Overview

Pulmonary atresia (uh-TREE-zhuh) with ventricular septal defect also is called PA-VSD. It is a heart condition a baby is born with. That means it's a congenital heart defect.

In pulmonary atresia, the valve between the heart and lungs isn't fully formed. This valve is called the pulmonary valve. Because it stays closed, blood can't flow from the right lower heart chamber, called the right ventricle, to the lungs. In PA-VSD, there also is a hole between the two pumping chambers of the heart.

Pulmonary atresia with ventricular septal defect is life-threatening. A baby with pulmonary atresia eventually doesn't get enough oxygen. Treatment includes one or more procedures or surgeries to fix the heart.

Symptoms

Symptoms of pulmonary atresia with ventricular septal defect (PA-VSD) may appear soon after a baby's birth. Symptoms can include:

  • Blue or gray skin. This change may be harder or easier to see depending on skin color.
  • Fast breathing or shortness of breath.
  • Tiredness.
  • Not feeding well.

When to see a doctor

Pulmonary atresia with ventricular septal defect (PA-VSD) typically is found during pregnancy or soon after birth. If your baby has symptoms of this condition after birth, call a healthcare professional right away.

Causes

The cause of pulmonary atresia with ventricular septal defect (PA-VSD) is not clear. Most congenital heart conditions, including pulmonary atresia, happen during the first six weeks of pregnancy. The major blood vessels that run to and from the heart begin to grow at this time.

In PA-VSD, the pulmonary valve isn't fully formed. There also is a hole in the heart called a ventricular septal defect. The hole lets blood flow into and out of the right lower heart chamber. Some blood also may flow through a natural opening called the ductus arteriosus. The ductus arteriosus usually closes soon after birth. But medicines can keep it open.

In babies with pulmonary atresia, the lung arteries, called the pulmonary arteries, can be very small or missing. If the blood vessels are missing, other vessels form on the body's main artery, called the aorta. These new vessels help send blood to the lungs. They are called major aortopulmonary collateral arteries (MAPCAs).

Risk factors

It's not clear what raises the risk of pulmonary atresia with ventricular septal defect (PA-VSD). Possible risk factors for congenital heart conditions in general may include:

  • Smoking. If you smoke, quit. Smoking during pregnancy or being around cigarette smoke raises the risk of some congenital heart conditions.
  • Alcohol use. Drinking alcohol during pregnancy may raise the risk of heart conditions in the baby.
  • Some medicines. Some medicines taken during pregnancy may raise the risk of congenital heart conditions. These include lithium (Lithobid) for bipolar disorder and isotretinoin (Claravis, Myorisan, others) for acne. Talk with your healthcare team about the medicines you take.
  • Genetics. Changes in some genes may affect how a baby's heart forms. For example, people with Down syndrome are often born with heart conditions.
  • Diabetes. Having type 1 or type 2 diabetes during pregnancy may change how a baby's heart forms. Diabetes that develops during pregnancy is called gestational diabetes. It typically doesn't raise a baby's risk of congenital heart conditions.
  • Rubella, also called German measles. Having rubella during pregnancy can change how a baby's heart forms. A blood test taken before pregnancy can show if you're immune to rubella. If you're not, a vaccine is available.
By Mayo Clinic Staff