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Absent Pulmonary Valve Syndrome with Tetralogy of Fallot and Patent Ductus Arteriosus at 14 Weeks of Gestation and Follow-up 2 weeks later: Case Report and Review of Literature
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  • Yan Song,
  • Yu-fen Zou,
  • Yan-hui Ru,
  • Jing Qiu,
  • Hong Yin
Yan Song

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Yu-fen Zou
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Yan-hui Ru
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Abstract

Classical absent pulmonary valve syndrome (APVS) with tetralogy of Fallot (TOF) is a rare congenital cardiac anomaly commonly associated with absent of patent ductus arteriosus (PDA), which is mostly diagnosed after 20 weeks of gestation by fetal echocardiography. This case of APVS with TOF was suspected at 13 weeks of gestation and diagnosed at 14 weeks of gestation with an obvious PDA. The pulmonary arterial trunk and the branches did not dilated obviously. 15 days later, the PDA narrowed down with the discovery of pulmonary artery ectasia at the same time. This progress indicated that the absent of PDA is not necessary for the survival of APVS with TOF in utero, in contrast, the absent or restriction of PDA may be nothing less than adaptation to the disease. Fetal autopsy confirmed the accuracy of fetal echocardiography. Chromosome microarray analysis (CMA) showed 20p12 deletion in this fetus, which is rare among TOF cases.
21 Jun 2020Submitted to Echocardiography
28 Jun 2020Submission Checks Completed
28 Jun 2020Assigned to Editor
30 Jun 2020Reviewer(s) Assigned
25 Aug 2020Review(s) Completed, Editorial Evaluation Pending
25 Aug 2020Editorial Decision: Revise Minor
22 Sep 20201st Revision Received
30 Sep 2020Assigned to Editor
30 Sep 2020Submission Checks Completed
30 Sep 2020Reviewer(s) Assigned
08 Oct 2020Review(s) Completed, Editorial Evaluation Pending
08 Oct 2020Editorial Decision: Revise Minor
03 Nov 20202nd Revision Received
04 Nov 2020Assigned to Editor
04 Nov 2020Submission Checks Completed
04 Nov 2020Review(s) Completed, Editorial Evaluation Pending
06 Nov 2020Editorial Decision: Accept
Mar 2021Published in Echocardiography volume 38 issue 3 on pages 484-487. 10.1111/echo.14936