Disorder Name: Critical This means ‘present at or before birth.’ It usually refers to health conditions or birth defects that are present in a baby at or prior to birth. Heart Disease
- What is newborn screening for Critical Congenital Heart Disease (CCHD)?
- What is CCHD?
- What causes CCHD?
- What are the symptoms of CCHD?
- What are the treatments for CCHD?
- What happens when CCHD is treated?
- Is CCHD inherited?
- Is genetic testing available?
- Can you screen for CCHD during a future pregnancy?
- How many infants are born with CCHD?
- Can I prevent CCHD while pregnant?
- Does CCHD go by any other names?
- Where can I find more information?
This fact sheet has general information about Critical Congenital Heart Disease (CCHD). Every child is different and some of this information may not apply to your child specifically. Certain treatments may be recommended for some children but not others. If you have specific questions about CCHD and available treatments, you should contact your doctor.
WHAT IS A screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder. FOR CRITICAL CONGENITAL HEART DISEASE (CCHD)?
Newborn The process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages.
Newborn screening for CCHD by A pulse is the throbbing of blood vessels created by the beating of the heart. It can most easily be felt in the wrist and neck. oximetry is now done in all states in the United States.
What is Pulse oximetry measures a baby’s pulse and how much oxygen a baby has in his or her blood (called oxygen saturation). Babies who have low oxygen levels in their blood may have a critical congenital heart defect.?
Pulse oximetry is a simple, quick, and painless test used to help find babies who may have a CCHD. A pulse oximeter is a small device that measures a baby’s pulse and how much oxygen a baby has in his or her blood (called Oxygen saturation is a measure of how much oxygen the blood is carrying as a percentage of the most oxygen the blood can carry.). Babies who have low oxygen levels in their blood may have a CCHD, but they may also have a different cause for low oxygen saturation that is not a CCHD.
Why is pulse oximetry used to screen for CCHD?
Pulse oximetry is used to screen for CCHD because it can be easily done soon after a baby is born, and it is the best way to detect a CCHD along with the pediatrician’s physical exam. This should be completed after a baby is 24 hours (1 day) old.
A physical exam alone does not always detect CCHD since some CCHDs do not show outward symptoms. Ultrasounds done during pregnancy can be used to check the fetal heart. However, Ultrasound is an imaging method that uses high-frequency sound waves to create an image of structures within a person’s body. Also see fetal ultrasound. during pregnancy do not always detect all CCHDs.
If a baby does not pass their pulse oximetry screening or is suspected to have a CCHD, multiple pulse oximetry screenings may be completed before the baby is examined by the primary care provider/specialist at the hospital. A baby may also need additional testing such as an X-ray, an electrocardiogram (a test that records the heart’s electrical activity), or an echocardiogram (an ultrasound of the heart). The doctors will discuss the follow up care for the baby and any additional testing the baby may need. The baby may be referred to a pediatric A cardiologist is a doctor who specializes in the heart..
WHAT IS CCHD?
Critical congenital heart disease (CCHD) describes a group of heart defects that can cause life-threatening problems which need to be treated within the first days or first year of life. CCHD can usually be treated if found early. CCHD is a birth defect and this may be the easiest way to describe it to family and friends as you learn the details of your own child’s CCHD.
CCHD can be caused by different reasons including problems with the heart’s structure or an abnormal heartbeat. The heart is a very complicated organ with many structural components. If specific structures of the heart do not form properly during pregnancy, the result is a heart defect. Critical Congenital Heart Defects have varied severity. Some are severe and need many heart surgeries, others are less severe and need one heart surgery or catheter intervention, and some are somewhere in between.
CCHD can involve problems with the chambers of the heart, holes in the heart, abnormal connections in the heart, and abnormalities in how the heart functions. Most congenital (from birth) heart conditions affect people from childhood through adulthood. Here are a few examples of CCHDs:
- This is a condition when parts of the left side of the heart do not develop completely. Normally, the left side of the heart pumps oxygen-rich blood to the rest of the body. If the left side of the heart is not developed completely, there is not enough oxygen-rich blood in the body.
- Pulmonary atresia (with intact septum) is a heart defect present at birth with two main differences from a normal heart:
• The valve which allows blood to flow from the heart to the lungs – the pulmonary valve – is completely blocked, and
• The main pumping chamber on the right side – the right ventricle – has not developed normally.
- Tetralogy of Fallot is a condition caused by a combination of four heart defects that are present at birth:
• Ventricular septal defect or VSD- is a hole in the septum (or wall) between the heart’s two lower chambers – the ventricles.
• Pulmonary stenosis – is when the valve which allows blood to flow from the heart to the lungs –the pulmonary valve – cannot fully open.
