Hridyam ❤ for little hearts

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)

In this condition, the left side of the heart doesn’t form fully, and the heart can’t properly pump blood. A baby with HLHS needs open heart surgery or a heart transplant. Open heart surgery is when the chest is cut open and surgery is done on a part of the heart. A heart transplant is surgery in which a damaged heart is removed and replaced with a healthy heart from another person. Some babies also need medicines to make their heart muscle stronger, to lower their blood pressure or to help the body get rid of extra fluids.
Pulmonary atresia (also called PA)

In this condition, a baby’s heart’s pulmonary valve doesn’t form properly. This means that enough blood can’t flow from the heart to the lungs. Treatment may include medicines to help blood flow, open heart surgery or heart transplant.
Tetralogy of Fallot (also called TOF)

Babies with this condition have heart defects that prevent enough blood from reaching the lungs. This means the blood that’s pumped to the body may not have enough oxygen. Babies with TOF need heart surgery and lifelong medical care.
Total anomalous pulmonary venous return (also called TAPV or TAPVR)

In this condition, the veins that take blood from the lungs to the heart don’t connect to the heart the right way. It causes blood to circle back and forth between the heart and lungs. But blood never flows out to the rest of the body like it should. A baby with this condition needs surgery as soon as possible. Without treatment, the heart can get bigger, leading to heart failure. Heart failure is when the heart can’t pump enough blood.
Transposition of the great arteries (also called TGA)

Babies with this condition have the positions of two important arteries switched. This means the blood that’s pumped to the body may not have enough oxygen. Babies with TGA need heart surgery and lifelong medical care.
Tricuspid atresia (also called TA)

In this condition, the heart’s tricuspid valve is missing or doesn’t develop normally. If this valve doesn’t open, enough blood can’t flow into the lungs to pick up the oxygen it needs. Babies with TA need surgery.
Truncus arteriosis

Babies with this condition have only one artery that leaves the heart instead of two. This causes blood with oxygen to mix with blood that doesn’t have oxygen. Babies with this condition need surgery because over time, they can develop a life-threatening problem called pulmonary hypertension. This is high blood pressure in the arteries to the lungs.

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:

Down syndrome. This condition includes a combination of birth defects, such as intellectual disabilities, heart defects, certain facial features, and hearing and vision problems.
Turner syndrome. This condition affects a girl’s development. Girls who have it are short, and their ovaries don’t work properly. Ovaries are where eggs are stored in a female’s body.
Noonan syndrome. This condition prevents normal development in different body parts. It may affect facial features and can lead to short height and heart problems.
Velocardiofacial syndrome (also called VCF). This condition can cause a combination of problems, like trouble fighting infections, kidney problems and cleft palate. Cleft palate is a birth defect in which a baby’s palate (roof of the mouth) doesn’t form completely and has an opening in it.
Alagille syndrome. In this condition, a baby has less than the normal number of bile ducts (tubes that carry bile) inside the liver. It can lead to liver damage and problems with the kidneys, eyes and other body parts.

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:

Smoking before or during pregnancy
Drinking alcohol during pregnancy
Taking certain medicines. Tell your provider about any medicine you take. This includes prescription medicine, over-the counter medicine, herbal products and supplements. Some medicines used to treat conditions, like acne, seizures or bipolar disorder (a kind of mental illness), may increase risk your baby’s risk of congenital heart defects. You may need to stop taking a medicine or switch to another medicine during pregnancy. Don’t stop taking any prescription medicine without your provider’s OK.

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:

Your provider finds a possible problem, like your baby has an abnormal heart rhythm, during an ultrasound.
You have a medical condition, like diabetes or lupus, that may play a role in congenital heart defects.
You have a family history of congenital heart defects or heart disease.
Your baby has a chromosomal condition, like Down syndrome, Turner syndrome or VCF.

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:

Fast breathing
Gray or blue skin coloring
Fatigue (feeling tired all of the time)
Slow weight gain
Swollen belly, legs or puffiness around the eyes
Trouble breathing while feeding
Sweating, especially while feeding
Abnormal heart murmur (extra or abnormal sounds heard during a heartbeat)

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:

Physical exam. Your baby’s provider listens to your baby’s heart and lungs with a stethoscope and looks for other signs of a heart defect.
Echocardiogram (also called an echo or a cardiac ultrasound). This is an ultrasound of the heart. It uses sound waves to create a moving picture of the heart. Your baby’s provider can see the heart beating and check the heart’s valves and other parts.
Electrocardiogram (also called EKG or ECG). This test records how fast the heart is beating and if its rhythm is steady or not. It can show if one of the heart’s chambers is enlarged.
Chest X-ray. This test makes pictures of your baby’s chest and organs, like the heart and lungs. It can show if the heart is enlarged. It also can show if the lungs have extra blood flow or extra fluid. Extra fluid in the lungs is a sign of heart failure.
Pulse oximetry.
Cardiac catheterization. In this procedure, your baby’s provider moves a catheter into a vein in your baby’s arm, groin (upper thigh) or neck. Once the tube moves into the heart, a special dye in the catheter flows into a blood vessel or one of the heart’s chambers. On an X-ray, the dye shows blood flowing through the heart and blood vessels. Your baby’s provider can see if blood is mixing between the two sides of the heart.