Truncus Arteriosus

Truncus arteriosus is a rare congenital heart defect that occurs when there is only one blood vessel arising from the heart, instead of the usual two separate vessels. This single vessel, known as the truncus arteriosus, arises from both ventricles and supplies blood to both the body and the lungs.

Causes and Risk Factors

The exact cause of truncus arteriosus is not fully understood, but it is believed to occur during fetal development when there is an abnormal formation of the heart. Certain genetic conditions, such as DiGeorge syndrome, can increase the risk of developing truncus arteriosus.

Symptoms

Infants with truncus arteriosus may exhibit symptoms such as:

• Shortness of breath or difficulty breathing
• Rapid breathing rate
• Poor feeding and weight gain
• Sweating, especially during feeding
• Pale or blue-tinged skin (cyanosis)
• Weakness or fatigue

Diagnosis

Truncus arteriosus is typically diagnosed in infancy using a combination of the following tests:

• Chest X-ray to evaluate the size and shape of the heart
• Echocardiogram (ultrasound) to visualize the heart's structure and blood flow
• Electrocardiogram (ECG or EKG) to assess the heart's electrical activity
• Cardiac catheterization to measure blood pressure and oxygen levels in the heart and lungs

Treatment

Surgical repair is usually necessary to correct truncus arteriosus. The goal of surgery is to:

• Separate the single blood vessel into two separate vessels, one for the body (aorta) and one for the lungs (pulmonary artery)
• Close any holes or defects in the heart
• Repair or replace any damaged or abnormal heart valves

Surgery is typically performed in infancy, and the type of surgery used may vary depending on the individual case. In some cases, multiple surgeries may be necessary to achieve optimal results.

Prognosis and Long-term Outlook

The prognosis for infants with truncus arteriosus has improved significantly with advances in surgical techniques and medical care. With successful surgery, most children can lead active and normal lives. However, they will require ongoing monitoring by a cardiologist to manage any potential complications or residual defects.