Atrioventricular Canal Defect

A birth defect called atrioventricular canal defect (AVSD), or endocardial cushion defect, affects the heart's central structure. This means the problem is present from birth. Babies born with this condition have a hole in the wall separating the top and bottom chambers of their heart. They also have issues with the heart valves, the tiny doors that control the flow of blood.

This hole allows too much blood to flow into the lungs. This extra blood puts a strain on the heart, making it work harder and causing the heart muscle to enlarge. Over time, without treatment, this can lead to heart failure and high blood pressure in the lungs, which can be very serious.

The usual treatment for AVSD involves surgery, typically within the first year of life. The surgery closes the hole in the heart and repairs the damaged valves. This helps the heart function normally and prevents further complications.

A heart condition called an atrioventricular canal defect affects how blood flows through the heart. It can impact just the top two chambers or all four chambers. In either case, the heart sends extra blood to the lungs.

The specific symptoms depend on whether the problem is a small (partial) or a large (complete) one. A small defect might not cause many noticeable problems, while a larger defect can lead to more noticeable signs.

A heart problem called an atrioventricular canal defect (AVCD) can develop in a baby while it's still growing in the womb. Doctors don't fully understand why this happens. One thing that might make a baby more likely to have this problem is if they have Down syndrome.

Certain factors can increase a baby's chance of having an atrioventricular canal defect (AVCD), a type of heart problem present at birth. Understanding these factors can help expectant parents make informed choices.

Family History (Genetics): Heart problems, like AVCD, can sometimes run in families. This is because they can be linked to specific genetic conditions. For example, children born with Down syndrome often have heart defects. This means that if there's a family history of heart problems or genetic syndromes, it's important to discuss the risks with a doctor.

Rubella (German Measles): Getting rubella during pregnancy can negatively impact how a baby's heart develops. If you're pregnant or planning to become pregnant, it's crucial to be vaccinated against rubella to reduce this risk.

Diabetes: Poorly controlled diabetes during pregnancy can affect the developing heart of a baby. This is especially true for women with type 1 diabetes. While gestational diabetes (diabetes during pregnancy) often doesn't significantly raise the risk of heart defects, it's still important to manage it closely with your doctor to ensure the best possible outcome for both you and your baby.

Alcohol Use: Drinking alcohol during pregnancy can increase the risk of heart problems and other birth defects in the baby. If you're pregnant or trying to get pregnant, avoiding alcohol completely is recommended.

Smoking: Smoking during pregnancy also increases the risk of congenital heart defects. If you smoke, quitting is one of the most important things you can do to improve your baby's health. Seek support from your doctor or other resources to help you quit.

Certain Medications: Some medications, when taken during pregnancy, can increase the risk of heart problems and other birth defects in the baby. It's essential to talk to your doctor about all medications you're taking, including over-the-counter drugs and supplements, before becoming pregnant or while pregnant. Your doctor can advise you on safe alternatives or appropriate dosages, if needed.

Atrioventricular canal defect (AVCD) is a heart condition present at birth. It can cause various problems.

One major complication is an enlarged heart. The extra blood flow from the defect makes the heart work harder, causing it to grow larger over time, just like a muscle that's used a lot. This extra strain can lead to problems later.

Another common problem is high blood pressure in the lungs (pulmonary hypertension). The hole in the heart allows oxygen-rich blood to mix with oxygen-poor blood. This extra blood flow to the lungs puts extra pressure on the blood vessels, leading to higher pressure in the lungs. Imagine a garden hose with a leak; the water pressure increases where the water is leaking out. This increased pressure can make it difficult for the lungs to work properly.

Repeated lung infections are also possible. The extra blood flow to the lungs makes the lungs more vulnerable to infections, just like being exposed to colds and other germs more often.

Untreated AVCD can lead to heart failure. The heart, struggling to pump blood efficiently, may eventually become too weak to meet the body's needs. This is like a car engine that's overworked and can't keep running smoothly.

While treatment for AVCD is very effective in childhood, some complications can still arise later in life.

• Breathing problems: Long-term lung damage from the increased pressure in the lungs can cause breathing difficulties.

