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Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature

Received: 25 April 2021     Accepted: 10 May 2021     Published: 25 June 2021
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Abstract

Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.

Published in International Journal of Clinical and Experimental Medical Sciences (Volume 7, Issue 3)
DOI 10.11648/j.ijcems.20210703.13
Page(s) 70-73
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Absent Pulmonary Valve Syndrome, Ductal Agenesis, Patent Ductus Arteriosus, Tetralogy of Fallot, Tricuspid Atresia, Ventricular Septal Defect

References
[1] Lev M, Eckner FA. The pathologic anatomy of tetralogy of Fallot and its variations. Dis Chest 1964; 45: 251–261.
[2] Emmanouilides GC, Thanopoulos B, Siassi B, Fishbein M. ‘‘Agenesis’’ of ductus arteriosus associated with the syndrome of tetralogy of fallot and absent pulmonary valve. Am J Cardiol 1976; 37: 403–409.
[3] S. Philip, M. Varghese, K. Manohar and K. M. Cherian, Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation European Journal of Echocardiography (2011) 12, E44 doi: 10.1093/ejechocard/jer155.
[4] 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.
[5] Yeager SB, Van Der Velde ME, Waters BL, Sanders SP. Prenatal role of the ductus arteriosus in absent pulmonary valve syndrome. Echocardiography 2002; 19: 489–493.
[6] Razavi RS, Sharland GK, Simpson JM. Prenatal diagnosis by echocardiogram and outcome of absent pulmonary valve syndrome. Am J Cardiol 2003; 91: 429–432.
[7] Joshi Alpana N, Rane Hema S, Kamble Rajesh, Mestry Pravin J, Hemal Maniar, Shah Yatin. Prenatal diagnosis of absent pulmonary valve syndrome. J Ultrsound Med. 2010; 29: 823-829.
[8] Allan LD, Sharland GK, Milburn A, Lockhart SM, Groves AM, Anderson RH, Cook AC, Fagg NL. Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. J Am Coll Cardiol 1994; 23: 1452–1458.
[9] 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: 623–628.
[10] D. Wertaschnigg, M. Jaeggi, D. Chitayat, P. Shannon, G. Ryan, M. Thompson, S. J. Yoo And E. Jaeggi, Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature Ultrasound Obstet Gynecol 2013; 41: 162–167.
[11] I. Gottschalk C. Jehle, U. Herberg J. Breuer, K. Brockmeier, G. Bennink, A. Hellmund, B. Strizek, U. Gembruch, A. Geipel, C. Berg, Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome Ultrasound Obstet Gynecol 2017; 49: 637–642.
[12] Chowdhury UK, Airan B, Kumar AS, Sharma R, Bhan A, Kothari SS, Saxena A, Juneja R, Venugopal P. Management of tetralogy of Fallot with absent pulmonary valve: early and mid-term results of a uniform approach. Ind Heart J 2000; 52: 54–59.
[13] Moon-Grady AJ, Tacy TA, Brook MM, Hanley FL, Silverman NH. Value of clinical and echocardiographic features in predicting outcome in the fetus, infant, and child with tetralogy of Fallot with absent pulmonary valve complex. Am J Cardiol 2002; 89: 1280–1285.
[14] Yili Zhao, MD, Alfred Abuhamad, MD, Jonathan Fleenor, MD, et al, Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot A Meta-analysis of Perinatal Outcomes and Associated Genetic Disorders American Institute of Ultrasound in Medicine, J Ultrasound Med 2016; 35: 905–915, 0278-4297.
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    Brinda Sabu, Tazeen Khan, Vidyalekshmy Ranganayaki. (2021). Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature. International Journal of Clinical and Experimental Medical Sciences, 7(3), 70-73. https://doi.org/10.11648/j.ijcems.20210703.13

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    ACS Style

    Brinda Sabu; Tazeen Khan; Vidyalekshmy Ranganayaki. Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature. Int. J. Clin. Exp. Med. Sci. 2021, 7(3), 70-73. doi: 10.11648/j.ijcems.20210703.13

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    AMA Style

    Brinda Sabu, Tazeen Khan, Vidyalekshmy Ranganayaki. Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature. Int J Clin Exp Med Sci. 2021;7(3):70-73. doi: 10.11648/j.ijcems.20210703.13

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  • @article{10.11648/j.ijcems.20210703.13,
      author = {Brinda Sabu and Tazeen Khan and Vidyalekshmy Ranganayaki},
      title = {Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature},
      journal = {International Journal of Clinical and Experimental Medical Sciences},
      volume = {7},
      number = {3},
      pages = {70-73},
      doi = {10.11648/j.ijcems.20210703.13},
      url = {https://doi.org/10.11648/j.ijcems.20210703.13},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20210703.13},
      abstract = {Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature
    AU  - Brinda Sabu
    AU  - Tazeen Khan
    AU  - Vidyalekshmy Ranganayaki
    Y1  - 2021/06/25
    PY  - 2021
    N1  - https://doi.org/10.11648/j.ijcems.20210703.13
    DO  - 10.11648/j.ijcems.20210703.13
    T2  - International Journal of Clinical and Experimental Medical Sciences
    JF  - International Journal of Clinical and Experimental Medical Sciences
    JO  - International Journal of Clinical and Experimental Medical Sciences
    SP  - 70
    EP  - 73
    PB  - Science Publishing Group
    SN  - 2469-8032
    UR  - https://doi.org/10.11648/j.ijcems.20210703.13
    AB  - Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.
    VL  - 7
    IS  - 3
    ER  - 

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Author Information
  • Department of High risk Pregnancy and Perinatology, KIMS Health, Trivandrum, India

  • Department of High risk Pregnancy and Perinatology, KIMS Health, Trivandrum, India

  • Department of High risk Pregnancy and Perinatology, KIMS Health, Trivandrum, India

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