Also known as:
- Critical congenital heart defect
Critical congenital heart disease (CCHD) represents a group of heart defects that cause serious, life-threatening symptoms and requires intervention within the first days or first year of life. CCHD is often treatable if detected early. It can encompass abnormalities in the rhythm of the heart, as well as a wide array of structural heart problems. These problems can range from mild (never requiring cardiac surgery), to severe (requiring multiple different stages of open heart surgeries). CCHD can involve abnormal or absent chambers, holes in the heart, abnormal connections in the heart, and abnormalities in the function or squeeze of the heart. Most congenital heart conditions affect patients from childhood through adulthood.
Some babies affected with CCHD can look and act healthy at first, but within hours or days after birth they can have serious complications. Pulse oximetry newborn screening is a non-invasive test that measures how much oxygen is in the blood and can help to identify babies that may be affected with CCHD before they leave the newborn nursery. If detected early, infants affected with CCHD can often be treated and lead longer, healthier lives.
Information on specific critical congenital heart defects can be found on the Center for Disease Control website.
If your baby’s newborn screening result for critical congenital heart disease (CCHD) was out of the normal range, your baby’s doctor will be notified and further evaluation will take place before the baby leaves the hospital. It is important to remember that an out-of-range screening result does not necessarily mean that your baby has CCHD. An out-of-range result means that the baby’s test results showed low levels of oxygen in the blood, which can have many causes. However, since some babies do have the condition, it is very important that follow-up testing take place. Because the harmful effects of CCHD can develop shortly after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has a heart problem.
The baby’s doctor might recommend that the baby get screened with pulse oximetry again, will do a complete clinical assessment, or have more specific tests, like an echocardiogram (an ultrasound picture of the heart), EKG (electrocardiogram), or chest x-ray to diagnose CCHD.
Heart Smart: CCHD Screening for Parents (in Arabic)
Heart Smart: CCHD Screening for Parents (in Chinese)
Heart Smart: CCHD Screening for Parents (in French)
Heart Smart: CCHD Screening for Parents (in Russian)
Heart Smart: CCHD Screening for Parents (in Spanish)
About Critical congenital heart disease
Signs of critical congenital heart disease in infants include:
- Loss of healthy skin color
- Cyanosis (a bluish tint to the skin, lips, and fingernails)
- Rapid or troubled breathing
- Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
- Shortness of breath or tires easily during feedings
- Sweating around the head, especially during feeding
- Poor weight gain
Treatment for critical congenital heart disease (CCHD) depends on the type of heart defect present. If a CCHD is detected, you will meet with a pediatric cardiologist to talk about the findings and treatment options. Most heart defects can be corrected or improved with surgery, procedures and/or medications. The following are a few of the more common treatments used.
Catheter procedures are easier and less invasive than surgery. This procedure involves threading a long tube, called a catheter, through the blood vessels to the heart. This allows the doctor to take measurements and repair the problem in the heart. Catheter procedures are used to repair simple heart defects, and the process varies with each defect.
Surgery may be necessary if the heart defect cannot be fixed using catheter procedures. Sometimes one surgery is enough to repair the defect, but occasionally several surgeries are needed to fix the problem. Cardiac surgeons can use surgery to close holes in the heart, repair heart valves, widen arteries or openings to the heart valves, and repair other complex defects.
With early detection and treatment, infants affected with critical congenital heart disease (CCHD) can live longer and healthier lives. Most people affected with CCHD do need routine checkups to stay as healthy as possible. Some people affected with CCHD may have additional genetic problems, which may require treatment.
Babies affected with CCHD are at significant risk of disability or death if their CCHD is not diagnosed soon after birth.
The causes of critical congenital heart disease (CCHD) among most babies are unknown. Genetic and environmental factors appear to play roles and studies into causes are continuing.
Approximately 10% of babies with heart defects have these conditions because of changes in their genes or chromosomes. Scientists have identified 10 gene mutations, or changes, not involved with other birth defects that can impact congenital heart defects. Babies who are found to have CCHD may be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with CCHDs. Some of the genetic conditions that are common in children with CCHD include Noonan syndrome, velecardiofacial syndrome, Down syndrome, and Turner syndrome. Not all children who have CCHD will also have a genetic condition.
Environmental factors, such as drugs, illnesses, or chemicals, that a pregnant women is exposed to during pregnancy can affect how the baby’s heart develops. Some examples include infection with Rubella (German Measles), smoking, maternal obesity, maternal diabetes, and use of Accutane (taken to treat acne), Dilantin (used to treat seizures) or cocaine. Exposure to certain substances in the environments, such as paints, chemical solvent, and pesticides can contribute to congenital heart defects.
Support for Critical congenital heart disease
Support groups can help connect families who have a child or other family member affected with critical congenital heart disease with a supportive community of people who have experience and expertise in living with the condition. This organization offers resources for families, affected individuals, health care providers, and advocates.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor specializing in heart conditions (pediatric cardiology) or other medical resources in your community. A team of specialists can work with your child and family to create an individualized treatment plan.
There are many great resources that can provide you and your baby’s doctor with information on critical congenital heart disease (CCHD). The CDC has fact sheets, brochures, and parent guides on the importance of early screening and the treatment of critical congenital heart disease at http://www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html
Because some critical congenital heart disease is caused by genetic factors, you may want to talk with a genetics specialist. If a genetic condition is identified, a genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The ‘Clinic Services Search Engine’ offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the ‘Find a Genetic Counselor’ tool on the National Society of Genetic Counselors (NSGC) website are two good places for you or your baby’s doctor to use in identifying local specialists.
Carson was diagnosed with a CCHD in the newborn nursery during his final newborn assessment. Thanks to this early diagnosis and treatment, Carson is healthy. Read Carson’s story on the Little Hearts website.
If your family is affected by critical congenital heart disease and you would like to share your story, please contact us so other families may benefit from your experience.