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Atrial Septal Defect (Asd)

Overview

Atrial septal defect (ASD) is a birth defect in the heart. This means people are born with a hole in the wall separating the two upper chambers of the heart. This hole, called the atrial septum, causes more blood to flow through the lungs than usual.

Some ASDs are small and don't cause any problems. The body might fix these on its own during infancy or early childhood.

However, a large ASD that lasts a long time can harm the heart and lungs. In these cases, surgery may be needed to repair the hole and prevent future problems.

There are different types of ASDs:

  • Secundum ASD: This is the most common type. The hole is located in the middle of the wall separating the upper heart chambers.

  • Primum ASD: This type is in the lower part of the wall between the upper chambers. It sometimes happens with other birth defects in the heart.

  • Sinus venosus ASD: This is a less common type, found in the upper part of the wall. It often occurs with other heart structure problems present at birth.

  • Coronary sinus ASD: This rare type involves a missing part of the wall between the coronary sinus (a vein in the heart) and the left upper heart chamber.

Symptoms

Some babies born with an atrial septal defect (ASD), a hole in the heart, might not show any signs of the condition. However, problems might not appear until later in life, even into adulthood.

If symptoms do develop, they could include:

  • Shortness of breath: This is often noticeable during physical activity, like running or climbing stairs. It's because the heart isn't efficiently pumping blood throughout the body.
  • Feeling tired or weak: Again, this is frequently worse when engaging in any kind of exertion. The body isn't getting enough oxygen-rich blood to function properly.
  • Swelling in the legs, feet, or belly: This is called edema and can occur if the heart isn't pumping blood effectively. Fluid can build up in these areas.
  • Irregular heartbeat (arrhythmia): Your heart might beat too fast, too slow, or with an irregular rhythm. You might feel a fluttering or pounding sensation in your chest.
  • Skipped beats or palpitations: These are sensations of a quick, pounding, or fluttering heartbeat. You might notice a skipped beat or a feeling of your heart racing.

These are just some possible symptoms. If you have concerns about your heart health, it's important to talk to a doctor.

When to see a doctor

Babies born with serious heart problems sometimes have symptoms that show up right away or a little later.

If a baby is having trouble breathing, get immediate help—call 911 or your local emergency number.

It's important to contact a doctor if you notice any of these signs:

  • Trouble breathing: This can be especially concerning if it happens during play or exercise. A baby might seem like they're working very hard to breathe.
  • Getting tired easily: If your baby is easily exhausted, even after short periods of activity, it could be a sign of a heart problem.
  • Swelling: Notice if there's swelling in the baby's legs, feet, or belly. This swelling could be a sign of fluid buildup in the body, which can sometimes be linked to heart problems.
  • Irregular heartbeats: If you notice your baby's heart is beating very fast, very slow, or skipping beats, this is a serious concern and needs immediate medical attention. A quick, pounding heartbeat can also be a sign that something isn't right.

These are just some possible symptoms. If you have any concerns about your baby's health, talk to a doctor right away.

Causes

Understanding Atrial Septal Defect (ASD)

Doctors don't fully understand what causes atrial septal defect (ASD). ASD is a problem with the heart's structure that develops while a baby is growing inside its mother.

Several things might play a role in heart problems like ASD:

  • Changes in genes: Sometimes, a baby inherits a gene change that can increase the risk of heart defects.
  • Medical conditions: Some illnesses during pregnancy might affect the developing heart.
  • Medications: Certain medicines taken during pregnancy can sometimes increase the risk of heart defects.
  • Smoking: Smoking during pregnancy can be harmful to the developing baby and potentially increase the risk of heart problems.
  • Alcohol use: Drinking alcohol during pregnancy can be very dangerous and may increase the risk of heart problems in the baby.

The human heart has four chambers: two on top (atria) and two on the bottom (ventricles). Imagine the heart like a pump. The atria act like receiving rooms, collecting blood. The stronger ventricles then push blood out of the heart. Small gates, called heart valves, control the flow of blood through these chambers, making sure it moves in the right direction.

ASD is a hole in the wall (septum) between the heart's two top chambers (atria). This hole is present from birth. It's a type of congenital heart defect, meaning it's a problem with the heart's structure that's present at birth.

To better understand ASD, let's look at how a healthy heart works.

The heart's four chambers work together to move blood around the body. The right side of the heart receives blood from the body and pumps it to the lungs. In the lungs, blood picks up oxygen and gets rid of carbon dioxide. The left side of the heart then receives the oxygen-rich blood from the lungs and pumps it out to the rest of the body through the main artery, called the aorta.

Risk factors

A hole in the heart, called an atrial septal defect (ASD), can develop while a baby's heart is forming during pregnancy. This is a type of birth defect. Several things can raise a baby's chances of having an ASD or other heart problems at birth:

  • Rubella (German measles): If a pregnant woman gets rubella in the early months of pregnancy, it can increase the risk.
  • Diabetes: Having diabetes during pregnancy can also increase the risk.
  • Lupus: Women with lupus may have a higher risk.
  • Alcohol and tobacco use: Drinking alcohol or smoking during pregnancy can raise the risk of heart problems in the baby.
  • Cocaine use: Using cocaine during pregnancy is harmful and can increase the risk.
  • Certain medications: Some medicines taken during pregnancy, such as those used to treat seizures or mood disorders, might increase the risk.

