hereditary disease pulmonary atresia with ventricular septal defect https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect https://www.malacards.org/card/pulmonary_atresia_with_ventricular_septal_defect GARD:0004588 pulmonary atresia with ventricular septal defect MONDO:0008343 MESH:C562833 pulmonary valve atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. Orphanet:1207 NANDO:2200252 SCTID:253591008 NANDO:1200708 OMIM:178370 UMLS:C0344976 MEDGEN:87492 NCIT:C99033 conotruncal heart malformations