Pulmonary atresia with ventricular septal defects (PA-VSD) is a heart condition present at birth (congenital). Normally the heart is separated by walls (septum) into four chambers. Valves control the blood flow in the heart, allowing the blood to flow between chambers and the blood vessels bringing blood into or taking blood out of the heart. In PA, the pulmonary valve does not form properly. Blood low in oxygen is supposed to pass through the pulmonary valve, into the pulmonary artery, and to the lungs to get oxygen. If this valve does not work properly, the blood does not get enough oxygen. PA can cause the right ventricle (lower heart chamber) and another large artery, the aorta, to be formed abnormally. A VSD is a hole in the wall between the two lower chambers of the heart (ventricles). This hole allows blood low in oxygen and rich in oxygen to mix. The combination of these defects makes the heart work very hard to get oxygen to the rest of the body.
The symptoms of PA-VSD vary greatly depending on the severity of each defect. Symptoms usually begin hours after birth but may take as long as 4-6 weeks to appear. Symptoms include bluish skin (cyanosis), shortness of breath, cold skin, and feeding problems. Some risk factors during pregnancy include a rubella infection, diabetes, taking certain medications, or drinking alcohol. The cause of the heart defect is not known, but may run in families. It is also associated with DiGeorge syndrome.
Diagnosis is made using blood oxygen levels, X-rays, ultrasounds, electrocardiogram, and cardiac catheterization. Treatment is case dependent but usually requires a combination of medications and surgery. Lifelong monitoring by a heart specialist is usually required. Research is ongoing, so talk to your baby’s heart specialist about the most current treatment options. Support organizations and genetic counselors are also good sources of information and can connect you with others impacted by this conditi