• Right ventricular hypertrophy- is when the muscle of the main pumping chamber on the right side – the right ventricle – is thicker than usual.
• Overriding aorta- the main blood vessel that carries blood away from the heart – the aorta – is an overriding aorta when it is located in the wrong place, specifically when it is between the left and right ventricles, directly over the VSD.
- Total anomalous pulmonary venous return is a heart defect present at birth, where the veins leading from the lungs – the pulmonary veins – attach to the heart in abnormal positions.
- Transposition of the great arteries is a heart defect present at birth in which the two main blood vessels leaving the heart – the great arteries- are reversed.
- Tricuspid atresia is a heart defect present at birth in which one of the valves (tricuspid valve) between two of the heart’s chambers is not formed. Instead, there is a solid wall of tissue between the chambers.
- Truncus arteriosus is a heart defect that is present at birth in which one large blood vessel leads out of the heart instead of two large vessels coming out of the heart.
Some babies may have a combination of these heart defects. In this case, ask your doctor to explain the unique nature of your child’s heart defects. Remember that CCHD is as complex as the heart itself, and it may take time to fully understand your child’s unique heart defects.
WHAT CAUSES CCHD?
In most cases, the cause of CCHD is unknown. It is thought that both genetic and environmental factors likely play roles in the cause of CCHD. Approximately 10% of these heart defects are due to changes in a baby’s genes or A strand of DNA contained within a cell. Each chromosome contains many thousands of genes. In humans, there are a total of 46 chromosomes, half of which come from each parent. The combined total of all chromosomes in a cell is the genome.. A pregnant woman’s exposure to environmental factors, such as drugs or chemicals, can also affect how the baby’s heart develops. Finally, Having to do with the mother. conditions, such as diabetes during pregnancy, can affect the developing baby’s heart. However, your baby’s CCHD is not your fault, and as of today, there is no known way to prevent CCHD. You or your partner did not do anything wrong.
WHAT ARE THE SYMPTOMS OF CCHD?
The symptoms of CCHD range from moderate to severe. They can cause minor problems in some newborns and more serious health problems in others. Symptoms can begin to appear in the newborn period. However, some babies born with a CCHD may be healthy for the first days or weeks of life and only later begin to show severe symptoms that require emergency care. This is because the infant heart works differently before birth compared to after birth when the child becomes dependent on the lungs. Normal changes to the way the baby’s heart and lungs work after birth may lead to the symptoms and discovery of CCHD.
Newborn CCHD symptoms may include:
- blue color of the skin, lips, and nailbeds (cyanosis)
- rapid heartbeat
- poor feeding/sucking or feeding difficulties
- low birth weight or delayed weight gain
- excessive sweating (especially on the forehead)
- rapid breathing or shortness of breath
- Fatigue is a feeling of weariness, tiredness, or lack of energy. Fatigue can be a normal and important response to physical exertion, emotional stress, or lack of sleep. However, it can also be a sign of a more serious health disorder., abnormal drowsiness, Abnormal drowsiness.
- pale, cool, or clammy skin
- repeated Respiratory infections are any infection that occurs to the respiratory system. The respiratory system is the breathing system.
Even if treated correctly, some CCHDs can restrict the person’s ability to participate in sports or other high stress activities. Some individuals may have developmental delays, but most should be able to live a close to typical life. Many people with an isolated CCHD have finished college and have full-time jobs.
If left untreated, CCHD can cause serious chronic health problems that could lead to death at a young age. Many of the symptoms of CCHD can be controlled with medication and surgery. It is important that you see your doctor and follow a treatment plan tailored for your child’s needs.
WHAT ARE THE TREATMENTS FOR CCHD?
Babies born with a CCHD should be seen by a pediatric cardiologist and receive special care and treatment. Treatments can prevent death or disability early in life. The type of treatment recommended will depend on the type of CCHD that the baby has. For some children, special care may be needed throughout life. Sometimes, babies who have more than one medical problem may need additional treatments for their other medical problems.
WHAT HAPPENS WHEN CCHD IS TREATED?
Most children with CCHD will survive into adulthood following successful treatment and can lead normal or nearly normal lives. Exercise and other activities may be limited. Some children with CCHD may have developmental delays or learning difficulties.
IS CCHD Acquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes.?
Whether the CCHD is inherited or can happen again in your family depends on the cause of the CCHD:
Unknown cause: The exact cause of most CCHDs is not known. It is thought that genetics plays a role. Only a few genes have been linked to CCHDs. CCHDs are most likely due to both Relating to (or due to) genes and heredity or the field of studying genes and heredity. and environmental factors.
If CCHD is present in your family, there is an increased chance of having a child with a CCHD. However, this chance depends on the type of CCHD in your family and the number of family members who have a CCHD.
