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Ectopia cordis

MedGen UID:
41703
Concept ID:
C0013580
Congenital Abnormality
Synonyms: Cordis, Ectopia; Ectopia Cordis
SNOMED CT: Extrathoracic heart (78250005); Ectopia cordis (78250005); Ectopic heart (78250005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0001683
Monarch Initiative: MONDO:0018664
Orphanet: ORPHA448270

Definition

Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. [from HPO]

Conditions with this feature

Amniotic band syndrome
MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Pentalogy of Cantrell
MedGen UID:
107540
Concept ID:
C0559483
Disease or Syndrome
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.

Professional guidelines

PubMed

Araujo Júnior E, Coutinho LG, Bravo-Valenzuela NJ, Aquino P, Rocha LAD, Rizzo G, Tonni G, Respondek-Liberska M, Slodki M, Wolter A, Axt-Fliedner R
J Matern Fetal Neonatal Med 2023 Dec;36(1):2203791. doi: 10.1080/14767058.2023.2203791. PMID: 37080921
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
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

Recent clinical studies

Etiology

Araujo Júnior E, Coutinho LG, Bravo-Valenzuela NJ, Aquino P, Rocha LAD, Rizzo G, Tonni G, Respondek-Liberska M, Slodki M, Wolter A, Axt-Fliedner R
J Matern Fetal Neonatal Med 2023 Dec;36(1):2203791. doi: 10.1080/14767058.2023.2203791. PMID: 37080921
Başar EZ, Dogan Y, Kayabey Ö, Babaoğlu K
Congenit Anom (Kyoto) 2023 May;63(3):66-73. Epub 2023 Jan 31 doi: 10.1111/cga.12508. PMID: 36680738
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
Smith BJ, Flyer JN, Edwards EM, Soll RF, Horbar JD, Yeager SB
J Pediatr 2020 Jan;216:67-72. Epub 2019 Oct 24 doi: 10.1016/j.jpeds.2019.09.014. PMID: 31668886
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

Diagnosis

Araujo Júnior E, Coutinho LG, Bravo-Valenzuela NJ, Aquino P, Rocha LAD, Rizzo G, Tonni G, Respondek-Liberska M, Slodki M, Wolter A, Axt-Fliedner R
J Matern Fetal Neonatal Med 2023 Dec;36(1):2203791. doi: 10.1080/14767058.2023.2203791. PMID: 37080921
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
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
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
Amato JJ, Douglas WI, Desai U, Burke S
Chest Surg Clin N Am 2000 May;10(2):297-316, vii. PMID: 10803335

Therapy

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
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
Sharma VK, Kiran U, Sharma J, Kapoor PM, Saxena N
J Cardiothorac Vasc Anesth 2001 Oct;15(5):618-23. doi: 10.1053/jcan.2001.26543. PMID: 11688005
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

Araujo Júnior E, Coutinho LG, Bravo-Valenzuela NJ, Aquino P, Rocha LAD, Rizzo G, Tonni G, Respondek-Liberska M, Slodki M, Wolter A, Axt-Fliedner R
J Matern Fetal Neonatal Med 2023 Dec;36(1):2203791. doi: 10.1080/14767058.2023.2203791. PMID: 37080921
Smith BJ, Flyer JN, Edwards EM, Soll RF, Horbar JD, Yeager SB
J Pediatr 2020 Jan;216:67-72. Epub 2019 Oct 24 doi: 10.1016/j.jpeds.2019.09.014. PMID: 31668886
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
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
Amato JJ, Douglas WI, Desai U, Burke S
Chest Surg Clin N Am 2000 May;10(2):297-316, vii. PMID: 10803335

Clinical prediction guides

Stoll C, Alembik Y, Dott B, Roth MP
Genet Couns 2015;26(3):281-98. PMID: 26625659
Zhang X, Xing Q, Sun J, Hou X, Kuang M, Zhang G
J Pediatr Surg 2014 Aug;49(8):1335-40. doi: 10.1016/j.jpedsurg.2014.06.003. PMID: 25092102
Donofrio MT, Levy RJ, Schuette JJ, Skurow-Todd K, Sten MB, Stallings C, Pike JI, Krishnan A, Ratnayaka K, Sinha P, duPlessis AJ, Downing DS, Fries MI, Berger JT
Am J Cardiol 2013 Mar 1;111(5):737-47. Epub 2013 Jan 2 doi: 10.1016/j.amjcard.2012.11.029. PMID: 23291087
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
Gibbin C, Touch S, Broth RE, Berghella V
Ultrasound Obstet Gynecol 2003 Apr;21(4):334-7. doi: 10.1002/uog.93. PMID: 12704739

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