Skip to main content
SpringerLink
Log in

Fetal Conotruncal Defects

TOF, DORV, Common Arterial Trunk

  • Living reference work entry
  • First Online:
Pediatric Cardiology

  • 50 Accesses

Abstract

Aberrations of the development of the conotruncal region of the embryonic heart result in “conotruncal” defects, specifically tetralogy of Fallot, double-outlet ventricle, and truncus arteriosus (Restivo A, Piacentini G, Placidi S, Saffirio C, Marino B, Anat Rec A Discov Mol Cell Evol Biol 288:936–943, 2006). D-transposition of the great vessels and interrupted aortic arch are also due to errant development of the conotruncal region and are discussed separately in other chapters. In this chapter, we will explore the fetal findings and implications of tetralogy of Fallot, double-outlet right ventricle, and truncus arteriosus.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

References

  1. Paladini D, Rustico M, Todros T, Palmieri S, Gaglioti P, Benettoni A, Russo MG, Chiappa E, D’Ottavio G. Conotruncal anomalies in prenatal life. Ultrasound Obstet Gynecol. 1996;8:241–6.

    Article  CAS  PubMed  Google Scholar 

  2. Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects. Am J Hum Genet. 2020;106:26–40.

    Article  CAS  PubMed  Google Scholar 

  3. Patel A, Costello JM, Backer CL, Pasquali SK, Hill KD, Wallace AS, Jacobs JP, Jacobs ML. Prevalence of noncardiac and genetic abnormalities in neonates undergoing cardiac operations: analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2016;102:1607–14.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Silva JA, Neves AL, Flor-de-Lima F, Soares P, Guimarães H. Risk factors and outcomes of tetralogy of Fallot: from fetal to neonatal life. Pediatr Cardiol. 2020;41:155–64.

    Article  PubMed  Google Scholar 

  5. Loffredo CA. Epidemiology of cardiovascular malformations: prevalence and risk factors. Am J Med Genet. 2000;97:319–25.

    Article  CAS  PubMed  Google Scholar 

  6. Ferencz C, Rubin JD, Loffredo CA, Magee CA, editors. Epidemiology of congenital heart disease: the baltimore-washington infant study 1981–1989. Mount Kisco: Futura Publishing Company. p. 353, $75.00. – Genetic epidemiology.– 455

    Google Scholar 

  7. Van Praagh R. The first Stella Van Praagh memorial lecture: the history and anatomy of tetralogy of Fallot. Semin Thorac Cardiovasc Surg Pediatr Cardiac Surg Ann. 2009;12:19–38.

    Article  Google Scholar 

  8. Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, Cuneo BF, Huhta JC, Jonas RA, Krishnan A, Lacey S, Lee W, Michelfelder EC Sr, Rempel GR, Silverman NH, Spray TL, Strasburger JF, Tworetzky W, Rychik J. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation. 2014;129:2183–242.

    Article  PubMed  Google Scholar 

  9. Van Praagh R, Van Praagh S, Nebesar RA, Muster AJ, Sinha SN, Paul MH. Tetralogy of Fallot: underdevelopment of the pulmonary infundibulum and its sequelae. Am J Cardiol. 1970;26:25–33.

    Article  PubMed  Google Scholar 

  10. Anderson RH, Weinberg PM. The clinical anatomy of tetralogy of Fallot. Cardiol Young. 2005;15(Suppl 1):38–47.

    Article  PubMed  Google Scholar 

  11. Galindo A, Mendoza A, Arbues J, Grañeras A, Escribano D, Nieto O. Conotruncal anomalies in fetal life: accuracy of diagnosis, associated defects and outcome. Eur J Obstet Gynecol Reprod Biol. 2009;146:55–60.

    Article  CAS  PubMed  Google Scholar 

  12. Lai W, Cohen M, Geva T, Mertens L. Echocardiography in pediatric and congenital heart disease: from fetus to adult. 1st ed. Chicester: Wiley-Blackwell; 2009.

    Book  Google Scholar 

  13. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32:492–8.

    Article  CAS  PubMed  Google Scholar 

  14. Mercer-Rosa L, Pinto N, Yang W, Tanel R, Goldmuntz E. 22q11.2 deletion syndrome is associated with perioperative outcome in tetralogy of Fallot. J Thorac Cardiovasc Surg. 2013;146:868–73.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. van der Ven JPG, van den Bosch E, Bogers A, Helbing WA. Current outcomes and treatment of tetralogy of Fallot. F1000Research. 2019:8.

    Google Scholar 

  16. Quartermain MD, Glatz AC, Goldberg DJ, Cohen MS, Elias MD, Tian Z, Rychik J. Pulmonary outflow tract obstruction in fetuses with complex congenital heart disease: predicting the need for neonatal intervention. Ultrasound Obstet Gynecol. 2013;41:47–53.

    Article  CAS  PubMed  Google Scholar 

  17. Friedman K, Balasubramanian S, Tworetzky W. Midgestation fetal pulmonary annulus size is predictive of outcome in tetralogy of Fallot. Congenit Heart Dis. 2014;9:187–93.

