Truncus Arteriosus

Truncus arteriosus is a rare birth defect in the heart. Babies born with this condition have a problem with the major blood vessels leaving the heart. Instead of two separate vessels, there's only one large vessel coming out. This single vessel means oxygen-rich blood (shown in red) and oxygen-poor blood (shown in blue) mix together. This mixed blood (shown in purple) doesn't have enough oxygen to support the body's needs.

This condition, sometimes called a common arterial trunk, is also often accompanied by a hole in the wall between the heart's two lower chambers (ventricles). This hole, called a ventricular septal defect, allows more blood to flow than usual.

The single large blood vessel causes a problem with how the heart pumps blood to the rest of the body. Oxygen-poor blood and oxygen-rich blood mix, reducing the amount of oxygen delivered to the body's tissues. This mixing also often leads to increased blood flow to the lungs. The heart has to work extra hard to compensate for these changes in blood flow.

Truncus arteriosus is a heart problem that usually shows up in newborns during the first few days. Babies with this condition often have noticeable symptoms. These include:

• Bluish or grayish skin: This happens because their blood isn't getting enough oxygen.
• Extreme tiredness or sleepiness: Babies might be unusually sleepy or hard to wake up.
• Trouble feeding: They might not want to eat or have difficulty feeding.
• Slow growth: Babies with truncus arteriosus may not gain weight as quickly as expected.
• A strong, fast heartbeat: You might feel a noticeable pounding or rapid heartbeat.
• Fast breathing: Babies might breathe rapidly or have difficulty catching their breath.
• Shortness of breath: They might show signs of struggling to breathe.

If you're concerned about your baby's feeding habits, sleep patterns, or growth, it's important to talk to a doctor. Schedule an appointment.

Get immediate medical help (call emergency services) if your baby shows any of these serious signs:

• Bluish or grayish skin: This is a critical sign of low oxygen levels.
• Fast breathing: Rapid breathing could indicate trouble getting enough air.
• Shallow breathing: If their breaths are very shallow or infrequent, it's an emergency.
• Any breathing problems: If your baby is having difficulty breathing, seek immediate medical attention. This includes coughing, wheezing, or gasping.

Early diagnosis and treatment are crucial for babies with truncus arteriosus. Don't hesitate to contact a healthcare professional if you have any concerns.

If you're concerned about your baby's feeding, sleeping, or growth, talk to a doctor or other healthcare provider. Schedule an appointment to discuss your concerns.

In a medical emergency, get immediate help if your baby shows any of these signs:

• Blue or gray skin: This can be a sign of serious trouble with breathing.
• Fast breathing: If your baby is breathing much faster than usual, it could indicate a problem.
• Shallow breathing: Shallow breaths mean the baby isn't getting enough oxygen.
• Any trouble breathing: This includes anything unusual, like wheezing, gasping, or difficulty breathing. If you notice your baby struggling to breathe, call 911 or your local emergency number right away.

Truncus arteriosus is a heart problem that develops while a baby is in the womb. Doctors often can't pinpoint a specific cause, but genetics and things the mother might have been exposed to during pregnancy could play a role.

To understand truncus arteriosus, it helps to understand how a healthy heart works. A normal heart has four chambers:

• Right atrium: This is the heart's upper right chamber. It receives blood from the body that's low in oxygen.
• Right ventricle: This is the heart's lower right chamber. It pumps the oxygen-poor blood to the lungs through the pulmonary artery. The lungs add oxygen to the blood.
• Left atrium: This is the heart's upper left chamber. It receives the oxygen-rich blood from the lungs through the pulmonary veins.
• Left ventricle: This is the heart's lower left chamber. It pumps the oxygen-rich blood out to the rest of the body through the aorta, the body's largest artery.

Normally, during pregnancy, the developing baby's heart forms a single large blood vessel called the truncus arteriosus that comes out of the heart. As the baby grows, this vessel usually divides into two: one part becomes the aorta (which carries blood to the body) and the other becomes the pulmonary artery (which carries blood to the lungs).

However, in babies with truncus arteriosus, this division doesn't happen correctly. The truncus arteriosus stays as a single vessel. A wall that normally separates the heart's two lower chambers (the ventricles) doesn't close completely. This creates a hole, called a ventricular septal defect (VSD).

Additionally, the valve controlling blood flow from the heart's lower chambers to the truncus arteriosus might not work properly. It might not close completely when the heart relaxes, allowing blood to flow backward, into the heart. This is called truncal valve regurgitation. This backward flow of blood puts extra strain on the heart.

Doctors don't know exactly why some babies are born with truncus arteriosus, a heart problem. However, certain things can make it more likely. These are called risk factors.

• Infections during pregnancy: Some infections, like German measles (also called rubella), can affect a developing baby's heart. Getting a check-up and taking care of any infections during pregnancy is important.

• Uncontrolled diabetes during pregnancy: Keeping your blood sugar levels stable before and during pregnancy is vital. If you have diabetes, talk to your doctor about managing your blood sugar carefully before trying to get pregnant. Good blood sugar control can help protect your baby's heart health.

• Medications taken during pregnancy: Some medicines can cause heart problems or other health issues in a baby. Be sure to tell your doctor about all the medications you take, even over-the-counter ones. They can help you find safer options if needed.

