles that surround the lower right chamber of the heart become too thick.
  • Overriding aorta. This is when a major blood vessel (the aorta) is moved .

Each of these problems can cause oxygen-rick blood to mix with low-oxygen blood, causing reduced oxygen flow to the body and a blue cast to the skin. A combination of any of these 4 defects can cause another condition known as Tetralogy [tet-rol-oh-jee] of Fallot (TOF).