Hindawi Publishing Corporation

Case Reports in Pediatrics

Volume 2016, Article ID 5097059, 3 pages
http://dx.doi.org/10.1155/2016/5097059

Case Report
A Rare Case Report of Thoracic Ectopia Cordis:
An Obstetrician’s Point of View in Multidisciplinary Approach

Diana Ramasauskaite,1 Vilija Snieckuviene,1 Viktorija Zitkute,2 Ramune Vankeviciene,3

Dalia Lauzikiene,1 and Grazina Drasutiene1
1
Clinic of Obstetrics and Gynecology, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania
2
Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania
3
Clinic of Children’s Diseases, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania

Correspondence should be addressed to Diana Ramasauskaite; [email protected]

Received 4 July 2016; Accepted 5 October 2016

Academic Editor: Junji Takaya

Copyright © 2016 Diana Ramasauskaite et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.

Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or
completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very
poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one
case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities
seen in pentalogy of Cantrell except a diaphragmatic defect. Considering poor prognosis for fetus, conservative management of
prenatal care has been chosen. At the 42nd gestational week, during the active stage of labor, due to fetal distress, cesarean section
was performed at a tertiary level hospital. The condition of the infant was impairing rapidly and the newborn succumbed within
24 hours. We discuss the perinatal care concerning this rare anomaly.

1. Introduction 2. Case Report

Ectopia cordis is defined as an anomaly in which the fetal A 32-year-old woman, gravida 5 para 2, had no regular
heart partially or completely lies outside the thoracic cavity. prenatal care before 24 weeks of gestation. An anterior
It is a rare congenital abnormality with an incidence of 5.5 to thoracic defect with an extrathoracic two-chamber heart was
7.9 per 1 million live births and includes 0.1% of congenital recognized at 24 gestational weeks of uneventful pregnancy
heart diseases [1–6]. The ectopic heart is one of the five during the first ultrasonographic evaluation. There was no
characteristic abnormalities seen in patients presenting with family history of congenital anomalies, genetic abnormalities,
the rare syndrome of pentalogy of Cantrell which comprises or history related to ectopia cordis. During pregnancy, the
midline supraumbilical abdominal wall defect, deficiency of mother was smoking 15 cigarettes per day. An unfavorable
the anterior diaphragm, defect of the lower sternum, defect prognosis to the fetus was predicted and conservative man-
in diaphragmatic pericardium, and congenital heart disease agement of prenatal care had been chosen.
[7, 8]. Clinically, ectopia cordis has been classified into four The woman was admitted to the tertiary level obstetrics
types according to the cardiac location: cervical (3% of cases), and gynecology clinic during active stage of labor, at
thoracic (60% of cases), abdominal (30% of cases), and gestational age of 42 weeks. Diagnosis of congenital heart
thoracoabdominal (7% of cases) [6, 9, 10]. Here we report anomaly was heart ectopia, and septal ventricular defect was
one thoracic ectopia cordis case with anterior abdominal confirmed by ultrasound. Multiple anomalies were observed:
wall defect, supraumbilical omphalocele, heart ectopia, and wide anterior thoracic defect with extrathoracic four-
congenital intracardiac defects. chamber heart, rounded apex of the heart, high ventricular
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2 Case Reports in Pediatrics

B
RV
Ao C
LV
C
F
D

Figure 1: Ultrasound of fetus heart at 42nd week of gestation, Figure 3: The newborn 5 minutes after birth. C: the ectopic
thoracic cleft, and major blood vessels transposition. Ao: aorta, heart positioned outside the thoracic cavity; F: supraumbilical
RV: right ventricle, and LV: left ventricle. A: wide anterior thoracic omphalocele.
defect, B: ventricular septum, C: ectopic heart, and D: chest.