• Genetic problems: Sometimes, having extra or unusual chromosomes can increase the risk of truncus arteriosus. Conditions like DiGeorge syndrome (also known as 22q11.2 deletion syndrome) and velocardiofacial syndrome are examples of these genetic issues. If you have a family history of these or similar conditions, talk to your doctor.

• Smoking during pregnancy: Smoking significantly increases the risk of heart problems in a baby. If you smoke, quitting is extremely important for your baby's health.

• Alcohol use during pregnancy: Drinking alcohol during pregnancy can also increase the risk of heart problems and other health issues in a baby.

• Obesity: Being overweight or obese during pregnancy may increase the risk of your baby having heart problems. Maintaining a healthy weight before and during pregnancy can help reduce these risks.

It's important to remember that these are just potential risk factors. Many women experience these things and still give birth to healthy babies. If you have concerns, talk to your doctor. They can provide personalized advice and support.

Truncus arteriosus is a birth defect that significantly affects how blood circulates through the lungs, heart, and the rest of the body. This can lead to a range of serious problems in infants.

Problems in Infants:

• Breathing difficulties: Truncus arteriosus can cause extra fluid and blood to build up in the lungs, making it hard to breathe. This is because the blood isn't flowing properly between the heart and the lungs.

• High blood pressure in the lungs (pulmonary hypertension): In this condition, the blood vessels in the lungs narrow. This makes it harder for the heart to pump blood into the lungs, leading to increased pressure. The heart has to work much harder to push blood through these constricted vessels.

• Enlarged heart: The increased workload of pumping blood against the pressure in the lungs causes the heart muscle to enlarge. This enlarged heart becomes weaker over time.

• Heart failure: Eventually, the heart might not be able to pump enough blood throughout the body. This is heart failure, and it can result from insufficient oxygen supply and the heart's strain. Babies who have surgery to repair truncus arteriosus can still face heart failure complications later in life.

Potential Long-Term Complications:

• More severe pulmonary hypertension: Even after surgery, the pulmonary hypertension can worsen over time.

• Blood flowing backward through a heart valve (regurgitation): This happens when a heart valve doesn't close properly, allowing blood to flow backward.

• Irregular heartbeats (arrhythmias): These are abnormal heart rhythms that can lead to various symptoms.

Symptoms of Complications:

• Dizziness
• Fast, fluttering heartbeat
• Extreme tiredness
• Shortness of breath, especially during exercise
• Swelling in the belly, legs, or feet

Rare Cases and Long-Term Outcomes:

In some very rare cases, infants with truncus arteriosus might survive without surgery. If this happens, they are likely to develop heart failure and a condition called Eisenmenger syndrome as they get older. Eisenmenger syndrome is a serious complication caused by permanent damage to the blood vessels in the lungs. This damage severely restricts blood flow to the lungs, making breathing increasingly difficult. While some individuals with this condition may live into adulthood, their quality of life will likely be significantly affected due to ongoing health issues.

Truncus arteriosus, a birth defect of the heart, is sometimes difficult to prevent because its exact cause is unknown. However, getting good prenatal care is crucial. If you or a close family member has a heart condition present at birth, talk to your doctor before you try to get pregnant. You might need to see a genetic counselor and a heart specialist (cardiologist) to discuss your risks.

Planning a pregnancy with a heart condition in your family or personal history requires careful consideration. Taking the following steps can help keep your baby healthy:

• Get vaccinated: Certain infections, like German measles (rubella), can harm a developing baby's heart. A blood test before pregnancy can show if you're immune to rubella. If not, a vaccine is available. It's important to get vaccinated against other harmful infections as well.

• Discuss medications: If you're taking any medications, check with your doctor before getting pregnant or while pregnant. Many medicines aren't safe for pregnant women because they could harm the developing baby. Your doctor can help you find safe alternatives or adjust dosages if needed.

• Take folic acid: Taking a multivitamin containing 400 micrograms of folic acid daily is a good idea. Studies show that folic acid can help reduce the risk of birth defects affecting the brain and spine. It may also help decrease the risk of heart problems present at birth.

• Manage diabetes: If you have diabetes, work closely with your doctor to manage your blood sugar levels during pregnancy. Proper management of diabetes is essential for both your health and your baby's health during pregnancy. Your doctor will advise you on the best approach for controlling diabetes while you're pregnant.

Truncus arteriosus is a birth defect affecting the heart. It's usually discovered soon after a baby is born. Babies with this condition often look bluish or grayish, and they may have difficulty breathing.

Doctors immediately check a baby's breathing by listening to their lungs. In babies with truncus arteriosus, the doctor might hear extra fluid in the lungs during this check. Doctors also listen to the baby's heart for irregular heartbeats or a whooshing sound (called a murmur), which can also indicate the problem.

Several tests help diagnose truncus arteriosus:

• Pulse oximetry: A small sensor on the baby's fingertip measures the oxygen level in their blood. Low oxygen levels can be a sign of a problem with the heart or lungs.

• Chest X-ray: This picture of the chest shows the size and condition of the heart and lungs. It can reveal if there's extra fluid in the lungs, another sign of the condition.

• Echocardiogram (echo): This is the most important test for diagnosing truncus arteriosus. An echo uses sound waves to create a moving picture of the heart. It shows how blood is flowing through the heart and the heart valves. In a baby with truncus arteriosus, the echo shows a single, large blood vessel leaving the heart. It also usually shows a hole in the wall between the lower chambers of the heart.