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CASE REPORT
Prenatal diagnosis of absent pulmonary valve confirmed by autopsy
  1. G Vivek1,
  2. Ranjan K Shetty1,
  3. Shalini S Nayak2,
  4. K M Girisha2,
  5. Kushal Naha3
  1. 1Department of Cardiology, Kasturba Medical College, Manipal, Karnataka, India
  2. 2Department of Genetics, Kasturba Medical College, Manipal, Karnataka, India
  3. 3Department of Medicine, Kasturba Medical College, Manipal, Karnataka, India
  1. Correspondence to Dr G Vivek, vivekgraman{at}gmail.com

Summary

Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly. This syndrome is comprised of subtotal or total absence of pulmonary valve leaflets, stenosis of the pulmonary artery orifice, aneurysmal dilation of the main pulmonary artery and ventricular septal defect. We report a case of APVS with neural tube defect detected prenatally at 22 weeks of gestation by echocardiography, and subsequently confirmed by autopsy of the still born fetus. The common presentations, means of diagnosis and variants of APVS are discussed in brief.

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