General Condition Information
- Congenital heart defects
- Critical condition heart disease
- Critical congenital heart defect
- Critical congenital heart defects
- Approximately 7,200 babies are born with a critical congenital heart defect each year in the United States.
- Visit the Centers for Disease Control and Prevention to learn more about how often this condition occurs.
What is Critical congenital heart disease
Critical congenital heart disease (CCHD) is a group of serious heart conditions present at birth.
Your heart pumps blood through your body. Your lungs take oxygen from the air you breathe and send it to your blood. Your heart takes this oxygen-rich blood and sends it to the rest of your body. One of the first signs of CCHD is that the oxygen in blood drops to low levels.
Children with CCHD are born with hearts that are not formed correctly. Sometimes as the heart develops, holes are left behind (septal defects). Other times, one of the valves that separates different parts of the heart is missing (atresia). There are other problems as well that involve the parts of the heart being too narrow or small or not connecting correctly.
When your baby’s heart is not able to deliver enough oxygen or other important substances to their body, this leads to the signs and symptoms of this condition. Babies with CCHD need special care and treatment early in life.
Newborn Screening and Follow-Up
Newborn screening for CCHD is done by measuring the oxygen levels in your baby’s body. To learn more about this process, visit the Pulse Oximetry Screening page.
During screening, a special piece of equipment called a pulse oximeter measures how much oxygen is in your baby’s blood. Oxygen is important for the body to function. Babies with low oxygen levels might have CCHD.
If your baby’s pulse oximetry result for CCHD shows low oxygen levels, your baby’s health care provider will let you know right away. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has CCHD. It does mean that your baby needs more follow-up testing. All babies with low blood oxygen during screening need follow-up testing. This testing will determine why the baby’s oxygen levels are low and if the heart and lungs are working well.
Your baby may need any of the following tests after an out-of-range screening result:
- Repeat pulse oximetry screen
- Ultrasound picture of the heart (echocardiogram)
- Test of the heart’s electrical signals (electrocardiogram, ECG or EKG)
- Chest X-ray to look at the heart and lungs
- Blood tests to look for infections
- Tests to see if their lungs are working correctly
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.
Not every baby with low blood oxygen during screening has CCHD. Sometimes, oxygen levels can be low for other reasons, including:
- Screening too early, before the baby is 24 hours old
- Illness that affects breathing, such as a respiratory infection
- Lung disorders
It is also important to know that not every baby with CCHD will have low oxygen levels. Other signs of CCHD may include:
- Too fast or too slow heart rate
- Overly sleepy or fussy
- Pale or blue skin
- Breathing too fast or too slow
- Cold body temperature
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Some babies born with CCHD look and act healthy at birth but have serious symptoms just hours or days later. Parents should be on the lookout for early signs of CCHD in their babies.
Early signs of CCHD include:
- Loss of healthy skin color
- Blue color to the skin, lips, and fingernails (cyanosis)
- Rapid or troubled breathing (tachypnea)
- Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
- Shortness of breath or getting tired easily
- Sweating around the head
- Poor weight gain
It is not known what causes CCHD in most cases. It can sometimes be caused by changes in genes that give instructions to the body for how the heart is formed.
CCHD can also be caused by environmental factors like certain chemicals or drugs, infections, or other conditions in the baby or mom.
CCHD is often a sporadic condition, meaning it usually happens to families with no history of heart defects. If you have a child with CCHD, that child’s siblings and any future siblings have a higher chance of having CCHD.
In some cases, CCHD occurs as part of a genetic syndrome, like Down syndrome or 22q11.2 deletion syndrome (also called DiGeorge syndrome). In these cases, there are usually other parts of the body that also have health issues.
Genetic counselors and medical geneticists can help families learn about the genetics of CCHD and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
Babies with CCHD need treatment, like surgery or other care, early in life. The type of treatment a baby needs depends on the baby’s heart problem and symptoms. A cardiologist (heart doctor) works with the families of babies who have CCHD to make sure they get the best possible care.
Children who receive early and ongoing treatment for CCHD can have healthy growth and development.