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Abdominal ectopia cordis

MedGen UID:
868876
•Concept ID:
C4023287
•
Congenital Abnormality
HPO: HP:0011582

Definition

Displacement of the heart outside the thoracic cavity and into the abdomen. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbdominal ectopia cordis

Professional guidelines

PubMed

Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging.
Liu K, Zhu M, Dong SZ
Prenat Diagn 2022 Dec;42(13):1636-1642. Epub 2022 Nov 4 doi: 10.1002/pd.6254. PMID: 36307940
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.
Türkyilmaz G, Avcı S, Sıvrıkoz T, Erturk E, Altunoglu U, Turkyilmazlmaz SE, Kalelioglu IH, Has R, Yuksel A
Fetal Pediatr Pathol 2019 Apr;38(2):127-137. Epub 2019 Jan 2 doi: 10.1080/15513815.2018.1556367. PMID: 30600745
The antenatal diagnosis and management of abdominal wall defects: the northern region experience.
Dillon E, Renwick M
Clin Radiol 1995 Dec;50(12):855-9. doi: 10.1016/s0009-9260(05)83107-1. PMID: 8536397

Recent clinical studies

Etiology

Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging.
Liu K, Zhu M, Dong SZ
Prenat Diagn 2022 Dec;42(13):1636-1642. Epub 2022 Nov 4 doi: 10.1002/pd.6254. PMID: 36307940
New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology.
Chuaire Noack L
Colomb Med (Cali) 2021 Jul-Sep;52(3):e4004227. Epub 2021 Sep 30 doi: 10.25100/cm.v52i3.4227. PMID: 35431359Free PMC Article
Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.
Demir M, Sertel E, Ture MZ
Eur J Obstet Gynecol Reprod Biol 2021 May;260:64-69. Epub 2021 Mar 15 doi: 10.1016/j.ejogrb.2021.03.016. PMID: 33743359
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
The embryologic origin of ventral body wall defects.
Sadler TW
Semin Pediatr Surg 2010 Aug;19(3):209-14. doi: 10.1053/j.sempedsurg.2010.03.006. PMID: 20610194

Diagnosis

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Pentalogy of Cantrell.
Williams AP, Marayati R, Beierle EA
Semin Pediatr Surg 2019 Apr;28(2):106-110. Epub 2019 Apr 9 doi: 10.1053/j.sempedsurg.2019.04.006. PMID: 31072457Free PMC Article
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.
Türkyilmaz G, Avcı S, Sıvrıkoz T, Erturk E, Altunoglu U, Turkyilmazlmaz SE, Kalelioglu IH, Has R, Yuksel A
Fetal Pediatr Pathol 2019 Apr;38(2):127-137. Epub 2019 Jan 2 doi: 10.1080/15513815.2018.1556367. PMID: 30600745
Ectopia cordis: a rare congenital anomaly.
Gabriel A, Donnelly J, Kuc A, Good D, Doros G, Matusz P, Loukas M
Clin Anat 2014 Nov;27(8):1193-9. Epub 2014 Apr 19 doi: 10.1002/ca.22402. PMID: 24753313
The cardiac malpositions.
Perloff JK
Am J Cardiol 2011 Nov 1;108(9):1352-61. Epub 2011 Aug 20 doi: 10.1016/j.amjcard.2011.06.055. PMID: 21861958

Therapy

Anti-angiogenic and teratological activities associated with exposure to total particulate matter from commercial cigarettes.
Ejaz S, Ashraf M, Nawaz M, Lim CW, Kim B
Food Chem Toxicol 2009 Feb;47(2):368-76. Epub 2008 Dec 3 doi: 10.1016/j.fct.2008.11.029. PMID: 19084571
Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis.
Polat I, Gül A, Aslan H, Cebeci A, Ozseker B, Caglar B, Ceylan Y
J Clin Ultrasound 2005 Jul-Aug;33(6):308-11. doi: 10.1002/jcu.20134. PMID: 16134161
The Cantrell-sequence: a result of maternal exposure to aminopropionitriles?
Dembinski J, Heyl W, Steidel K, Hermanns B, Hörnchen H, Schröder W
Am J Perinatol 1997 Oct;14(9):567-71. doi: 10.1055/s-2007-994336. PMID: 9394169

Prognosis

Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.
Demir M, Sertel E, Ture MZ
Eur J Obstet Gynecol Reprod Biol 2021 May;260:64-69. Epub 2021 Mar 15 doi: 10.1016/j.ejogrb.2021.03.016. PMID: 33743359
Thoraco-abdominal ectopia cordis in southwest Cameroon.
Chishugi JB, Franke TJ
Pan Afr Med J 2014;18:124. Epub 2014 Jun 8 doi: 10.11604/pamj.2014.18.124.4247. PMID: 25404984Free PMC Article
Ectopia cordis: a rare congenital anomaly.
Gabriel A, Donnelly J, Kuc A, Good D, Doros G, Matusz P, Loukas M
Clin Anat 2014 Nov;27(8):1193-9. Epub 2014 Apr 19 doi: 10.1002/ca.22402. PMID: 24753313
Ectopia cordis.
Puvabanditsin S, Di Stefano V, Garrow E, Wong R, Eng J, Balbin J
Hong Kong Med J 2013 Oct;19(5):447-50. doi: 10.12809/hkmj133737. PMID: 24088589
The embryologic origin of ventral body wall defects.
Sadler TW
Semin Pediatr Surg 2010 Aug;19(3):209-14. doi: 10.1053/j.sempedsurg.2010.03.006. PMID: 20610194

Clinical prediction guides

Omphalocele and gastroschisis and associated malformations.
Stoll C, Alembik Y, Dott B, Roth MP
Am J Med Genet A 2008 May 15;146A(10):1280-5. doi: 10.1002/ajmg.a.32297. PMID: 18386803
Prenatal ultrasonography and neonatal imaging of complete cleft sternum: a case report.
Twomey EL, Moore AM, Ein S, McAuliffe F, Seaward G, Yoo SJ
Ultrasound Obstet Gynecol 2005 Jun;25(6):599-601. doi: 10.1002/uog.1835. PMID: 15810036
Abdominal wall defects and congenital heart disease.
Gibbin C, Touch S, Broth RE, Berghella V
Ultrasound Obstet Gynecol 2003 Apr;21(4):334-7. doi: 10.1002/uog.93. PMID: 12704739
The Cantrell-sequence: a result of maternal exposure to aminopropionitriles?
Dembinski J, Heyl W, Steidel K, Hermanns B, Hörnchen H, Schröder W
Am J Perinatol 1997 Oct;14(9):567-71. doi: 10.1055/s-2007-994336. PMID: 9394169
Early sonographic diagnosis of fetal midline disruption syndromes.
Zimmer EZ, Bronshtein M
Prenat Diagn 1996 Jan;16(1):65-9. doi: 10.1002/(SICI)1097-0223(199601)16:1<65::AID-PD804>3.0.CO;2-3. PMID: 8821855

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