Does your little one have this kind of heart problem? Let's learn about Endocardial Cushion Defect!

When your baby is born, you worry a lot about everything about him, don't you? Sometimes little ones can have congenital heart defects. One such, albeit a bit complicated, heart condition that is very important to be aware of is called Endocardial Cushion Defect (ECD) . The name may sound a little scary, but don't worry. Let's talk about this simply, in a way that you can understand, okay?

What is this Endocardial Cushion Defect?

Simply put, this is a defect in our little ones' hearts, which is congenital , that is, a defect that occurs while they are still in the mother's womb. Think of our heart as a house with four rooms. There are two rooms on the top floor (which we call the atria), and two rooms on the bottom floor (which are the ventricles). These rooms are separated from each other by walls (septums). Because of these walls, blood flows in an orderly manner, only in one direction.

Also, there are gate-like valves between these chambers that help blood flow in only one direction. In particular, the tricuspid valve and the mitral valve, which are located between the upper chambers (atria) and lower chambers (mitral chambers), must be perfectly formed.

However, in a baby with this endocardial cushion defect (ECD), the parts of the heart called endocardial cushions – the basic tissue that forms these walls and valves – do not develop properly. As a result, the walls that separate the chambers of the heart may not develop properly, or they may be completely absent. The two important valves we mentioned (tricuspid and mitral) may also not develop properly.

Now imagine, what happens when these divisions in the heart, these walls, are not working properly, and the valves, like gates, are not working properly? The order in which blood flows inside the heart is disrupted.

• More blood than normal flows into the baby's lungs , causing high blood pressure in the blood vessels inside the lungs (pulmonary high blood pressure).
• Because of this high pressure in the lungs, blood starts to flow in the wrong direction. Then , oxygen-rich, clean blood and oxygen-poor, dirty blood start to mix together .
• The heart has to work hard to pump blood with this disrupted blood flow. It's like climbing a mountain. Over time, this can weaken the baby's heart muscle.

Are there different types of endocardial cushion defect (ECD)?

Yes, there are several types of this condition, depending on the extent of the damage. Some babies may have problems only with the wall between the upper chambers of the heart (atria). Others may have problems with the wall between the lower chambers (ventricles). Sometimes both problems may occur together. Also, the defects in the mitral and tricuspid valves can vary.

This condition, called endocardial cushion defect (ECD), is also known as atrioventricular septal defect (AVSD) or atrioventricular canal defect .

This condition can sometimes be associated with other congenital heart defects. For example:

• Tetralogy of Fallot
• Double outlet right ventricle
• Transposition of the great arteries (transposition of the two major blood vessels in the wrong places)
• Patent ductus arteriosus
• Single ventricle (single ventricle)

How common is this condition?

If you look at the statistics in countries like the United States, about one in 1,800 babies born each year may have this endocardial cushion defect (ECD). Another important thing is that about 20% of people with Down syndrome have this ECD condition.

How does ECD affect my baby's body?

If this ECD condition is not managed properly, it can become increasingly severe and cause serious problems.

• Lung damage: As we discussed earlier, excessive blood flow to the lungs, increased pressure, and over time, can cause permanent damage to the lungs.
• Abnormal heart rhythm: The electrical activity of the heart is disrupted, and the heartbeat may become irregular.
• Congestive heart failure: A condition in which the heart becomes weak and unable to pump enough blood to the body.
• Eisenmenger syndrome: This is a very serious condition. The pressure in the lungs increases dramatically, causing the blood flow to completely reverse, causing oxygen-poor blood to circulate throughout the body.

In some severe cases, this condition can even be life-threatening .

Also, even after the defect is corrected with surgery, your child may be at risk of developing a heart infection called endocarditis . Therefore, doctors may recommend taking antibiotics before some dental procedures.

What are the symptoms of this condition?

Sometimes, babies with a partial endocardial cushion defect may not show any symptoms until they are very young. However, babies with a complete endocardial cushion defect (complete ECD) may develop symptoms within a few weeks of birth. It is important to keep an eye out for these signs:

• Fast heartbeat
• Pale or blue skin:Look for blue discoloration, especially of the lips, tongue, and fingertips. This is called cyanosis.
• Trouble eating and gaining weight: See if your baby is fussy, sweats after drinking milk, or is not gaining weight properly.
• Lack of energy: Is your baby always sleepy and not interested in playing?
• Fast or difficult breathing: Check to see if the baby's chest feels tight, is breathing rapidly, or if the chest goes inward when breathing.
• Frequent infections: Be aware of frequent infections, especially respiratory infections.

What causes this endocardial cushion defect?

The exact cause of endocardial cushion defect (ECD) is not yet known. However, it has been found to be strongly associated with Down syndrome . This defect occurs early in the development of the baby in the womb. The main problem is that the tissue called endocardial cushion that we talked about earlier does not develop properly. These are the walls and valves that later separate the chambers of the heart.

How do doctors diagnose this condition?

Your baby's doctor will first give your baby a complete physical exam . Then, if an abnormal sound (heart murmur) is heard when listening to the heart with a stethoscope, it could be a clue to this condition.

