Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

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Synonyms: APV/PDA, non-Fallot type

A rare life-threatening congenital non-syndromic conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches) to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate) may be present.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Clinical Trials

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