Pulmonary atresia is a very rare type of congenital heart defect in which the pulmonic valve is permanently closed or completely absent from the heart. This valve is located between the right ventricle and the pulmonary artery. It is responsible for opening and closing at precise moments to allow blood to flow from the heart through the pulmonary artery and to the lungs, where it is infused with oxygen. When the pulmonic valve completely malfunctions, oxygen-poor blood cannot reach the lungs and, therefore, cannot be oxygenated.

The symptoms of pulmonary atresia typically appear shortly after birth. The most obvious sign is a baby who appears cyanotic (known as blue baby), indicating the lack of sufficient oxygen in the blood. The degree of cyanosis will vary depending on the presence of other conditions, such as a patent ductus arteriosus - another heart defect that allows oxygen-poor and oxygen-rich blood to mix. Other symptoms may include breathing difficulties, lethargy and pale skin color.

During a physical examination of a patient with suspected pulmonary atresia, a cardiologist may detect a heart murmur through a stethoscope. To help diagnose the condition, a number of tests may be ordered including a chest x-ray, electrocardiogram (EKG) and cardiac magnetic resonance imaging (MRI). In addition, cardiac catheterization may be used to evaluate this and other heart defects that may exist in the patient.

Treatment for pulmonary atresia is determined by the age and overall health of the patient, as well as the severity of the defect and tolerance for treatment. Early treatment for pulmonary atresia may include a drug that prevents the patent ductus arteriosus from closing. Surgery is typically needed to treat pulmonary atresia. The type of corrective surgery that will be performed depends greatly on what other heart defects are present.

Without treatment, a patient’s chance of long-term survival is poor because the body cannot get enough oxygen-rich blood. Fortunately, the treatments available offer patients a greater chance of a healthy and active life.