3. Discussion
Ectopia cordis (EC) is a rare and impressive congenital mal-
formation, which was observed thousands of years ago. The
A
RV term “ectopia cordis” has been used to describe all anomalies
RA in which the heart was not located within the thorax [1].
LV
The etiology of this pathology has not been fully explained.
Embryologically, it is caused by failure of lateral mesoderm
in the third week of intrauterine life and failure of midline
fusion of the developing chest wall caused by compression of
the thorax resulting from rupture of the chorion or yolk sac
at around 21 days of gestation [10]. However, the relationship
between abnormal karyotypes such as XXY, trisomy 18, and
trisomy 21 was observed [6, 10].
Ultrasound made as early as within the first trimester
Figure 2: Ultrasound of fetus heart at 42nd week of gestation with or by the start of the second trimester allows enough time
ventricular septal defect. RA: right atrium, RV: right ventricle, and
to define the associated abnormalities in nearly 90% of the
LV: left ventricle. A: ventricular septal defect.
reported cases [9–11]. Ectopia cordis and large omphalocele
are detected with 2D ultrasonography, which is commonly
sufficient in diagnosis [12]. However, sometimes this may be
septal defect, the major blood vessels transposition, narrow difficult particularly in minor forms of ectopia cordis. Then,
pulmonary artery, and pericardium covering only ventricles it is better to use 3D scanning to visualize fetal bones due to
(Figures 1 and 2). Despite unfavorable prognosis to the fetus, greater contrast difference compared with contiguous organs
mother had chosen intrapartum fetal heart monitoring. Due [1, 12, 13]. Fetal cardiac MRI has the potential to offer an alter-
to fetal distress at a cervical dilation of 6 cm, cesarean section native imaging option in patients to whom echocardiography
was performed. The newborn was a female of 3300 g weight is limited by maternal or fetal factors (e.g., maternal obesity,
and 44 cm height who scored 8 (1 min) and 8 (5 min) on adverse fetal position, and placental calcifications). Also it is
Apgar scale (Figure 3, Supporting Information Video 1 in highly recommended to perform the chromosomal analysis
Supplementary Material available online at http://dx.doi.org/ due to the association with aneuploidy, especially trisomy 18
10.1155/2016/5097059). At birth, the infant had hypotonia, [9, 12].
weak cry, and generalized facial cyanosis. The physical exam- Overall the prognosis of ectopia is very poor, but depends
ination revealed split sternum with complete thoracic ectopia greatly on the type and severity of EC, intracardiac and asso-
cordis, the defect followed by anterior abdominal wall defect, ciated malformations, gestational week, birth weight, mode of
supraumbilical omphalocele. Ectopic heart with partial delivery, or even by the available medical resources [14–17].
absence of the pericardium was beating outside the thoracic Cervical ectopia cordis is completely incompatible with life
cavity, at a rate of 130/min with remittent bradycardia. After [7]. Thoracic type is related to poor outcome. The majority
birth, the infant’s heart was covered with warm saline-soaked of long-term survivors with thoracic type had no associated
sterile dressing. The newborn girl was transferred to the cardiac defects. Engum has reported only one surviving
specialized cardiac surgery centre, children’s intensive care newborn from 91 cases with true thoracic ectopia cordis and
unit. She died within 24 hours. The parents declined postmor- intracardiac defects, similar to our case [17]. The other types
tem newborn’s autopsy. of ectopia cordis have better prognosis with multiple reports
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Case Reports in Pediatrics 3