Sometimes, heart problems run in families. This means a baby might inherit a risk of these conditions. If you or anyone in your family has had a heart problem at birth, it's important to tell your doctor or healthcare team. Talking to a genetic counselor can help you understand the chances of certain heart defects in future pregnancies. They can provide information and support.

Complications

A small hole in the wall between the upper chambers of the heart (atrial septal defect) might not cause any problems. Often, these small holes close on their own during a baby's first few months of life.

However, a larger hole can lead to serious issues. These problems can include:

  • Heart problems on the right side: The right side of the heart might have to work harder than usual, potentially leading to a condition called right-sided heart failure. This means the heart isn't pumping blood effectively.

  • Irregular heartbeats (arrhythmias): The heart might beat too fast, too slow, or with an irregular rhythm. This can cause discomfort and potentially more serious problems.

  • Stroke: Blood clots can form in the heart and travel to the brain, causing a stroke. A stroke is a serious medical event that can lead to permanent disabilities.

  • Early death: In severe cases, these complications can lead to death.

  • Lung problems (pulmonary hypertension/Eisenmenger syndrome): Sometimes, a large hole can cause increased pressure in the blood vessels leading to the lungs (pulmonary hypertension). This condition can gradually damage the lungs over a long period. In some cases, this condition is called Eisenmenger syndrome. This is more common with larger holes.

Fortunately, treatment can often prevent or help manage these complications. Doctors can address the hole and help the heart work properly again.

If you have an atrial septal defect and are pregnant, or thinking about getting pregnant, it's crucial to talk to your doctor or other healthcare provider right away. A large hole or its complications can make pregnancy riskier. A doctor might recommend fixing the hole before pregnancy to reduce these risks. Proper prenatal care is essential for a healthy pregnancy, even if the hole is small.

Prevention

Atrial septal defect (ASD) is a heart problem where a small hole exists between the upper chambers of the heart. Unfortunately, we don't fully understand what causes ASD, so preventing it isn't always possible. However, getting good prenatal care is very important for anyone with ASD or a family history of heart problems.

If you have an ASD, it's crucial to schedule a checkup with your doctor before trying to get pregnant. This appointment is vital for several reasons:

  1. Reviewing your current health: It's essential to talk about any medical conditions you have, such as diabetes or lupus. These conditions need careful management during pregnancy. Your doctor may need to adjust your medications or even stop some of them before you become pregnant. They'll explain the best approach for you.

  2. Discussing family history: If heart problems or other genetic conditions run in your family, it's a good idea to talk to a genetic counselor. This can help you understand your potential risks better. They can provide information and guidance specific to your family history.

  3. Checking for German measles (rubella) immunity: German measles, also called rubella, can be dangerous to a developing baby if a pregnant person gets it. In some cases, it can lead to heart problems in the child. Your doctor will likely check if you've had rubella or received the vaccine. If you haven't, they'll recommend getting vaccinated to protect both you and your future child.

By taking these steps, you'll be better prepared for a healthy pregnancy if you have an atrial septal defect or a family history of heart problems. It's always best to discuss your individual situation with your healthcare provider for personalized advice.

Diagnosis

Some heart problems called atrial septal defects (ASDs) are sometimes found in babies soon after birth. However, smaller ASDs might not be detected until later in life.

If a person has an ASD, a doctor might hear a whooshing sound, called a heart murmur, when using a stethoscope to listen to the heart.

Doctors use several tests to find out if someone has an ASD:

  • Echocardiogram: This is the most common test for ASDs. It uses sound waves to create pictures of the heart as it beats. These pictures show the shape of the heart's chambers and valves, and how well the blood is flowing through them. Think of it like an ultrasound, but for your heart.

  • Chest X-ray: A chest X-ray shows the overall condition of the heart and lungs. It can help doctors get a general idea of the heart's size and position.

  • Electrocardiogram (ECG or EKG): This simple and painless test measures the electrical signals that make the heart beat. It can tell doctors if the heart is beating too fast, too slow, or irregularly. Sometimes, irregular heartbeats, called arrhythmias, can be a sign of an ASD, but they can also be due to other reasons.

  • Cardiac Magnetic Resonance Imaging (MRI): This test uses magnets and radio waves to create detailed images of the heart. Doctors might use this if the other tests don't clearly show if there's an ASD.

  • Computerized Tomography (CT) Scan: A CT scan uses X-rays to create detailed images of the heart. It might be used if the other tests haven't provided enough information for a definite diagnosis. It's often used to get a more detailed picture of the heart and blood vessels around it.

These tests help doctors determine if an ASD is present and how serious it might be. This information helps them recommend the best treatment plan.

