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Absent pulmonary valve Absent pulmonary valve is a rare defect in which the pulmonary valve is either missing or poorly formed. Oxygen-poor blood flows through this valve from the heart to the lungs, where it picks up fresh oxygen. This condition is present at birth (congenital). Causes: 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. It is found in about 3% to 6% of people who have tetralogy of Fallot. When the pulmonary valve is missing or does not work well, blood does not flow efficiently to the lungs to get enough oxygen. In most cases, there is also 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 to pick up oxygen). They can become so enlarged that they press on the tubes that bring the oxygen into the lungs (bronchi). This causes 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. Absent left pulmonary artery. Heart problems that occur with absent pulmonary valve may be due to defects in certain genes.