









































Pa
ge

 
1



Pa
ge

 
1

American Journal of  Medical 
Science and Innovation (AJMSI) 

Ectopia Cordis Thoraco-Abdominal Diagnosed with Antenatal Ultrasound
Tolojanahary Herizo Andrianjakamanana1, Patricia Alice Razafindrahova2*, Christian Tomboravo3, Andry 

Nampoinanirina Rasolonjatovo4, Habib Nouraly5, Hasina Dina Ranoharison6, Ahmad Ahmad7

Volume 2 Issue 1, Year 2023
https://journals.e-palli.com/home/index.php/ajmsi

Article Information ABSTRACT

Received: January 04, 2023

Accepted: Febryary 02, 2023

Published: February 08, 2023

In this article we report a case of  ectopia cordis, which is a rare congenital malformation 
characterized by an extra-thoracic position of  the heart. This is the thoracic-abdominal 
form, of  antenatal discovery on a pregnancy of  35 weeks and 03 days, during an obstetric 
ultrasound monitoring pregnancy during the third trimester of  pregnancy, made at the Uni-
versity Hospital Professor Zafisaona Gabriel, Mahajanga Madagascar. The objective of  this 
work is to report the antenatal ultrasound diagnostic elements of  this rare malformation. 
Ultrasound plays an important role in antenatal diagnosis and the search for other related 
malformations, especially in low-income countries.Keywords

Ectopia cordis, Ultrasound, 
Malformation, Madagascar

1 University Hospital Professeur Zafisaona Gabriel (CHUPZAGA), Mahajanga, Madagascar.
2 University Hospital  Mitsinjo Betanimena, Toliary, Madagascar.
3 University Hospital  Place Kabary, Antsiranana, Madagascar.
4 Hospital Ave Maria, Antsirabe, Madagascar.
5 University Hospital Mahavoky Atsimo, Mahajanga, Madagascar.
6 University Hospital Andohatampenaka, Antananarivo, Madagascar.
7 University Hospital Joseph Ravoahangy Andrianavalona (CHUJRA), Antananarivo, Madagascar
* Corresponding author’s e-mail:rpatricia_alice@yahoo.fr

INTRODUCTION
Ectopia cordis or cardiac ectopy is an extremely rare 
congenital cardiac malformation, characterized by a 
partially or completely extra-thoracic topography of  the 
heart, whose prevalence is estimated at 5.5 to 7.9 cases per 
million live births (Hornberger L K. et al. 1996). Depending 
on the topography, it can be cervical, thoracic, thoraco-
abdominal or abdominal. The thoracic-abdominal form 
is generally associated with the pentalogy of  Cantrell 
or one of  its variants which includes a bifid sternum, a 
defect of  the diaphragm, the anterior abdominal wall and 
an intracardiac malformation (Apte AV. 2008). We report 
a case of  isolated thoracic-abdominal cordis ectopia, 
diagnosed with antenatal ultrasound at 35 weeks and 3 
days. To our knowledge, this is the first case documented 
and reported in Madagascar. The objective of  this work 
is to report the antenatal ultrasound diagnostic elements 
of  this rare malformation. Ultrasound plays an important 
role in antenatal diagnosis and the search for other related 
malformations, especially in low-income countries.

METHODOLOGY
This is a 37-year-old woman from Marovoay, Mahajanga, 
in the west of  Madagascar, without any notion of  
inbreeding marriage, already having five living children, 
the first of  whom is 17 years old and the last of  3 years 
old. She’s being referred by a city medical office for an 
obstetric ultrasound. This is her sixth move, without a 
history of  spontaneous or induced miscarriage. No 
history of  birth defects was reported in siblings and family. 
The pregnancy was followed by three series of  prenatal 
consultations in health facilities in the countryside, which 
had not objectified any particular abnormalities. She had 

received two ultrasound examinassions during the first 
and second trimesters, the results of  which are normal. 
There was no medication or abnormal symptomatology 
during pregnancy. Clinically, it is in good general 
condition, without any particular functional sign. There 
is no exaggeration of  uterine height. There was also 
no abdominal pain, water loss, or genital bleeding. The 
abdominal ultrasound showed a pregnant uterus, with a 
live fetus in cerebral presentation, of  35 SA and 3 days 
depending on the measurements performed. Amniotic 
fluid is normal volume with a PHELAN index measured 
at 13 cm. There is a 65 mm long anterior thoracic 
abdominal parietal defect in median sagittal section with 
totally extra-thoracic heart chambers (Figures 1 and 2), 
with regular activity at 148 beats per minute. There is also 
a strip of  part of  the hepatic parenchyma up to the level 
of  the umbilical region next to the abdominal parietal 
defence. In Mode B ultrasound there were four visible 
heart chambers and no other malformative abnormalities 
visible at the head pole, abdomen, upper and lower 
limbs. There were also no placental and umbilical cord 
abnormalities. Doppler scanning could not be performed 
due to a lack of  suitable equipment. In total, it is a 
progressive monofetal pregnancy of  35 SA and 03 days 
of  age ultrasound with malformation type abnormality of  
closure of  the anterior chest-abdominal wall associated 
with ectopia cordis thoraco-abdominal, without any 
other associated visible malformation. Given the 
complexity of  the management of  these malformations 
and the insufficient technical plateau in the hospitals 
of  Madagascar and the lack of  social coverage for such 
management. An in utero transfer to a well-equipped 
hospital was planned by pleading aid to international 

https://journals.e-palli.com/home/index.php/ajmsi
mailto:rpatricia_alice%40yahoo.fr?subject=


Pa
ge

 
2

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(1) 1-3, 2023

humanitarian associations, but the parturiente was lost 
sight of  it.

