pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome https://www.malacards.org/card/pulmonary_valve_agenesis_tetralogy_of_fallot_absence_of_ductus_arteriosus_syndrome Orphanet:101206 MEDGEN:1644090 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. APV/ADA, Fallot type MONDO:0015103 absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome UMLS:C4707896 PVA/ADA, Fallot type GARD:0019780 pulmonary valve agenesis