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
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pulmonary atresia with ventricular septal defect
MONDO:0008343
tetralogy of fallot
MONDO:0008542
pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome
MONDO:0015103
abnormal origin of the pulmonary artery
MONDO:0015239
congenital aortopulmonary window
MONDO:0016077
persistent truncus arteriosus
MONDO:0018072