title: Prenatal diagnosis of absent pulmonary valve syndrome: report of 2 cases, most common and most rare presentations.
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.
authors.affiliation: Department of Radiology, Shobha Diagnostic Center, Mumbai, Maharashtra, India. alpana_joshi@yahoo.com
authors.forename: Alpana N
authors.initials: AN
authors.lastname: Joshi
authors.forename: Hema S
authors.initials: HS
authors.lastname: Rane
authors.forename: Rajesh C
authors.initials: RC
authors.lastname: Kamble
authors.forename: Pravin J
authors.initials: PJ
authors.lastname: Mestry
authors.forename: Hemal
authors.initials: H
authors.lastname: Maniar
authors.forename: Yatin
authors.initials: Y
authors.lastname: Shah
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D011664:Pulmonary Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*