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2014 | 4 | 3 | 18-22

Article title

First trimester diagnosis of Absent Pulmonary Valve (APV): a case report of prenatal treatment with a review of literature and data from The Polish National Registry of Fetal Cardiac Pathology


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Absent of pulmonary valve syndrome is a rare congenital heart defect, which is diagnosed prenataly in 0,8% of fetuses with congenital heart defect based on the data from National Polish Registry Of Fetal Cardiac Anomalies. We present a case of pregnat woman and fetus with that heart defect, which was detected in the 1st trimester and treated prenatally with digoxin, amnioreduction, tocolysis and steroids following by the cardiac sugery in the neonatal period. Despite an intensive therapy, the infant died on the 3rd month of age. We belive that the main reason of poor outcome was premature delivery at the 35th week of gestation. We present unique cardiac images proving the changing characterists of this type anomay since 1 st trimester









Physical description


1 - 9 - 2014
29 - 9 - 2014
30 - 12 - 2015
6 - 8 - 2014


  • Volumed Specialist Clinic in Cracow
  • Fetal Echocardiography Laboratory Ujastek Medical Centre in Krakow
  • Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz
  • Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute
  • University Hospital Munster, Division of Pediatric Heart Surgery
  • University Hospital Munster, Division of Pediatric Heart Surgery


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  • 2. Volpe P, Paladini D, Marasini M, Buonadonna AL, Russo MG, Caruso G, Marzullo A, Arciprete P, Martinelli P, Gentile M. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol. 2004;24(6):623-8
  • 3. Galindo A, Gutierrez-Larraya F, Martinez JM, Del Rio M, Graneras A, Velasco JM, Puerto B, Gratacos E. Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve. Ultrasound Obstet Gynecol. 2006;28(1):32-9.
  • 4. Hajdu J, Pete B, Harmath A, Beke A, Papp C, Szigeti Z, Papp Z. Congenitally absent pulmonary valve--analysis of ten prenatally diagnosed cases and review of the literature. Orv Hetil. 2007;148(33):1557-61.
  • 5. Huhta James C, Paul James J. Doppler in Fetal Heart Failure. Part I. Prenat Cardio. 2011;1(2):4-8.
  • 6. Respondek-Liberska M, Wilczyński J, Maroszyńska I, Sysa A, Moll J, Moll J. Effective transplacental therapy in fetal cardiomegaly to prevent lung hypoplasia-case report. Ginekol Pol 2007;78(7):565-9
  • 7. Sliwa J, Respondek-Liberska M, Maroszyńska I, Krasomski G. Ebstein’s malformation in the fetus with cardiomegaly. To treat or to observe?--a case report]. Ginekol Pol. 2010;81(2):135-9.
  • 8. Sauer U. Absence of the pulmonary valve. Orphanet Encyklopedia. December 2003.http://www.orpha.net/patho/GB/uk-AbsPulmoValve.pdf
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  • 10. Sleurs E, De Catte L, Benatar A. Prenatal diagnosis of absent pulmonary valve syndrome in association with 22q11 deletion. J Ultrasound Med 2004 23:417-422
  • 11. Litovsky S, Choy M, Park J, et al. Absent pulmonary valve with tricuspid atresia or severe tricuspid stenosis: report of three cases and review of the literature. Pediatr Dev Pathol 2000 3: 353-366.[Crossref]
  • 12. Lato K, Gembruch U, Geipel A, et al. Tricuspid atresia with absent pulmonary valve and intact ventricular septum: intrauterine course and outcome of an unusual congenital heart defect. Ultrasound Obstet Gynecol 2010 35: 243-245.
  • 13. Versacci P, Digilio MC, Sauer U, Dallapiccola B, Marino B. Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. Am J Med Genet A. 2005;138A(2):185-6. 4.
  • 14. Fouron JC, Sahn DJ, Bender R, Block R, Schneider H, Fromberger P, Hagen-Ansert S, Daily PO. Prenatal diagnosis and circulatory characteristics in tetralogy of Fallot with absent pulmonary valve. Am J Cardiol. 1989; 64(8):547-9.[Crossref]
  • 15. Becker R, Schmitz L, Guschmann M, Wegner RD, Stiemer B, Entezami M. Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature. Ultrasound Obstet Gynecol. 2001;17(3):263-7
  • 16. Berg C, Thomsen Y, Geipel A, Germer U, Gembruch U. Reversed enddiastolic flow in the umbilical artery at 10-14 weeks of gestation is associated with absent pulmonary valve syndrome. Ultrasound Obstet Gynecol. 2007; 30(3):254-8.
  • 17. Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, Yoo SJ, Jaeggi E. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol. 2013; 41(2):162-7.[WoS]
  • 18. Costello JM, Pasquali SK, Jacobs JP, He X, Hill KD, Cooper DS, Backer CL, Jacobs ML. Gestational age at birth and outcomes after neonatal cardiac surgery: an analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Circulation. 2014; 129(24):2511-7.

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