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  • Title: Prenatal diagnosis of absent pulmonary valve syndrome: report of 2 cases, most common and most rare presentations.
    Author: Joshi AN, Rane HS, Kamble RC, Mestry PJ, Maniar H, Shah Y.
    Journal: J Ultrasound Med; 2010 May; 29(5):823-9. PubMed ID: 20427795.
    Abstract:
    OBJECTIVE: Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly. Two variants of this anomaly are known. The postnatal outcome is generally poor. We report 2 patients who were referred to us for fetal echocardiography after abnormal findings on detailed sonography. We discuss the fetal echocardiographic features of this rare cardiac anomaly. METHODS: We analyzed the fetal echocardiographic findings of APVS in the 2 patients. The study was performed on an ultrasound machine using a convex transducer and fetal echocardiographic presets. The axis, size, and situs of the heart were evaluated. Color and spectral Doppler evaluations of both inflow and outflow tracts were done, and M-mode measurements of the cardiac chambers and great arteries were obtained. RESULTS: Both patients had APVS. One fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and ductal agenesis. There was typical to-and-fro flow noted on color and spectral Doppler imaging. The other fetus showed rare findings of APVS, with an intact ventricular septum (IVS) and a patent ductus arteriosus associated with functional tricuspid atresia. CONCLUSIONS: Antenatal diagnosis of the common variant (associated with tetralogy of Fallot) of APVS is easy because of its typical features of a dilated main pulmonary and branch arteries and color Doppler detection of severe stenosis and insufficiency of the functionally absent pulmonary valve. However, the second variant of APVS can have various findings, which can make a specific diagnosis difficult.
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