Truncus arteriosus is a rare and serious congenital heart defect—meaning it is present at birth. In a healthy heart, two major arteries carry blood away from the heart: the aorta, which supplies oxygen-rich blood to the body, and the pulmonary artery, which carries oxygen-poor blood to the lungs.
However, in truncus arteriosus, these two arteries fail to separate during fetal development. Instead, a single large blood vessel (truncus) comes out of the heart, carrying a mix of oxygen-rich and oxygen-poor blood to both the body and the lungs. This abnormal mixing leads to reduced oxygen delivery to the body’s tissues and organs, resulting in several symptoms shortly after birth.
Symptoms of Truncus Arteriosus
The signs and symptoms usually appear within the first few days of life, as the baby’s heart struggles to pump efficiently. Common symptoms include:
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Bluish skin, lips, and nail beds (cyanosis): Due to low oxygen levels in the blood.
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Rapid or heavy breathing: The heart works harder to meet the body’s oxygen demand.
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Poor feeding or sweating while feeding: Babies tire easily because of low oxygen and heart strain.
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Fatigue and lethargy: Lack of energy caused by poor blood oxygenation.
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Rapid heartbeat (tachycardia): The heart beats faster in an attempt to circulate more oxygen.
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Weak pulse: A sign of poor cardiac output and circulation issues.
If untreated, these symptoms worsen quickly and can lead to life-threatening complications such as heart failure or pulmonary hypertension.
Causes
Truncus arteriosus develops during the early stages of pregnancy when the baby’s heart is forming. Normally, a single large vessel divides into two separate arteries—the aorta and the pulmonary artery. In this condition, the division does not occur properly.
The exact cause is not always known, but certain factors may increase the risk:
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Genetic abnormalities: Conditions like DiGeorge syndrome (22q11 deletion) are linked to this defect.
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Maternal diabetes or viral infections during pregnancy (e.g., rubella).
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Environmental or lifestyle factors such as certain medications or exposure to harmful substances during pregnancy.
Because it develops in the womb, truncus arteriosus is not preventable after birth, but early prenatal care and screening can sometimes identify the problem before delivery.
Diagnosis
Truncus arteriosus is often detected soon after birth. In some cases, fetal echocardiography during pregnancy may reveal the defect.
After birth, doctors may suspect truncus arteriosus if a newborn shows signs of cyanosis or breathing problems. Diagnostic steps include:
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Pulse oximetry screening: Measures oxygen levels in the blood; low levels may indicate a congenital heart defect.
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Echocardiogram (ultrasound of the heart): The most reliable test to visualize the structure of the heart and confirm the presence of a single artery.
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Chest X-ray and ECG (Electrocardiogram): To check heart size, rhythm, and electrical activity.
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Cardiac catheterization: Occasionally done to gather more details about blood flow and pressure inside the heart.
Early diagnosis is crucial to plan immediate treatment and prevent complications.
Treatment
Surgery is the only effective treatment for truncus arteriosus. The operation is typically performed soon after birth to separate the blood flow to the lungs and the body.
The surgical repair involves:
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Separating the pulmonary arteries from the single truncus.
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Creating a connection (conduit) between the right ventricle and the pulmonary arteries to carry blood to the lungs.
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Reconstructing the aorta to carry oxygenated blood from the left ventricle to the body.
As the child grows, additional surgeries or catheter procedures may be needed to replace the conduit or make adjustments. Lifelong cardiology follow-up is essential to monitor heart function and overall health.
Prognosis and Long-Term Outlook
With early diagnosis and successful surgical repair, many children with truncus arteriosus go on to live active, healthy lives. However, ongoing care is necessary to manage potential complications such as:
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Valve leakage or narrowing
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Irregular heart rhythms
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Need for future surgical revisions
A healthy lifestyle, regular medical check-ups, and appropriate medications (if prescribed) help ensure the best long-term outcome.
Conclusion
Truncus arteriosus is a rare but serious congenital heart defect that requires prompt medical attention and surgical correction. Advances in cardiac surgery and neonatal care have greatly improved the survival and quality of life for affected infants. Awareness, early detection, and lifelong cardiac follow-up are key to managing this condition effectively.
For Enquiries: supportteam@pencis.
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