Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Clinical, echocardiographic features and perinatal outcomes of fetuses with EC managed at two large cardiac centers from 1995 to 2014 were retrospectively reviewed. Seventeen fetuses with EC were diagnosed at a median gestational age of 23 weeks (range 17–36). There were 6 thoracic EC and 11 thoracoabdominal. Fifteen had associated CHD: 10 conotruncal defects, 2 tricuspid atresia, 1 aortic stenosis, 1 atrial septal defect, and 1 atrioventricular septal defect. There were 2 terminations of pregnancy, 2 fetal deaths, 2 lost to follow-up, and 11 live born. Mean gestational age at birth was 36.4 weeks (range 26–39). Three patients died shortly after birth with comfort care, and 8 were actively managed. Six patients underwent postnatal cardiac intervention and are currently alive with a mean follow-up of 7.3 years (range 1.4–11.4), 2 of them with chronic dependency on ventilatory support. Two patients without CHD died after attempted chest closure. When diagnosed in utero, a high proportion of pregnancy termination or fetal demise is expected. In our cohort, conotruncal anomalies were the most common associated CHD. Though mortality in actively managed patients was not as high as previously reported, and cardiac surgical intervention may be achieved, EC is still associated with high mortality and significant long-term morbidity.
Prenatal diagnosis Ectopia cordis Pentalogy of Cantrell Fetal echocardiography
This is a preview of subscription content, log in to check access.
Dr. Escobar-Diaz is supported by a Grant from “Fundacio La Caixa,” Barcelona, Spain.
Compliance with Ethical Standards
Conflict of interest
None of the authors have conflicts of interest that pertain to this manuscript.
This article does not contain any studies with human participants or animals performed by any of the authors.
Amato JJ, Douglas WI, Desai U, Burke S (2000) Ectopia cordis. Chest Surg Clin N Am 10(2):297–316PubMedGoogle Scholar
Liang RI, Huang SE, Chang FM (1997) Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography. Ultrasound Obstet Gynecol 10(2):137–139CrossRefPubMedGoogle Scholar
Humpl T, Huggan P, Hornberger LK, McCrindle BW (1999) Presentation and outcomes of ectopia cordis. Can J Cardiol 15(12):1353–1357PubMedGoogle Scholar
Kaplan LC, Matsuoka R, Gilbert EF, Opitz JM, Kurnit DM (1985) Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet 21(1):187–202CrossRefPubMedGoogle Scholar
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):461–469CrossRefPubMedPubMedCentralGoogle Scholar
Morales JM, Patel SG, Duff JA, Villareal RL, Simpson JW (2000) Ectopia cordis and other midline defects. Ann Thorac Surg 70(1):111–114CrossRefPubMedGoogle Scholar
de Rubens Figueroa J, Sosa Cruz EF, Diaz Garcia L, Carrasco Daza D (2011) Cardiac malformations in patients with pentalogy of Cantrell and ectopia cordis. Rev Esp Cardiol 64(7):615–618CrossRefGoogle Scholar
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):865–871CrossRefPubMedGoogle Scholar
Falkensammer CB, Ayres NA, Altman CA, Ge S, Bezold LI, Eidem BW, Kovalchin JP (2008) Fetal cardiac malposition: incidence and outcome of associated cardiac and extracardiac malformations. Am J Perinatol 25(5):277–281CrossRefPubMedGoogle Scholar
Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE, Jr. (1996) Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 94 (9 Suppl):II32-37Google Scholar
O’Gorman CS, Tortoriello TA, McMahon CJ (2009) Outcome of children with pentalogy of Cantrell following cardiac surgery. Pediatr Cardiol 30(4):426–430CrossRefPubMedGoogle Scholar
Wen SW, Leader A, White RR, Leveille MC, Wilkie V, Zhou J, Walker MC (2010) A comprehensive assessment of outcomes in pregnancies conceived by in vitro fertilization/intracytoplasmic sperm injection. Eur J Obstet Gynecol Reprod Biol 150(2):160–165CrossRefPubMedGoogle Scholar
Votava-Smith JK, Glickstein JS, Simpson LL, Williams IA (2014) Comparison of method of conception in fetuses undergoing echocardiography at a tertiary referral center. Prenat Diagn 34(5):445–449CrossRefPubMedPubMedCentralGoogle Scholar
McMahon CJ, Taylor MD, Cassady CI, Olutoye OO, Bezold LI (2007) Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. Pediatr Cardiol 28(3):172–175CrossRefPubMedGoogle Scholar
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):602–614PubMedGoogle Scholar
Polat I, Gul A, Aslan H, Cebeci A, Ozseker B, Caglar B, Ceylan Y (2005) Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. J Clin Ultrasound 33(6):308–311CrossRefPubMedGoogle Scholar
Tongsong T, Wanapirak C, Sirivatanapa P, Wongtrangan S (1999) Prenatal sonographic diagnosis of ectopia cordis. J Clin Ultrasound 27(8):440–445CrossRefPubMedGoogle Scholar