14785 Truncus Arteriosus

Overview

Truncus arteriosus is a rare heart problem that a baby is born with. Normally, the heart has two large arteries leaving it: one sends blood to the lungs, and the other sends blood to the rest of the body. In a baby with truncus arteriosus, only one large artery leaves the heart, and it branches to both the lungs and the body. This mixes oxygen-rich and oxygen-poor blood, which makes it hard for the body to get enough oxygen.

No, this condition is rare. It affects about 1 in every 10,000 babies born.

It affects boys and girls equally. It is present from birth and is usually diagnosed in the first weeks or months of life.

Symptoms

Common symptoms

• Bluish tint to the skin, lips, or nails (cyanosis)
• Rapid or difficult breathing
• Poor feeding and slow weight gain
• Unusual tiredness
• Sweating while feeding
• Heart murmur (extra whooshing sound heard by a doctor)

Symptoms in children

• The symptoms listed above are most common in babies and young children
• Failure to gain weight or grow at the expected rate
• Breathing fast even when resting

Symptoms in older adults

• Most adults with this condition had surgery as children and need ongoing care
• Possible symptoms include shortness of breath, fatigue, irregular heartbeats, and swelling in the legs or ankles

Causes

Main causes

• The exact cause is not known for most babies
• Some cases are linked to gene changes, such as 22q11.2 deletion syndrome (sometimes called DiGeorge syndrome)
• It occurs when the large blood vessel that should divide into two during early heart development stays as one vessel

Risk factors

• A mother who has diabetes and is not well controlled during pregnancy
• Some infections during pregnancy
• Certain medicines taken during pregnancy
• Family history of congenital heart defects

When to see a doctor

See a doctor urgently if:

• If your baby has blue lips, trouble breathing, or is very hard to wake, call your local emergency number right away
• If your child has any new or worsening symptoms listed above, get medical help the same day

Book a routine appointment if:

• All babies have routine check-ups where a doctor listens to their heart
• Tell your doctor if you notice feeding problems or poor weight gain

Diagnosis

Doctors can diagnose truncus arteriosus before or after birth. It may be seen on a routine ultrasound during pregnancy, or it may be found after birth when a baby has symptoms or a heart murmur. A heart specialist (cardiologist) uses several tests to confirm the diagnosis and plan treatment.

Tests that may be done

• Echocardiogram (ultrasound of the heart)
• Chest X-ray
• Electrocardiogram (ECG) to check heart rhythm
• Cardiac MRI for detailed pictures of the heart
• Cardiac catheterization (a thin tube inserted into a blood vessel to check the heart's structure and pressure)
• Genetic tests to look for related conditions

What to expect at your appointment

If your baby is diagnosed with truncus arteriosus, the healthcare team will explain the heart problem and what to expect. They will likely refer you to a specialist children's heart center. You'll have time to ask questions and meet with a team that includes surgeons, cardiologists, and nurses.

Treatment

Surgery is the main treatment for truncus arteriosus. The goal is to create the two separate blood vessels and close the hole between the lower chambers of the heart. Surgery is usually done in the first few months of life. Before surgery, medicines may be given to help the baby stay stable.

Self-care at home

• Feed your baby in small, frequent feeds if they get tired easily
• Track your baby's weight and growth
• Keep all appointments with the heart team
• Protect your baby from infections with regular vaccinations, as recommended by your doctor

Medical treatments

Baby may need medicines to help the heart pump more effectively, to reduce fluid buildup, or to keep blood pressure in a healthy range. These medicines are given by the healthcare team and may be continued for a time after surgery. Never stop or change a prescribed medicine without speaking to a doctor.

When is surgery considered?

Surgery is usually performed when the baby is between 2 and 6 months old, depending on the hospital and the baby's overall health. Some babies may need surgery earlier if their symptoms are severe.

Living with this condition

After successful surgery, most children can take part in normal childhood activities, but they will need regular check-ups with a heart specialist for the rest of their lives. Some children may need repeated procedures as they grow.

Lifestyle tips

• Keep smoking away from the child, because smoke can make heart problems worse
• Encourage regular physical activity once your doctor says it is safe
• Practice good dental care to help prevent heart infections
• Learn how to give medicines correctly and keep a schedule

Diet and exercise

A healthy, balanced diet helps support normal growth. Breastfeeding or formula feeding is best for babies, as recommended by your healthcare team. As your child grows, offer fruits, vegetables, whole grains, and lean protein. Exercise is usually fine, but always follow the heart specialist's advice about how much and what kind is safe.

Mental health and emotional wellbeing

Living with a complex heart condition can be stressful for both the child and the family. It is normal to feel worried, anxious, or overwhelmed. Talk to your healthcare team about mental health support. They can help you find counseling or support groups.

Prevention

In most cases, truncus arteriosus cannot be prevented. It is a problem that happens during early heart formation. However, good prenatal care can help reduce some risks, such as managing blood sugar if you have diabetes and avoiding certain infections and medications during pregnancy.

Vaccines

There is no vaccine that prevents this condition, but keeping up to date with recommended childhood vaccinations is very important for a child with a heart defect. Vaccines help prevent infections that could be dangerous for a child with heart problems.

Screening programmes

Some cases are seen on a routine pregnancy ultrasound. However, not all cases are caught before birth. After birth, doctors can see it using heart tests.

Complications

If left untreated

• Heart failure, where the heart cannot pump well enough to meet the body's needs
• High blood pressure in the lungs (pulmonary hypertension) that damages lung blood vessels
• Growth and development problems
• Infections inside the heart (endocarditis)
• Dark blue skin and low oxygen over time

Long-term outlook

With early surgery and ongoing care, the outlook for children with truncus arteriosus has improved dramatically. Many children grow, learn, and lead active lives. They will need lifelong monitoring by a heart team, but most families find that the condition can be managed well. Your healthcare team will be with you at every step.

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