What is Pulmonary atresia

Pulmonary atresia is a rare, life-threatening congenital heart defect where the pulmonary valve fails to form properly, preventing blood from flowing from the heart to the lungs for oxygenation. Because this blockage is present at birth, it requires immediate medical intervention, often involving surgery or catheter-based procedures to restore blood flow to the lungs.

What exactly happens in the heart with pulmonary atresia?

In a healthy heart, the pulmonary valve acts as a one-way gate, allowing deoxygenated blood to travel from the right ventricle into the pulmonary artery and on to the lungs. In pulmonary atresia, this valve is completely sealed or missing. As a result, the right ventricle cannot pump blood into the lungs. To survive, the body must rely on alternative pathways, such as a patent ductus arteriosus (a temporary fetal blood vessel) or abnormal collateral arteries, to get blood to the lungs. The 31 members of the DiseaseMaps.org community living with this condition represent the diverse range of surgical journeys required to manage these complex circulation patterns.

What are the two main types of pulmonary atresia?

Medical professionals classify pulmonary atresia into two primary categories based on the structure of the heart's other chambers:

• Pulmonary atresia with intact ventricular septum (PA/IVS): The wall between the heart's lower chambers is closed. The right ventricle is often underdeveloped (hypoplastic) because it has had no outlet for blood.


• Pulmonary atresia with ventricular septal defect (PA/VSD): There is a hole between the lower chambers of the heart. This type is closely related to Tetralogy of Fallot and allows blood to exit the right ventricle through the hole, though the lungs still do not receive adequate blood flow through the natural valve path.

How common is this condition and who does it affect?

Pulmonary atresia is considered a rare congenital heart defect, occurring in approximately 7 to 10 per 100,000 live births. It affects male and female infants with roughly equal frequency. While the exact cause remains unknown in most cases, researchers believe it results from a combination of genetic factors and environmental influences during early fetal development. It is almost always diagnosed within the first few hours or days of life due to the infant appearing cyanotic (bluish skin tint) because of low oxygen levels in the blood.

How is pulmonary atresia different from other heart defects?

Unlike some other congenital heart defects that may be managed with medication initially, pulmonary atresia is a structural "bottleneck" that requires procedural or surgical correction to ensure survival. It is distinct from pulmonary stenosis, where the valve is narrowed but still allows some blood flow. In pulmonary atresia, there is zero forward flow through the valve, making it a critical form of congenital heart disease that necessitates specialized care from pediatric cardiologists and cardiothoracic surgeons.

Next steps

• Consult a pediatric cardiologist immediately to discuss surgical repair options, such as the Blalock-Taussig shunt or the Fontan procedure.


• Join the DiseaseMaps.org community to connect with other families and individuals navigating life with pulmonary atresia.


• Request a referral to a center specializing in Adult Congenital Heart Disease (ACHD) if you are an adult patient, as lifelong monitoring is essential.


• Keep a detailed binder of all cardiac imaging (echocardiograms and MRIs) to share with your multidisciplinary care team.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

References

• National Institutes of Health (NIH) Genetic and Rare Diseases (GARD) Information Center: Pulmonary atresia.


• Orphanet: Rare disease database entry for pulmonary atresia.


• American Heart Association: Congenital heart defects - Pulmonary atresia.


• Children's Heart Foundation: Understanding pulmonary atresia.