    Article  PubMed  Google Scholar 

  18. Escribano D, Herraiz I, Granados M, Arbues J, Mendoza A, Galindo A. Tetralogy of Fallot: prediction of outcome in the mid-second trimester of pregnancy. Prenat Diagn. 2011;31:1126–33.

    CAS  PubMed  Google Scholar 

  19. Collett RW, Edwards JE. Persistent truncus arteriosus; a classification according to anatomic types. Surg Clin North Am. 1949;29:1245–70.

    Article  CAS  PubMed  Google Scholar 

  20. Van Praagh R, Van Praagh S. The anatomy of common aorticopulmonary trunk (truncus arteriosus communis) and its embryologic implications. A study of 57 necropsy cases. Am J Cardiol. 1965;16:406–25.

    Article  PubMed  Google Scholar 

  21. Calder L, Van Praagh R, Van Praagh S, Sears WP, Corwin R, Levy A, Keith JD, Paul MH. Truncus arteriosus communis. Clinical, angiocardiographic, and pathologic findings in 100 patients. Am Heart J. 1976;92:23–38.

    Article  CAS  PubMed  Google Scholar 

  22. de Araujo LM, Schmidt KG, Silverman NH, Finkbeiner WE. Prenatal detection of truncus arteriosus by ultrasound. Pediatr Cardiol. 1987;8:261–3.

    Article  PubMed  Google Scholar 

  23. Allan LD, Crawford DC, Chita SK, Tynan MJ. Prenatal screening for congenital heart disease. Br Med J (Clin Res Ed). 1986;292:1717–9.

    Article  CAS  PubMed  Google Scholar 

  24. Volpe P, Paladini D, Marasini M, Buonadonna AL, Russo MG, Caruso G, Marzullo A, Vassallo M, Martinelli P, Gentile M. Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases. Heart. 2003;89:1437–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Smith RS, Comstock CH, Kirk JS, Lee W, Riggs T, Weinhouse E. Double-outlet right ventricle: an antenatal diagnostic dilemma. Ultrasound Obstet Gynecol. 1999;14:315–9.

    Article  PubMed  Google Scholar 

  26. Kim N, Friedberg MK, Silverman NH. Diagnosis and prognosis of fetuses with double outlet right ventricle. Prenat Diagn. 2006;26:740–5.

    Article  PubMed  Google Scholar 

  27. Gedikbasi A, Oztarhan K, Gul A, Sargin A, Ceylan Y. Diagnosis and prognosis in double-outlet right ventricle. Am J Perinatol. 2008;25:427–34.

    Article  PubMed  Google Scholar 

  28. Brick DH, Allan LD. Outcome of prenatally diagnosed congenital heart disease: an update. Pediatr Cardiol. 2002;23:449–53.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Jarrett Linder & Joyce Johnson

Authors
  1. Jarrett Linder
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Joyce Johnson
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Joyce Johnson .

Editor information

Editors and Affiliations

  1. Lurie Children's Hospital, Northwestern Memorial Hospital, Chicago, IL, USA

    Ra-id Abdulla

  2. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Stuart Berger

  3. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Carl Backer

  4. King's College, University College London, London, UK

    Robert Anderson

  5. Weill Cornell Medical College, Cornell University, New York, USA

    Ralf Holzer

  6. University of Amsterdam, Amsterdam, Noord-Holland, The Netherlands

    Nico Blom

  7. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, IL, USA

    Joshua Robinson

1 Electronic Supplementary Material

Video 1

Four-chamber to three-vessel trachea view showing 2 good size ventricles, normal AV valves, a dilated coronary sinus consistent with a persistent left superior vena cava, an overriding aorta, mildly hypoplastic pulmonary valve and main pulmonary artery, confluent branch pulmonary arteries, and a left aortic arch (AVI 73857 kb)

Video 2

This color Doppler assessment of the thoracic descending aorta shows 3 vessels coursing from the aorta into the lung fields, consistent with major aorticopulmonary collateral vessels (AVI 28244 kb)

Video 3

Fetal demonstration of DORV with subaortic VSD. Apical four-chamber view with anterior and superior angulation sweep. The RV is located superior in this clip, closest to the chest wall. The LV is the inferior chamber visualized in this clip with the apex abutting the chest wall. As the clip plays, notice that both the AV and the PV arise from the RV. The AV annulus is > > compared to the PV annulus. The subpulmonary region is elongated and narrowed related to subpulmonary conus (AVI 31868 kb)

Video 4

Fetal demonstration of DORV with subpulmonary VSD. Apical four-chamber view with anterior and superior angulation sweep. The RV is located superiorly in this clip, closest to the chest wall. The LV is the inferior chamber visualized in this clip with the apex abutting the chest wall. As the clip plays, notice that both the AV and the PV arise from the RV. The PV annulus is > > compared to the AV annulus. The subaortic region is elongated and narrowed related to subaortic conus (AVI 91065 kb)

Rights and permissions

Reprints and permissions

Copyright information

© 2023 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Linder, J., Johnson, J. (2023). Fetal Conotruncal Defects. In: Abdulla, Ri., et al. Pediatric Cardiology. Springer, Cham. https://doi.org/10.1007/978-3-030-42937-9_23-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-42937-9_23-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-42937-9

  • Online ISBN: 978-3-030-42937-9

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation