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Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report

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Abstract

Ectopia cordis (EC) is a rare malformation that occurs as an isolated lesion or as part of the pentalogy of Cantrell which is characterized by midline closure defects. This was first described by Haller et al. in 1706. EC is seen with a frequency of 5.5–7.9 per 1 million births. It has five types that are: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal. Its differentiation from the pentalogy of Cantrell, first described by Cantrell in 1958, must be done well. Thoracic type has the worst prognosis and due to this poor prognosis in the postnatal period, termination may be offered to these patients as an option. In this paper, a case of an isolated thoracic-type complete EC detected in the prenatal ultrasonography of a pregnant woman referred to our clinic at the 18 weeks and 3 days of gestation is presented.

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References

  1. Shad J, Budhwani K, Biswas R (2012) Thoracic ectopia cordis. BMJ case reports. bcr1120115241

  2. Türkyilmaz G, Avcı S, Sıvrıkoz T et al (2019) Prenatal diagnosis and management of ectopia cordis: varied presentation spectrum. Fetal Pediatr Pathol 38(2):127–137

    Article  Google Scholar 

  3. Cantrell JR, Haller JA, Ravitch MM (1958) A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 107(5):602–614

    CAS  PubMed  Google Scholar 

  4. Gavrilov S, Lacy E (2013) Genetic dissection of ventral folding morphogenesis in mouse: embryonic visceral endoderm-supplied BMP2 positions head and heart. Curr Opin Genet Dev 23(4):461–469

    Article  CAS  Google Scholar 

  5. Van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LE, Offermans JP, Mulder AT (2008) Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 167(1):29–35

    Article  Google Scholar 

  6. Engum SA (2008) Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Semin Pediatr Surg 17(3):154–160

    Article  Google Scholar 

  7. Lampert JA, Harmaty M, Thompson EC, Sett S, Koch RM (2010) Chest wall reconstruction in thoracoabdominal ectopia cordis: using the pedicled osteomuscular latissimus dorsi composite flap. Ann Plast Surg 65(5):485–489

    Article  CAS  Google Scholar 

  8. Gabriel A, Donnelly J, Kuc A et al (2014) Ectopia cordis: a rare congenital anomaly. Clin Anat 27(8):1193–1199

    Article  Google Scholar 

  9. Atallah H, BouSaba C, Daou L, Germanos A, Kesrouani A (2018) Prenatal diagnosis of ectopia cordis in a twin fetus. Arch Gynecol Obstet 298(4):841–842

    Article  Google Scholar 

  10. Sepulveda W, Wong AE, Simonetti L, Gomez E, Dezerega V, Gutierrez J (2013) Ectopia cordis in a first-trimester sonographic screening program for aneuploidy. J Ultrasound Med 32(5):865–871

    Article  Google Scholar 

  11. Hannoun A, Usta IM, Sawaya F, Nassar AH (2011) First trimester sonographic diagnosis of ectopia cordis: a case report and review of the literature. J Matern Neonatal Med 24(6):867–869

    Article  Google Scholar 

  12. Peixoto-Filho FM, DoCima LC, Nakamura-Pereira M (2009) Prenatal diagnosis of pentalogy of Cantrell in the first trimester: is 3-dimensional sonography needed? J Clin Ultrasound 37:112–114

    Article  Google Scholar 

  13. Rea G, Sperandeo M, Di Serafino M, Vallone G, Tomà P (2019) Neonatal and pediatric thoracic ultrasonography. J Ultrasound 22(2):121–130

    Article  Google Scholar 

  14. Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31:7–15

    Article  Google Scholar 

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Funding

The authors declared that this study received no financial support.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Cukurova University, Adana, Turkey

    Bekir Kahveci & Süleyman Cansun Demir

  2. Department of Obstetrics and Gynecology, Inonu University, Malatya, Turkey

    Rauf Melekoglu

  3. Department of Obstetrics and Gynecology, Memorial Hospital, Diyarbakir, Turkey

    Ugur Deger

Authors
  1. Bekir Kahveci
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  2. Rauf Melekoglu
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  3. Ugur Deger
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  4. Süleyman Cansun Demir
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Contributions

Conceptualization: Bekir Kahveci; methodology: Bekir Kahveci, Rauf Melekoglu; formal analysis and investigation: Süleyman Cansun Demir; writing, original draft preparation: Bekir Kahveci; writing, review and editing: Bekir Kahveci, Rauf Melekoglu; resources: Bekir Kahveci, Ugur Deger; supervision: Süleyman Cansun Demir.

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Correspondence to Bekir Kahveci.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from the patient for publication of this case report and accompanying images.

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Kahveci, B., Melekoglu, R., Deger, U. et al. Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report. J Ultrasound 25, 305–308 (2022). https://doi.org/10.1007/s40477-020-00496-1

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  • DOI: https://doi.org/10.1007/s40477-020-00496-1

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