DISCUSSION
The ectopia cordis may be complete ; in this case, the naked 
heart is moved outside the rib cage, without pericardial 
coverage. One can also have a partial displacement or one 
can see the heart beating through the skin. This anomaly 
was first described by Haller in 1706 (Kaplan L C. et al. 
1985, Chelli D. et al. 2008) and the first classifications were 
attributed to Weese in 1818 (Harrison M R. et al. 1982) 
and Todd in 1836 (Leca F. 1989). The cause is unknown; 

however, there is a small association noted with trisomy 
(Twomey E L. et al 2005, Diaz JH. 1992) and a few cases 
have been associated with other abnormalities, such as 
triploidy and X-related family heredity. The incidence is 
5.5 to 7.9 per 1 million live births (Apte AV. 2008). A 
defect is present in the maturation of  the mesodermal 
midline and a defect of  fusion of  the cephalic anterior 
folds can lead to associated abnormalities. The failure 
of  the descent of  the heart into the thorax during the 
3rd week of  gestation may leave it stuck above the upper 
closure of  the sternum, creating a cervical ectopy but 
more difficult to explain for thoracic and abdominal 
ectopies (Diaz JH. 1992). It can be classified into cervical 
(3%), cervicothoracic, thoracic (60%), thoracoabdominal 
(7%) and abdominal types (30%) (Leca F. 1989, Morrello 
M.1994). Although the thoracoabdominal types and 
minor forms of  Cantrell pentalogy offer a better 
prognosis, the cervical type is not compatible with life 
(Morrello M.1994). In our case, it is the complete thoraco-
abdominal form, without any other visible malformation 
associated with the B-Modeultrasound.
Early ultrasound diagnosis can often be done before birth 
and is usually noted early in the second trimester (Harrison 
M R. et al. 1982). With the use of  ultrasound (3D) and its 
combination with Doppler power, accurate diagnosis may 
be possible at an early stage of  gestation (Mittermayer 
C. & Bernaschek G, Lee A. 2002). Liang and colleagues 
reported one case of  CORDIS ectopia diagnosed at 10 
weeks gestation using 2D and 3D ultrasound (Liang RI 
et al. 1997). MRI becomes a pillar of  prenatal assessment 
for documenting and planning complications (Liang RI et 
al. 1997). In our case, the antenatal diagnosis is done quite 
late, at 35 weeks and 3 days gestation, with a portable 
ultrasound, equipped only with a convex probe, without 
3D option or Doppler. Our diagnosis is then limited to 
the morphological description of  the parietal defect and 
the search for other associated malformations, without 
being able to specify the existence or no intra-cardiac 
malformations.
When the diagnosis is made before birth, a caesarean 
section should be performed because vaginal delivery 
may result in prolonged cardiac compression, or rupture 
of  an atrial diverticula or omphalocele sac (Sharma VK. 
et al. 2001). If  uncorrected intracardiac abnormalities are 
found, this allows the physician and family to discuss 
the elective termination option. The complete ectopia 
cordis presents itself  as a neonatal emergency. It is 
generally considered fatal and death can occur as a result 
of  infection, heart failure or hypoxemia. The associated 
cardiac abnormalities are interauricular communication 
(100%), interventricular communication (53%), Fallot 
tetralogy (20%), and left ventricular diverticle (20%) 
(Sharma VK. et al. 2001). The treatment consists in 
placing the newborn under a radiant radiator and the 
defect of  the chest wall must be covered with a sterile 
gauze soaked with warm saline solution. Compression of  
the extrathoracic heart should be avoided as there may be 
an overall reduction in cardiac function. When managing 

Figure 1: sagittal ultrasound through the fetal sternum 
(yellow arrow), showing a posterior thoraco-abdominal 
parietal defect with extra-thoracic localization of  the 
heart cavities (white arrow) without pericardial sheath 
and exposing part of  the liver (yellow star).