Genetic syndromes: Sometimes a baby’s CCHD is caused by a genetic syndrome that may include other health problems. These other health problems may or may not be obvious at birth or in infancy. Genetic syndromes can vary in their severity. As a result, people may have less serious or more serious health problems than other family members with the same genetic A group of symptoms and clinical findings that, when found together, make up a particular condition or disease.. In these families, the chance for another family member to have a CCHD can be as high as 50%.
Single A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases.: CCHD can be caused by changes in a single gene. Usually in these families, more than one person has a CCHD. In these families, the chance for another family member to have a heart defect can be as high as 50%.
Environmental exposure: CCHD can sometimes be caused by something the mother was exposed to in her pregnancy, such as an infection or certain drugs. If this is the case, the chance for another family member to have a heart defect may be low.
IS GENETIC TESTING AVAILABLE?
Genetic counseling is available to families or individuals with a CCHD. Genetic counselors and geneticists review medical information about the family and pregnancy of the person with the CCHD. They also do a physical exam of the person to try to determine the cause of the CCHD. Genetic testing may be offered to help figure out the cause. Sometimes more than one family member may be tested.
CAN YOU SCREEN FOR CCHD DURING A FUTURE PREGNANCY?
CCHD may be diagnosed before a baby is born. Fetal ultrasound and fetal echocardiograms are tools that can be used to screen for CCHD during pregnancy. An ultrasound done at 18-22 weeks of pregnancy can detect some CCHDs. A fetal Echocardiogram is a device that uses sound waves to produce images of a person’s heart. can be done at 20-22 weeks of pregnancy to give a picture of the chambers of the heart. Unfortunately, it is not possible to detect 100% of CCHDs using routine ultrasound and A fetal echocardiogram is an echocardiogram done during pregnancy. It is usually done between 20-22 weeks of pregnancy..
If a genetic cause has been identified in a child with a CCHD, DNA testing can be done before or during future pregnancies. Parents may also choose to use assisted reproductive techniques to decrease the chance that their future children would have CCHD.
During pregnancy, Deoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. testing can be done on a sample obtained by either CVS or This is a test done during pregnancy. A needle is used to remove a small sample of fluid from the sac around the fetus. The sample can be used to test for certain genetic disorders in the fetus. Amniocentesis to test for genetic conditions is usually done between 13 and 20 weeks of pregnancy.. Parents may choose to have DNA testing before or during pregnancy or wait until birth to have the baby tested. A These are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder. can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
HOW MANY INFANTS ARE BORN WITH CCHD?
About 2 in every 1,000 babies in the United States are born with CCHD. CCHD occurs in all ethnic backgrounds.
CAN I PREVENT CCHD WHILE PREGNANT?
Since little is known about what causes CCHD, there is no certain way to avoid having a baby with CCHD. However, if you are female and are pregnant or planning to become pregnant, you can reduce the risk by:
- Getting vaccinated against rubella and the flu.
- Taking at least 400 micrograms of a folic acid supplement every day during your pregnancy. Research shows that this will lower the risk of giving birth to a child with CCHD among other types of birth defects.
- Talking with a health care provider about medications during pregnancy, including herbal remedies and over the counter medication.
- Trying to avoid contact with people who are known to have an infection.
- Trying to avoid exposure to chemicals, such as those used in dry cleaning, paint thinners, and nail polish remover.
- Avoiding alcohol, smoking, and street drugs.
- Maintaining a healthy diet with good blood sugar control.
DOES CCHD GO BY ANY OTHER NAMES?
CCHD is also sometimes called:
- Critical Cyanotic Congenital Heart Defect
- Cyanotic Heart Defect
- Congenital Heart Defect
WHERE CAN I FIND MORE INFORMATION?
While in the hospital you can:
- Ask the hospital social worker for emotional support.
- Ask your primary care provider, nurses, or pediatric cardiologist for additional information and ways to talk with your family about your baby’s CCHD.
- Ask the social worker if your hospital has a support group.
- Ask the social worker about other families in your area who have a child or children with a CCHD.
- Talk to the hospital’s lactation consultant and social worker about your options for breastfeeding and storing breast milk while your baby is staying in the hospital or having a procedure.
For additional information and support, you can follow the links below:
Center for Disease Control and Prevention
National Heart, Lung, and Blood Institute
Children’s Heart Association
The Children’s Heart Foundation
Little Hearts, Inc.
Genetics Home Reference
|Reviewed by:||HI, CA, OR, and WA metabolic specialists|
|Review date:||June 2, 2020
January 31, 2013
|Update on:||June 2, 2020|
THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content (“Content”), including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET. This project is supported by a grant from the Maternal and Child Health Bureau, Health Resources and Service Administration, Genetic Services Branch, MCH Project #:UH7MC30774-01-00 http://mchb.hrsa.gov