In addition, several other tests can be performed:

• Electrocardiogram (EKG/ECG): This tests the electrical activity of the heart.
• Echocardiogram: This is the most important test. It uses sound waves to take a picture of the heart. It can clearly see everything from the shape of the heart, to the holes in its walls and how the valves are working.
• Chest X-ray: This can check the size of the heart and the condition of the lungs.
• Heart MRI: Sometimes this test is done if more details are needed.
• Cardiac catheterization: In this procedure, a small tube (catheter) is passed through a blood vessel into the heart to measure the pressure inside the heart and take blood samples. This may be necessary before surgery.

The most important thing is to continue seeing your doctor during your pregnancy and have ultrasound scans.Getting it right. Sometimes, ECD can be detected before the baby is born, through a scan done while the baby is still in the womb (fetal echocardiogram). When this is known early, it is possible to plan for the necessary treatment to begin as soon as the baby is born.

How is this treated?

The main and best treatment for this endocardial cushion defect (ECD) is surgery. However, until the surgery is done, some medicines can be given to help the baby get stronger and gain weight. For example, diuretics (also called 'water pills') that reduce excess fluid in the body and digoxin (Cardoxin® or Lanoxin®) that helps to improve the functioning of the heart to some extent.

What happens after the surgery?

During the surgery, cardiac surgeons close the holes that are causing blood to leak between the chambers of the heart. They use a special patch to do this. Also, if the baby has only one valve, they will make two separate mitral and tricuspid valves from it. Sometimes, if the baby's mitral valve leaks, it can also be repaired or replaced if necessary.

This surgery can usually be performed on a baby between 3 and 6 months of age . However, if your baby has a complete endocardial cushion defect, it is important to have the surgery done before the baby is one year old . This is the only way to prevent permanent lung damage.

Sometimes a baby may be too sick or underweight to have a full operation. In that case, doctors will first do another, simpler operation to limit the amount of blood going to the baby's lungs. This is called pulmonary artery banding . This can help control symptoms until the baby is stronger and gaining weight. Then, at the appropriate time, the full repair can be done.

Are there any complications in the treatment?

As with any surgery, there are some complications that can occur after ECD surgery. However, most of the time, these can be managed.

• A mitral valve that leaks: Sometimes after surgery, the mitral valve may not close properly and some blood may leak backward.
• Abnormal heart rhythm: Some irregularities in the heartbeat may occur.

These problems can sometimes arise when the child is a little older, even in their youth. That's why regular medical checkups are important.

Can this situation be prevented?

Since the exact cause of ECD is unknown, it's difficult to say how to completely prevent it. However, if someone in your family has had this type of heart defect (ECD) or other genetic issues, it may be a good idea to get genetic counseling before you get pregnant.

If my baby has ECD, what should I expect?

This is the biggest question many parents have. The good news is that after surgery to correct ECD, most babies go on to live normal, healthy lives. However, a baby's future health depends on factors such as the severity of their ECD, whether their lungs have been damaged, and their overall health.

According to statistics, the chance of survival in the first year after surgery is about 80%. The chance of survival for another 10 years is about 75%, and the chance of survival for 20 years is about 65%.

Even after surgery, some children may develop complications later on. A common problem is that the mitral valve does not close properly and blood leaks. If this happens, another surgery may be performed to correct it.

How long does ECD status last?

This is very important. Endocardial cushion defect (ECD) is not a condition that will heal on its own. The problem will remain until a cardiac surgeon performs surgery to correct the defect. Without surgery, many babies will not survive beyond 2 or 3 years of age. That is why timely surgery is essential.

How do I take care of my baby?

After your baby is diagnosed with ECD, and even after surgery, your baby will need to have regular checkups with a cardiologist . These follow-up appointments may be once or twice a year. These checkups will continue throughout your child's childhood and into adulthood. This allows the doctor to monitor your baby's condition, see if there are any problems with the patch or valve, such as leaks, and intervene early if necessary.

When should I take my baby to the doctor?

If your baby shows any of the following symptoms, see a doctor immediately:

• Having a hard time breathing
• Getting tired without much effort after running and playing for a while
• Not growing or gaining weight as expected
• Having a blue skin tone

What questions should I ask my doctor?

It is very important to clear up any doubts you may have. Don't be afraid to ask your doctor questions like:

• "Doctor, does my baby have a complete or partial endocardial cushion defect?"
• "What treatment plan does the doctor recommend for my baby's condition?"
• "Doctor, how many ECD surgeries have you performed like this?"
• "What special things do I need to take care of after surgery?"

The most important things to remember (Take-Home Message)

You may not have ever dreamed of having surgery for your little one. However, surgery is the best and most effective way to correct an endocardial cushion defect (ECD). This problem will not get better on its own. So, if there is anything you don't understand, ask your doctor to explain it to you.

The most important thing is that you are not alone. Doctors, nurses, and the entire healthcare team are there to help you and strengthen you on this journey. Even after the surgery, do not miss your baby's clinics and follow the doctor's instructions as prescribed. That way, you and your little one will be able to identify any problems that may arise in the future and cope with them successfully. Stay strong!

` Endocardial Cushion Defect, AVSD, heart disease, birth defects, pediatric heart disease, heart surgery, Down syndrome, congenital heart disease, pediatric cardiology