• Irregular heartbeats (arrhythmias): Over time, the extra strain on the heart can disrupt the normal rhythm of the heartbeats. This can cause the heart to beat too fast, too slow, or irregularly.

• Leaky heart valves (valve regurgitation): The extra blood flow can damage the heart valves, causing them to leak, leading to less efficient blood circulation.

• Narrowed heart valves (stenosis): The heart valves might become narrowed, which is a similar problem to a leaky valve but in the opposite direction, restricting blood flow.

These problems can affect a person's quality of life, but with proper medical care and management, many people with AVCD can lead full and healthy lives.

Atrioventricular canal defect (AVCD) can't be prevented. There's no known way to stop it from happening.

Sometimes, heart problems run in families. This means they can be passed down from parents to children. If you or your family has a history of congenital heart defects (problems with the heart present at birth), it's a good idea to talk to a genetic counselor and a heart doctor (cardiologist) before you try to get pregnant. They can discuss your family history and help you understand any potential risks for your child.

A baby might be diagnosed with an atrioventricular canal defect (AVCD) before birth during a pregnancy ultrasound or special heart scan.

After the baby is born, signs of AVCD often appear in the first few weeks. A doctor listening to the baby's heart might hear a whooshing sound, called a heart murmur. This is a sign that blood isn't flowing through the heart properly.

Doctors use several tests to confirm an AVCD diagnosis:

• Pulse oximetry: A small sensor on the baby's fingertip measures how much oxygen is in their blood. Low oxygen levels can point to problems with the heart or lungs.

• Electrocardiogram (ECG or EKG): This painless test records the heart's electrical activity. Sticky sensors are placed on the baby's chest, connected to a machine that displays the results. This helps doctors understand how well the heart's electrical signals are working.

• Echocardiogram: This test uses sound waves to create moving pictures of the baby's heart. It can show if there's a hole in the heart, problems with the heart valves, or issues with how blood is flowing through the heart. This is a very important test for diagnosing AVCD.

• Chest X-ray: A chest X-ray provides a picture of the heart and lungs. It can show if the heart is enlarged or if there's extra fluid in the lungs. These are signs the heart might be struggling to pump blood efficiently.

• Cardiac catheterization: A thin, flexible tube (catheter) is inserted into a blood vessel in the baby's leg and guided to the heart. Dye is injected through the catheter to make heart structures show up more clearly on X-rays. Doctors can also measure the pressure inside different parts of the heart during this procedure. This is often used for more detailed information if other tests aren't enough to give a clear diagnosis.

These tests help doctors understand the severity of the defect and determine the best treatment plan for the baby.

People with atrioventricular canal defects (AVCDs) often need heart surgery. This defect is a problem with the heart's walls and valves, which aren't forming correctly. The surgery aims to fix the hole or holes in the heart wall and improve how the heart valves function.

The type of surgery needed depends on whether the defect is partial or complete, and any other heart problems the person has.

Partial AVCD: Surgery might focus on fixing a leaky mitral valve. If the valve can't be repaired, it might need to be replaced. This is like fixing a leaky faucet in your house.

Complete AVCD: Surgeons often need to divide the single large valve between the heart's upper and lower chambers into two separate valves (mitral and tricuspid). Sometimes, these valves also need to be replaced.

While many people only need one surgery, others may need more than one. Some people might need further surgery later in life to address problems like leaky heart valves.

After surgery, regular checkups with a cardiologist (a doctor specializing in heart conditions) are essential for life. The cardiologist will determine the frequency of appointments and any needed imaging tests.

Adults who had childhood heart surgery for an AVC may need to see an adult congenital cardiologist. This specialist is important for long-term care, especially if future procedures are planned. This is like having a specialist look after your house after renovations.

Congenital heart defects can sometimes increase the risk of infective endocarditis, an infection of the heart lining or valves. To lower this risk, some people might need to take preventive antibiotics before dental or other surgeries. This is especially important for individuals who:

• Have ongoing heart problems after surgery
• Have an artificial heart valve
• Have artificial materials (like a prosthetic valve) used in their heart repair

Always talk to your doctor or your child's doctor about whether preventive antibiotics are needed. It's crucial to discuss any concerns with your healthcare provider.