Pulmonary atresia (uh-TREE-zhuh) is a heart defect present at birth (congenital) that's normally diagnosed within the first few hours or days of life. In pulmonary atresia, the valve that lets blood out of the heart to go to your baby's lungs (pulmonary valve) doesn't form correctly.
Instead of opening and closing to allow blood to travel from the heart to the lungs, a solid sheet of tissue forms. So blood can't travel by its normal route to pick up oxygen from the lungs. Instead, some blood travels to the lungs through other natural passages within the heart and its arteries.
These passages are necessary when your baby is developing in the womb and they normally close soon after birth. Babies with pulmonary atresia typically have a bluish cast to their skin because they aren't getting enough oxygen.
Pulmonary atresia is a life-threatening situation. Procedures to correct your baby's heart condition and medications to help your baby's heart work more effectively are the first steps to treat pulmonary atresia.
If your baby is born with pulmonary atresia, symptoms will be noticeable soon after birth. Pulmonary atresia symptoms may show up within hours to several days. Your baby's signs and symptoms may include:
- Blue- or gray-toned skin (cyanosis)
- Fast breathing or shortness of breath
- Easily tiring or being fatigued
- Feeding problems, such as tiring or sweating while eating
- Pale, clammy skin that may feel cool to the touch
When to see a doctor
Your baby will most likely be diagnosed with pulmonary atresia within the first few hours to the first few days of life. However, if your baby has any symptoms of pulmonary atresia after you've returned home, seek emergency medical attention.
There is no known cause of pulmonary atresia. It's thought that the problems that cause pulmonary atresia begin early in the pregnancy. To understand the problems pulmonary atresia causes, it's helpful to know how the heart works.
How the heart works
The heart is divided into four hollow chambers, two on the right and two on the left. In performing its basic job — pumping blood throughout the body — the heart uses its left and right sides for different tasks.
The right side of the heart moves blood to the lungs through vessels called pulmonary arteries. In the lungs, blood picks up oxygen then returns to the heart's left side through the pulmonary veins. The left side of the heart then pumps the blood through the aorta and out to the rest of the body to supply your baby's body with oxygen.
Blood moves through your baby's heart in one direction through valves that open and close as the heart beats. The valve that allows blood out of your baby's heart and into the lungs to pick up oxygen is called the pulmonary valve.
In pulmonary atresia, the pulmonary valve doesn't develop properly, preventing it from opening. Blood can't flow from the right ventricle to the lungs.
Before birth, the improperly formed valve isn't life-threatening, because the placenta provides oxygen for your baby instead of the lungs. Blood entering the right side of your baby's heart passes through a hole (foramen ovale) between the top chambers of your baby's heart, so the oxygen-rich blood can be pumped out to the rest of your baby's body through the aorta.
After birth, your baby's lungs must provide oxygen for his or her body. In pulmonary atresia, without a working pulmonary valve, blood must find another route to reach your baby's lungs.
The foramen ovale usually shuts soon after birth, but may stay open in pulmonary atresia. Newborn babies also have a temporary connection (ductus arteriosus) between the aorta and the pulmonary artery.
This passage allows some of the oxygen-poor blood to travel to the lungs where it can pick up oxygen to supply your baby's body. The ductus arteriosus normally closes within a few hours or days after birth, but can be kept open with medications.
In some cases, there may be a second hole in the tissue that separates the main pumping chambers of your baby's heart, called a ventricular septal defect (VSD).
The VSD allows a pathway for blood to pass through the right ventricle into the left ventricle. Children with pulmonary atresia and a VSD often have additional abnormalities of the lungs and the arteries that bring blood to the lungs. If there's no VSD, the right ventricle receives little blood flow before birth and often doesn't develop fully. This is a condition called pulmonary atresia with intact ventricular septum (PA/IVS).
In most cases, the exact cause of a congenital heart defect, such as pulmonary atresia, is unknown. However, several factors may increase the risk of a baby being born with a congenital heart defect, including:
- A mother who had German measles (rubella) or another viral illness during early pregnancy
- A parent who has a congenital heart defect
- Drinking alcohol during pregnancy
- Smoking before or during pregnancy
- A mother who has poorly controlled diabetes
- A mother who has lupus, an autoimmune disorder
- Use of some types of medications during pregnancy, such as the acne drug isotretinoin (Claravis, Amnesteem, others), some anti-seizure medications and some bipolar disorder medications
- The presence of Down syndrome, a genetic condition that results from an extra 21st chromosome
Without treatment, pulmonary atresia is nearly always fatal. Even after surgical repairs, you'll need to carefully monitor your child's health for any changes that could signal a problem.
People with structural heart problems, such as pulmonary atresia, are at a higher risk of infectious endocarditis than the general population. Infectious endocarditis is an inflammation of the valves and inner lining of the heart caused by a bacterial infection.
Because the exact cause of pulmonary atresia is unknown, it may not be possible to prevent it. However, there are some things you can do that might reduce your child's overall risk of congenital heart defects, such as:
- Get a German measles (Rubella) vaccine. If you develop German measles during pregnancy, it may affect your baby's heart development. Being vaccinated before you try to conceive likely eliminates this risk.
- Control chronic medical conditions. If you have diabetes, keeping your blood sugar in check can reduce the risk of heart defects. If you have other chronic conditions, such as epilepsy, that require the use of medications, discuss the risks and benefits of these drugs with your doctor.
- Don't smoke or drink. Smoking cigarettes and drinking alcohol during pregnancy may increase the risk of heart defects in your baby.