conotruncal heart malformations pulmonary valve agenesis https://www.malacards.org/card/pulmonary_valve_agenesis Orphanet:982 GARD:0004597 congenital absence of the pulmonary valve PVA Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 UMLS:C0344983 MONDO:0020064 MEDGEN:576671 SCTID:6996004 NANDO:2200280 absent pulmonary valve syndrome pulmonary valves agenesis NANDO:2100095