Absent pulmonary valve occurs when the pulmonary valve does not form or develop properly while the baby is in the mother's womb. When present, it often occurs as part of a heart condition called tetralogy of Fallot.
When the pulmonary valve is missing or does not work well, not enough blood can flow efficiently to the lungs to get oxygen.
There is also usually a hole between the left and right ventricles of the heart (ventricular septal defect). This defect will also lead to low-oxygen blood being pumped out to the body.
The skin will have a blue appearance (cyanosis), because the body's blood contains a low amount of oxygen.
Absent pulmonary valve also results in very enlarged (dilated) branch pulmonary arteries (the arteries that carry blood to the lungs). They can become so enlarged that they press on the tubes that bring air to the lungs (bronchi) and cause breathing problems.
Other heart defects that can occur with absent pulmonary valve include:
- Abnormal tricuspid valve
- Atrial septal defect
- Double outlet right ventricle
- Ductus arteriosis
- Endocardial cushion defect
- Marfan syndrome
- Tricuspid atresia
Heart problems that occur with absent pulmonary valve may be due to defects of the genes (chromosomes).