Overview
Truncus arteriosus is a rare congenital heart defect present at birth. In this condition, one large blood vessel leads out of the heart instead of two. This mixing of oxygen-poor and oxygen-rich blood reduces the amount of oxygen delivered to the body and increases blood flow into the lungs. Truncus arteriosus also usually includes a hole between the two lower heart chambers, known as a ventricular septal defect. The condition is life-threatening and requires surgery to repair the heart problems and fix blood flow, typically performed before the baby is 1 month old. Complications can include breathing problems, high blood pressure in the lungs, enlargement of the heart, heart failure, and other issues later in life. The exact cause of truncus arteriosus is often unclear, with genetics and environmental factors possibly playing a role.
Understanding the disease
Symptoms
Symptoms of truncus arteriosus usually occur in the first few days of life and include the following:
- Blue or gray skin due to low oxygen levels
- Excessive sleepiness
- Poor feeding
- Poor growth
- Pounding heartbeat
- Fast breathing
- Shortness of breath It is crucial to seek emergency medical care if a baby shows any of the following signs: blue or gray skin, fast breathing, shallow breathing, or any breathing trouble.
Risk Factors
Risk factors for developing truncus arteriosus include:
- Viral illness during pregnancy: Infections such as German measles (rubella) can cause problems with a baby's heart development.
- Poorly controlled diabetes during pregnancy: Proper control of blood sugar before and during pregnancy can help reduce the risk of heart problems in the baby. Please note that these risk factors are associated with truncus arteriosus, but the exact cause of the condition is often unknown. Genetics and environmental factors may also play a role in its development.
Development
Truncus arteriosus, also known as common arterial trunk, is a rare congenital heart defect present at birth. It occurs when one large blood vessel leads out of the heart instead of two. This mixing of oxygen-poor and oxygen-rich blood reduces the amount of oxygen delivered to the body and increases the amount of blood flow into the lungs. A person with truncus arteriosus also usually has a hole between the two lower heart chambers, called the ventricular septal defect. The exact cause of truncus arteriosus is often unknown, and it may be related to genetics and environmental factors.
Assessment and Diagnosis
Triage
If you have concerns about your baby's feedings, sleep patterns, or growth, or if your baby has any symptoms of truncus arteriosus, such as blue or gray skin, excessive sleepiness, poor feeding, poor growth, pounding heartbeat, fast breathing, or shortness of breath, you should contact your health care provider for an appointment. Additionally, seek emergency medical care if your baby has any of the following symptoms: blue or gray skin, fast breathing, shallow breathing, or any breathing trouble.
Diagnosis
To diagnose truncus arteriosus, a healthcare provider will typically perform a physical examination of the baby soon after birth. They will listen to the baby's heart and lungs to check for any abnormalities, such as irregular heartbeats or a whooshing sound, called a murmur. In addition, the following tests may be conducted:
- Pulse oximetry: This test measures the amount of oxygen in the baby's blood. Low oxygen levels may indicate a heart or lung problem.
- Chest X-ray: This imaging test can show the condition of the heart and lungs, including the size of the heart and the presence of extra fluid in the lungs.
- Echocardiogram: This test uses sound waves to create images of the heart, providing detailed information about the blood flow through the heart and heart valves. It is the primary test used to diagnose truncus arteriosus, as it can reveal the presence of a single large vessel leading from the heart and a hole in the wall between the lower heart chambers. Remember that a diagnosis of truncus arteriosus requires a comprehensive evaluation by a pediatric cardiologist, who specializes in heart conditions in children.
Management and Treatment
Complications
Potential complications of truncus arteriosus include breathing problems, high blood pressure in the lungs, enlargement of the heart, heart failure, pulmonary hypertension that gets worse, backward flow of blood through a heart valve (regurgitation), and heart rhythm problems (arrhythmias).
Treatment
Treatment options for truncus arteriosus typically involve surgical intervention to repair the heart defect and improve blood flow. In infants, surgery is generally successful if performed before the age of one month. However, there may be additional complications later in life that require ongoing medical management. In cases where surgery is not possible or has been unsuccessful, medications may be used to manage symptoms and improve blood flow. These can include medications to lower blood pressure in the lungs, improve blood flow, and manage any infections or complications that arise. It is important to consult with a pediatric cardiologist or a healthcare provider experienced in managing congenital heart defects to determine the best course of treatment for truncus arteriosus.