14779 Pulmonary Atresia

Overview

Pulmonary atresia is a heart defect that is present from birth. The pulmonary valve — the opening that lets blood travel from the heart to the lungs — does not form correctly. As a result, blood cannot reach the lungs to pick up oxygen, which can cause low oxygen levels in the body.

Pulmonary atresia is rare. It is one of several types of congenital heart defects that affect a small number of babies each year.

It affects babies from birth. It can occur on its own or with other heart problems. It is diagnosed in newborns or sometimes before birth during a pregnancy ultrasound.

Symptoms

Common symptoms

• Bluish color of the lips, skin, or nail beds (called cyanosis)
• Fast or difficult breathing
• Poor feeding and slow weight gain
• Tiredness or sleepiness
• A heart murmur (an extra sound heard with a stethoscope)

Symptoms in children

• Children who have had surgery may still have some breathlessness with activity.
• They may need to take medicines to help the heart work well.
• They will need regular check-ups with a heart specialist (cardiologist).

Symptoms in older adults

• Adults born with pulmonary atresia may have had surgery in childhood and need lifelong cardiology follow-up.
• Some may develop abnormal heart rhythms, heart failure, or other heart-related problems as they age.
• Each person's situation is unique, so ongoing care is important.

Causes

Main causes

• The exact cause of pulmonary atresia is not known.
• It happens during early heart development in the womb, before many women know they are pregnant.
• It is not caused by anything the mother did or did not do.

Risk factors

• Certain genetic conditions, such as DiGeorge syndrome, are linked with pulmonary atresia.
• A family history of congenital heart disease may slightly increase the risk.
• Some cases occur without any known risk factors.

When to see a doctor

See a doctor urgently if:

• If your baby has a blue spell, call your local emergency number right away.
• If your child is breathing fast or struggling to breathe, seek urgent care.
• If your baby is not feeding well or is unusually sleepy, contact your healthcare provider immediately.

Book a routine appointment if:

• Attend all scheduled check-ups with your heart specialist.
• Tell your child's doctor about any new symptoms, even if they seem mild.
• Ask about when your child needs echocardiograms and other heart tests.

Diagnosis

Pulmonary atresia is often found during a pregnancy ultrasound, but it may also be diagnosed after birth when a baby has signs of low oxygen or a heart murmur.

Tests that may be done

• Pulse oximetry — a sensor on the skin to check oxygen levels
• Echocardiogram — an ultrasound that looks at the structure and function of the heart
• Electrocardiogram (ECG) — a test that records the heart's electrical activity
• Chest X-ray — to look at the size and shape of the heart
• Cardiac catheterization — a thin tube inserted into a blood vessel to see detailed images of the heart
• MRI of the heart — a detailed scan used in some cases

What to expect at your appointment

If your baby is diagnosed with pulmonary atresia, the care team will explain the condition and the treatment plan. They will talk with you about what to expect, including hospital stays and follow-up appointments. You will not have to face this alone — a whole team will support you and your child.

Treatment

Treatment for pulmonary atresia almost always starts soon after birth. The goal is to create a route for blood to reach the lungs so the body receives enough oxygen. The exact approach depends on the baby's anatomy and overall health.

Self-care at home

• Keep all appointments with the heart team.
• Give any prescribed medicines exactly as directed by your child's doctor.
• Watch for signs of low oxygen, such as bluish lips or skin, and report them promptly.
• Ask questions whenever you are unsure about symptoms or care.

Medical treatments

Medicines may be used to help the heart pump more efficiently, manage blood flow, or keep the ductus arteriosus open. The ductus arteriosus is a normal blood vessel in the fetus that usually closes after birth; keeping it open temporarily can help a baby get oxygen until surgery is possible. Your child's heart team will decide which medicines, if any, are needed. Treatment plans are always tailored to the individual child.

When is surgery considered?

Most babies need surgery in the first weeks or months of life. The type of surgery depends on the details of the heart defect. Some children need more than one operation as they grow. The surgeon will create a pathway between the heart and the lungs, and sometimes a valve is placed or repaired.

Living with this condition

Most children with treated pulmonary atresia can play, go to school, and take part in family life. However, regular check-ups with a heart specialist are essential. Your child may tire more quickly than others, so it is important to let them set their own pace during activity.

Lifestyle tips

• Encourage normal play and activity, but let your child rest when needed.
• Avoid heavy lifting or extreme sports unless the heart team says it is safe.
• Keep appointments with cardiology and other specialists.
• Stay up to date with routine vaccinations and yearly flu protection.

Diet and exercise

A healthy, balanced diet is important for all children. Some babies with pulmonary atresia may need extra calories to gain weight. Older children can usually eat normally unless a doctor advises otherwise. Exercise is often encouraged, but the type and intensity should be discussed with the heart specialist.

Mental health and emotional wellbeing

Living with a congenital heart condition can feel overwhelming at times, both for the child and the family. It is normal to feel anxious or worried. Talking with a counsellor or psychologist can help children and parents cope. Reach out for support if you or your child feel stressed, sad, or afraid.

Prevention

There is no known way to prevent pulmonary atresia. It is a birth defect that happens early in pregnancy. Attending regular prenatal care and avoiding smoking, alcohol, and certain infections during pregnancy may help reduce the general risk of birth defects.

Vaccines

Vaccines are important for children with heart conditions. Follow the standard immunization schedule. Ask your cardiology team about additional protection against respiratory infections, such as flu and RSV, because these can be harder on a child with heart disease.

Screening programmes

Newborn screening with pulse oximetry can help detect low oxygen levels caused by serious heart defects like pulmonary atresia before symptoms become severe. During pregnancy, a detailed ultrasound can sometimes identify the condition in advance.

Complications

If left untreated

• Low oxygen levels that can damage the brain and other organs
• Poor growth and development
• Heart failure
• Life-threatening complications in infancy

Long-term outlook

The outlook for pulmonary atresia has improved greatly over recent decades. With early surgery, most children survive and go on to lead meaningful, active lives. They will need lifelong heart care, but many adults with this condition work, study, and have families. Good follow-up care is the key to a positive future.

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