Congenital heart defects and CCHD

Congenital means that is born with. Congenital heart defects/ diseases(CHDs) are conditions that affects the heart’s shape or how it works, or both.Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy.CHDs are the most common types of birth defects, conditions that can cause problems in overall health, how the body develops, or in how the body works.Critical congenital heart disease (also called CCHD) is group of the seven most severe congenital heart defects. They may affect the shape of a baby’s heart, the way it works, or both. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly. It is estimated that 8-9 in 1000 babies (hardly 1 percent or 4,000 babies) is born with a heart defect in Kerala each year. Out of this about 1,000 babies each year are born with CCHD. Experts opinion that many heart defects don’t need immediate treatment or can be fixed easily. But some, like CCHD, can cause serious morbidity or death.

     If your paediatrician thinks that your baby has a congenital heart defect or critical congenital heart (CCHD), s/he can refer you to a pediatric cardiologist. This is a doctor who treats babies and children with heart problems. As per the current program your baby may be registered in the web portal so that the child is referred, followed up and tracked based on the guidelines and protocol.

How can heart defects affect your baby?

     Heart defects can affect different parts of your baby’s heart, including:

  • Septum: The wall that separates right and left sides of the heart.
  • Heart valves:Control blood flow to and from the heart by opening and closing at regular intervals.
  • Arteries and veins: Arteries (Aorta & Pulmonary Artery) are blood vessels that carry blood away from the heart to the body. Veins Pulmonary Veins, IVC & SVC) are blood vessels that carry blood from the body to the heart.

Heart defects can affect your baby’s heart functioning, blood flow with in the heart and to body parts, causing blood to:

  • Mixing of oxygenated blood with deoxygenated blood.
  • Go in the wrong direction or to the wrong place.
  • Be blocked completely.

What heart defects are part of CCHD?

These heart defects are part of CCHD

  • Hypoplastic left heart syndrome (also called HLHS)

What are other common congenital heart defects and how are they treated?

Other common congenital heart defects include:

  • Septal defects, like atrial septal defect (also called ASD) and ventricular septal defect (also called VSD).
    These defects leave a hole in the septum, which is the wall that separates the right and left atria and right and left ventricles. The atria are parts of the heart that receive blood coming from other parts of the body. Ventricles parts of the heart that pump blood out to other parts of the body. A hole in the septum can cause blood to go in the wrong direction or to the wrong place, results in mixing of oxygenated blood with deoxygenated blood. About half of all ASDs close on their own. Heart surgery and procedures with catheters (thin, flexible tubes) can fix medium and large ASDs. Heart surgery may be needed to fix VSDs.
  • Coarctation of the aorta (COA).
    In this condition, part of the aorta is narrow. The aorta is the large artery that carries blood from the heart to rest of the body. Having COA means the heart has to work harder to get blood through the aorta. COA is treated with balloon angioplasty. In this procedure, a provider uses a catheter with a tiny balloon to push open the aortic valve. Or he may treat it with a stent, which is a small mesh tube used to treat narrow or weak arteries. Babies with more severe COA need heart surgery.
  • Heart valve abnormalities.
    These happen when heart valves don’t close the right way or valves are narrow or blocked, so blood can’t flow smoothly. Mild heart valve abnormalities don’t need treatment. Procedures with catheters can treat many severe heart valve defects. Some may need surgery. ;

What causes congenital heart defects?

Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant. The scientific world is not quite sure what causes most congenital heart defects, but following things may play a role:'

Medical conditions in mom

  • Diabetes, a medical condition in which your body has too much sugar (called glucose) in your blood
  • Lupus, an autoimmune disorder. Autoimmune disorders are health conditions that happen when antibodies (cells in the body that fight off infections) attack healthy tissue just about anywhere in the body by mistake. Lupus may cause problems with a person’s heartbeat. 
  • Rubella (German measles) in the first 3 months of pregnancy
  • Being obese (very overweight). An obese person has a body mass index (also called BMI) over 30.
  • Phenylketonuria (PKU) and not following the PKU meal plan 

Changes in genes or chromosomes

Some babies have heart defects because of changes in their chromosomes or genes. Chromosomes are the structures that hold genes. Genes are part of your body’s cells that store instructions for the way your body grows and works. Genes are passed from parents to children. Researchers have found about 40 gene changes (also called mutations) that cause heart defects. About 30 in 100 babies (30 percent) with a heart defect also have a chromosomal condition or a genetic condition.
If you, your partner or one of your other children has a congenital heart defect, your baby may be more likely to have one, too. So you may want to meet with a genetic counselor. This is a person who is trained to help you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby's health.

Children with these chromosomal and genetic conditions are likely to have congenital heart defects:

Conditions in your everyday life (lifestyle and environment)

Some things in your life and environment (where and how you live) may increase your chances of having a baby with congenital heart defects. These include:

How do you know if your baby has a congenital heart defect?

Severe congenital heart defects usually are diagnosed during pregnancy or soon after birth. Less severe heart defects often aren’t diagnosed until children are older.

During pregnancy

Your provider may use a test called fetal echo to check your baby’s heart. This test makes a picture of your baby’s heart while still in the uterus (womb). You can have this test as early as 18 to 22 weeks of pregnancy.
You may need a fetal echo if:

After birth

Your baby may be tested for CCHD as part of newborn screening before he leaves the hospital after birth. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. All states require newborn screening, but they don’t all require screening for CCHD. Ask your provider if your state tests for CCHD.
Babies are screened for CCHD with a test called pulse oximetry (also called pulse ox). This test checks the amount of oxygen in your baby’s blood using a sensor attached to his finger or foot.
After birth, signs and symptoms of heart defects can include:

If your baby shows any of these signs or symptoms, call her health care provider right away. Your baby’s provider may use these tests to check for heart defects:

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