Pulmonary atresia is a heart defect present at birth (congenital) that's normally diagnosed within the first few hours or days of life. In pulmonary atresia, the valve that lets blood out of the heart to go to your baby's lungs doesn't form correctly. Instead of opening and closing to allow blood to travel from your heart to your lungs, a solid sheet of tissue forms. Blood from the right side of your baby's heart can't go back to the lungs to pick up oxygen.Pulmonary atresia may occur with or without a ventricular septal defect (VSD).
Bluish colored skin (cyanosis), Fast breathing, Fatigue, Poor eating habits (babies may get tired while nursing or sweat during feedings), Shortness of breath.The temporary measure, which has to be taken in new-borns with pulmonary atresia, is usually given an intravenous drug (injected into a vein) called prostaglandin E1 to prevent the ductus arteriosus from closing. Blood can flow from the right side of the heart to the left side and pass through the left ventricle to the lungs to pick up oxygen by keeping the ductus arteriosus open.
Statistical analysis on pulmonary atresia in Israel results as among the patients, 77 PA patients with a ventricular septal defect (PA-VSD) and five PA patients with an intact ventricular septum (PA-IVS), were genotyped using SNP-based microarrays. To explore CNVs that are potentially responsible for PA and avoid overestimating the causality of CNVs, we focused on deletions/duplications (copy number 1 or 3 at the autosomes and 0 or 1 at the X chromosome in males and females, respectively) with high confidence.