pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome
Findings
No curated finding names pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015103), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome
- Also called
- absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndromeAPV/ADA, Fallot typePVA/ADA, Fallot type