Figure 2: axial ultrasound cross-section through the 
lower thoracic region of  the fetus, showing pulmonary 
parenchyma (yellow stars), anterior parietal defect (white 
arrow), extra-thoracic heart chambers bathed in amniotic 
fluid (yellow arrow), and a placental edge (black star).

https://journals.e-palli.com/home/index.php/ajmsi


Pa
ge

 
3

https://journals.e-palli.com/home/index.php/ajmsi

Am. J. Med. Sci. Innov. 2(1) 1-3, 2023

the airway, you should expect difficult intubation 
secondary to the anterior and cephalic direction of  the 
heart. If  a prenatal diagnosis is made, one can electively 
intubate at the time of  delivery by caesarean section with 
maternal placental support. The surgical strategy depends 
on the size of  the parietal defect, the associated cardiac 
abnormalities, and the type of  ectopia cordis (Mohta A, 
et al. 1993). 
In developing countries, whether the diagnosis is 
antenatal or post-natal, the prognosis is almost always 
fatal. A study of  a series of  10 patients with antenatal 
diagnosis showed a uniformly fatal outcome without 
any management (Kumar Basant, 2008). The lack of  
equipped and functional cardiovascular surgery could 
explain this poor prognosis. In our case, the only chance 
to have a better prognosis of  survival in front of  such 
an anomaly is to carry out an in utero transfer to foreign 
hospitals because the technical trays in Madagascar do 
not yet allow an adequate management of  these complex 
malformations.

CONCLUSION
Ectopia cordis is a rare birth defect, often associated with 
other birth defects. Ultrasound plays an important role 
in antenatal diagnosis and the search for other related 
malformations. Primarily surgical management remains 
a challenge, especially in low-income countries where 
prognosis is always reserved. When diagnosed early in 
utero, a high proportion of  abortions is expected, hence 
the interest of  regular pregnancy follow-up.

REFERENCES
Hornberger L K , Colan S D, Lock J E, David L W, Mayer 

J E. (1996). Outcome of  patients with ectopia cordis 
and significant intracardiac defects. Circulation, 94, 32-
7.

Apte AV. (2008). Thoraco-Abdominal Ectopia Cordis : A 
Rare Entity - Case Report and Review of  litterature. 
People’s Journal of  Scientific Research, 1, 31-33.

Kaplan L C, Matusoka R, Gilbert E F, Opitz J M, Kurnit D 
M. (1985). Ectopia cordis and cleft sternum: evidence 
of  mechanical teratogenesis following rupture of  the 
chorion or the yolk sac. Am. J. Med. Genet., 21, 187-
202.

Chelli, D., Dimassi, K., Jallouli-Bouzguenda, S., Ebdellah, 
E., Hermi, F., Zouaoui, B., ... & Gaigi, S. (2008). 

Prenatal diagnosis of  ectopia cordis: case report. 
Tunisie Medicale, 86(2), 171-173.

Harrison M R, Filly R A, Stanger P, De Lorimier A A. 
(1982). Prenatal diagnosis and management of  
omphalocele and ectopia cordis. J Pediatr Surg, 17, 64-
66.

Leca, F., Thibert, M., Khoury, W., Fermont, L., Laborde, 
F., & Dumez, Y. (1989). Extrathoracic heart (ectopia 
cordis). Report of  two cases and review of  the 
literature. International journal of  cardiology, 22(2), 221-
228.

Twomey, E. L., Moore, A. M., Ein, S., McAuliffe, 
F., Seaward, G., & Yoo, S. J. (2005). Prenatal 
ultrasonography and neonatal imaging of  complete 
cleft sternum: a case report. Ultrasound in Obstetrics 
and Gynecology: The Official Journal of  the 
International Society of  Ultrasound in Obstetrics and 
Gynecology, 25(6), 599-601.

Diaz, J. H. (1992). Perioperative management of  neonatal 
ectopia cordis: report of  three cases. Anesthesia & 
Analgesia, 75(5), 833-837.

Mohta A, Bagga D, Anand R. (1993). Ectopia cordis: 
report of  two cases. Indian Heart J., 45, 133-4.

Morello, M., Quaini, E., Nenov, G., & Pome, G. (1994). 
Extrathoracic ectopia cordis. Case report. The Journal 
of  cardiovascular surgery, 35(6), 511-515.

Mittermayer, C., Bernaschek, G., & Lee, A. (2002). 
Diagnosis of  ectopia cordis with three‐dimensional 
power Doppler ultrasound in first‐trimester 
pregnancy. Ultrasound in Obstetrics and Gynecology: 
The Official. Journal of  the International Society of  
Ultrasound in Obstetrics and Gynecology, 20(2), 203-205.

Liang, R. I., Huang, S. E., & Chang, F. M. (1997). Prenatal 
diagnosis of  ectopia cordis at 10 weeks of  gestation 
using two‐dimensional and three‐dimensional 
ultrasonography. Ultrasound in Obstetrics and 
Gynecology: The Official. Journal of  the International 
Society of  Ultrasound in Obstetrics and Gynecology, 10(2), 
137-139.

Sharma, V. K., Kiran, U., Sharma, J., Kapoor, P. M., & 
Saxena, N. (2001). Challenges in the management 
of  ectopia cordis. Journal of  cardiothoracic and vascular 
anesthesia, 15(5), 618-623.

Kumar, B., Sharma, C., & Sinha, D. D. (2008). Ectopia 
cordis associated with Cantrell’s pentalogy. Annals of  
Thoracic Medicine, 3(4), 152.

https://journals.e-palli.com/home/index.php/ajmsi