of successful elective repairs into infancy and early childhood [6] Y. Çelik, O. Hallıoğlu, N. Basut, H. Demetgül, and A. E. Kibar,
[10]. Untreated, this kind of anomaly is fatal and most infants “A rare case of cardiac anomaly: prenatally diagnosed ectopia
are stillborn or die within the first few hours or days of life cordis,” Turk Pediatri Arsivi, vol. 50, no. 2, pp. 129–131, 2015.
from infection, cardiac failure, or hypoxemia [14, 17]. [7] R. Malik, M. V. Zilberman, L. Tang, S. Miller, and N. G.
Perinatal care when parents chose sustaining the preg- Pandian, “Ectopia cordis with a double outlet right ventricle,
nancy or termination is impossible because gestational age large ventricular septal defect, malposed great arteries and left
greater than 22 weeks has been rarely discussed in the liter- ventricular hypoplasia,” Echocardiography, vol. 32, no. 3, pp.
ature. To offer the best care and therapy, a multidisciplinary 589–591, 2015.
medical team consisting of a perinatologist, a neonatologist, [8] G. Harring, J. Weil, C. Thiel, R. Schmelzle, and G. C. Mueller,
a radiologist, a pediatric surgeon, a cardiologist, a pediatric “Management of Pentalogy of Cantrell with complete ectopia
cordis and Double Outlet Right Ventricle,” Congenital Anoma-
cardiac surgeon, a plastic surgeon, and palliative nurses
lies, vol. 55, no. 2, pp. 121–123, 2015.
should counsel parents preferably prenatally. Therefore, it is
[9] W. Sepulveda, A. E. Wong, L. Simonetti, E. Gomez, V. Dezerega,
necessary to diagnose the severity of pathology and estimate
and J. Gutierrez, “Ectopia cordis in a first-trimester sonographic
the prognosis to fetus as precisely as possible to inform screening program for aneuploidy,” Journal of Ultrasound in
the family with frankness. Provided with accurate medical Medicine, vol. 32, no. 5, pp. 865–871, 2013.
information about the delivery mode and possible infant care, [10] A. Gabriel, J. Donnelly, A. Kuc et al., “Ectopia cordis: a rare
the parents should decide autonomously. Decisions regarding congenital anomaly,” Clinical Anatomy, vol. 27, no. 8, pp. 1193–
fetal monitoring and mode of delivery are difficult. Parents 1199, 2014.
choosing vaginal delivery should be informed about the [11] J. Shad, K. Budhwani, and R. Biswas, “Thoracic ectopia cordis,”
possibility of fetus demise during labor due to prolonged BMJ Case Reports, vol. 2012, 2012.
cardiac compression, damage of herniated viscera, or rupture [12] M. A. Ergenoğlu, A. Ö. Yeniel, N. Peker et al., “Prenatal
of an atrial diverticula or omphalocele sac [17]. They also diagnosis of Cantrell pentalogy in first trimester screening: case
should know, that performing cesarean section does not often report and review of literature,” Journal of the Turkish German
change the outcome [2, 10]. In our case, the conservative Gynecology Association, vol. 13, no. 2, pp. 145–148, 2012.
approach was offered, but during the labor it was changed to [13] Y. Chang, M.-J. Yang, P.-H. Wang, and C.-Y. Chen, “Three-
active labor management plan because of patient request. Due dimensional HDlive image of ectopia cordis in a twin fetus
to fetal condition, cesarean section had been performed, but at 9 gestational weeks,” Taiwanese Journal of Obstetrics and
it did not have an impact on the previously determined poor Gynecology, vol. 54, no. 4, pp. 463–464, 2015.
outcome. [14] A. M. Taksande and K. Y. Vilhekar, “A case report of ectopia
In conclusion, early prenatal detection and precise diag- cordis and omphalocele,” Indian Journal of Human Genetics, vol.
nosis of ectopia cordis are essential for multidisciplinary 19, no. 4, pp. 491–493, 2013.
team to provide optimal parental counselling for fetus/infant [15] J. B. Chishugi and T. J. Franke, “Thoraco-abdominal ectopia
prognosis, aiding in developing a delivery plan and, when cordis in southwest cameroon,” Pan African Medical Journal,
possible, postnatal management strategy. vol. 18, article 124, 2014.
[16] M. Morello, E. Quaini, G. Nenov, and G. Pomé, “Extrathoracic
ectopia cordis: case report,” Journal of Cardiovascular Surgery,
Competing Interests vol. 35, no. 6, pp. 511–515, 1994.
[17] S. A. Engum, “Embryology, sternal clefts, ectopia cordis, and
The authors declare that there is no conflict of interests Cantrell’s pentalogy,” Seminars in Pediatric Surgery, vol. 17, no.
regarding the publication of this paper. 3, pp. 154–160, 2008.

References
[1] D. Chelli, K. Dimassi, S. Jallouli-Bouzguenda et al., “Prenatal
diagnosis of ectopia cordis: case report,” Tunisie Medicale, vol.
86, no. 2, pp. 171–173, 2008.
[2] M. S. Kabbani, K. Rasheed, M. S. Mallick, H. Abu-Hassan, and
S. Al-Yousef, “Thoraco-abdominal ectopia cordis: case report,”
Annals of Saudi Medicine, vol. 22, no. 5-6, pp. 366–368, 2002.
[3] X. Zhang, Q. Xing, J. Sun, X. Hou, M. Kuang, and G. Zhang,
“Surgical treatment and outcomes of pentalogy of Cantrell in
eight patients,” Journal of Pediatric Surgery, vol. 49, no. 8, pp.
1335–1340, 2014.
[4] P. Sadłecki, M. Krekora, G. Krasomski et al., “Prenatally evolv-
ing ectopia cordis with successful surgical treatment,” Fetal
Diagnosis and Therapy, vol. 30, no. 1, pp. 70–72, 2011.
[5] A. V. Apte, “Thoraco-abdominal ectopia cordis: a rare entity.
Case report and review of literature,” People’s Journal of Scientific
Research, vol. 1, 2008.