Treatment

How Atrial Septal Defect (ASD) is Treated

Atrial septal defect (ASD) is a hole in the wall separating the upper chambers of the heart. Treatment for ASD depends mainly on two things:

  1. The size of the hole: A small hole might not need any treatment at all. The body may close it on its own, and regular checkups might be enough.

  2. Other heart problems: If an ASD is present along with other birth defects, the treatment plan will be more complex.

When Treatment is Needed:

If the hole is medium to large or doesn't close on its own, a procedure might be necessary to fix it. However, if someone has severe high blood pressure in the lungs (pulmonary hypertension), fixing the ASD isn't usually recommended because it could make the problem worse.

Medicines for ASD:

While medicines can't fix the hole, they can help manage symptoms. Some common medicines used for ASD include:

  • Beta blockers: These help control the heart rate.
  • Anticoagulants (blood thinners): These reduce the risk of blood clots.
  • Diuretics: These help reduce excess fluid buildup in the lungs and body.

Procedures to Repair ASD:

There are two main ways to close an ASD:

  • Catheter-based repair: This is a less invasive procedure, often used for a specific type of ASD called a secundum ASD. A thin tube (catheter) is inserted into a blood vessel in the groin and guided to the heart. A small patch or plug is then passed through the catheter to seal the hole. The body's own tissues grow around the patch, permanently closing the hole. Large secundum ASDs might sometimes require open-heart surgery.

  • Open-heart surgery: This procedure involves making a cut in the chest to reach the heart. Surgeons use patches to close the hole. This approach is necessary for other types of ASDs, such as primum, sinus venosus, and coronary sinus ASDs.

  • Minimally invasive surgery: In some cases, surgeons can use smaller incisions than traditional open-heart surgery.

  • Robot-assisted heart surgery: This newer technique uses robotic tools for more precise and less invasive surgery.

After the Repair:

After any ASD repair, regular checkups and imaging tests are crucial to monitor for any complications, such as problems with the heart or lungs.

Long-Term Considerations:

People with large ASDs who don't have the hole closed often face more health challenges in the long run. They might have more difficulty with daily activities (reduced functional capacity). They also have a higher risk of developing irregular heartbeats and high blood pressure in the lungs (pulmonary hypertension).

Self-care

A heart-healthy lifestyle is crucial for everyone. This includes eating well, not smoking, maintaining a healthy weight, and getting enough sleep. If you or your child has an atrial septal defect (ASD), a hole in the heart, it's important to discuss these points with your healthcare team:

Exercise: Generally, exercising is good for people with ASDs. However, if your child or you need surgery to repair the hole, you might need to limit certain activities until the repair is complete. It's essential to talk to a doctor or other healthcare professional about what kind and how much exercise is safe for your individual situation.

Altitude Changes: Significant changes in altitude, like flying to high mountains or going to very high elevations, can be problematic for people with an unrepaired ASD. Higher altitudes have less oxygen in the air. This can affect how blood flows through the lungs. This change in blood flow can cause shortness of breath and put extra stress on the heart.

Dental Work: If you or your child has had ASD repair surgery, it's important to discuss dental work with your healthcare team. After this type of heart surgery, you might need to take antibiotics for a period of time, typically about six months. This is to help prevent infections from entering the bloodstream. This is especially important before any dental procedures. Your doctor can explain why this is important and tell you exactly how long to take the antibiotics.

Preparing for your appointment

Doctors specializing in heart problems present at birth, called congenital cardiologists, usually treat people with atrial septal defects (ASDs).

Getting ready for your appointment:

To help your doctor understand your situation, prepare a list of:

  • Symptoms: What are the signs you or your child are experiencing? When did you first notice these symptoms? For example, are there shortness of breath, chest pain, or any unusual tiredness? Be as specific as possible.
  • Personal Information: What major stresses, big life changes (like moving or a new job), or a family history of birth defects are important to your situation? This includes any heart problems your relatives have had.
  • Medications, Vitamins, and Supplements: List everything you or your child are taking, including vitamins, supplements, and any medicines. Write down the dose (how much) and how often you take each one.
  • Questions: Think about questions you want answered. Write them down.

Examples of questions for an ASD appointment:

  • What is the most likely reason for your symptoms?
  • Are there other possible explanations for what's happening?
  • What tests do we need to do to figure this out?
  • Is it possible the ASD will close on its own?
  • What are the different treatment options?
  • What are the risks of surgery to fix the ASD?
  • Are there any restrictions on physical activity?
  • Are there any brochures or other printed materials available? Do you have any website recommendations?

Your doctor will likely ask you questions like these:

  • Do you or your child have symptoms all the time, or do they come and go?
  • Do your symptoms get worse when you exercise?
  • Is there anything that seems to make the symptoms better or worse?
  • Does anyone in your family have a history of birth defects affecting the heart? (This includes close relatives.)

By preparing this information, you can have a more productive appointment and work with your doctor to understand your situation better.

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