• Users Online: 203
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 13  |  Issue : 2  |  Page : 154-156

Prenatal ultrasound diagnosis of ectopia cordis


Department of Radiodiagnosis, Government Medical College and Associated Group of Hospitals, Kota, Rajasthan, India

Date of Web Publication4-Aug-2016

Correspondence Address:
Dharmraj Meena
Department of Radiodiagnosis, Government Medical College and Associated Group of Hospitals, Kota - 324 001, Rajasthan
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0189-7969.187743

Rights and Permissions
  Abstract 

Ectopia cordis is a rare congenital abnormality characterized by partial or complete displacement of the heart outside the thoracic cavity. It can be associated with other congenital abnormalities. The present case is the prenatal ultrasonographic diagnosis of ectopia cordis with sternal cleft, gastroschisis, fetal ascites, and bilateral pleural effusion illustrated in a 34 weeks gestation fetus and correlated with postnatal findings.

Keywords: Ectopia cordis, gastroschisis, prenatal diagnosis, sternal cleft


How to cite this article:
Meena D, Jangid B. Prenatal ultrasound diagnosis of ectopia cordis. Nig J Cardiol 2016;13:154-6

How to cite this URL:
Meena D, Jangid B. Prenatal ultrasound diagnosis of ectopia cordis. Nig J Cardiol [serial online] 2016 [cited 2019 Jun 17];13:154-6. Available from: http://www.nigjcardiol.org/text.asp?2016/13/2/154/187743


  Introduction Top


Haller [1] first described the term ectopia cordis in 1706. The term was derived from Greek word ektopos meaning away from a place. Ectopia cordis is defined as a complete or partial displacement of the heart outside the thoracic cavity. Ectopia cordis may occur as an isolated malformation or it may be associated with a large category of ventral wall defects that affect the thorax, abdomen, or both. All these are due to defects in the ventral body wall midline fusion during development. The incidence of ectopia cordis is 5.5-7.9 in 1 million births. [2] It is more common in females. Kim et al.[3] in 1997 classify the ectopia cordis into five types. Depending on the position of the heart, they are (1) thoracic, (2) abdominal, (3) thoracoabdominal, (4) cervical, and (5) cervicothoracic. Thoracic type is more common and cervical type is the rarest.

The thoracoabdominl ectopia cordis associated with sternal cleft, diaphragmatic hernia, omphalocele, and an intracardiac defect is known as Cantrell's pentalogy. [4]


  Case report Top


A primigravida with 34 weeks of amenorrhea and no risk factors for congenital defects was referred to us for a routine obstetric ultrasound. There was no history of consanguineous marriage, antenatal infection, and drug ingestion. We performed a fetal ultrasound and found a lower chest and upper abdominal ventral wall defect with a complete herniation of the heart through the thoracic cavity [Figure 1]. The part of the left hepatic lobe and peritoneal membrane was also seen bulging through the lower part of midline defect [Figure 2]. We noted the moderate amount of fetal ascites and bilateral pleural effusion with generalized body wall edema. Craniofacial structures, spine, genitourinary system, and both extremities were normal. After overnight, spontaneous delivery occurred.
Figure 1: Ultrasonographic image of fetal trunk showing lower chest and upper abdominal ventral wall defect with complete herniation of the heart through the thoracic cavity

Click here to view
Figure 2: Ultrasonographic image of fetal showing the part of the left hepatic lobe and peritoneal membrane bulging through the just lower part of midline defect

Click here to view


The postnatal examination findings of the newborn were collaborated with prenatal ultrasound findings [Figure 3]. The newborn deteriorated rapidly, in spite of supportive management and died unfortunately within few hours of birth before any investigations and surgical intervention could be undertaken. Intracardiac structures were very well seen. Autopsy could not be done because of few religious reasons.
Figure 3: Photograph of newborn showing complete herniation of heart, part of left hepatic lobe, and peritoneal membrane through midline thoracoabdominal anterior wall defect

Click here to view



  Discussion Top


Ectopia cordis is a rare and striking congenital heart defect, which was first observed 5000 years ago. [5] The term ectopia cordis was first coined by Haller [1] in 1706. The defect is described as malposition of the heart, partially, or completely outside the thorax.

Genesis of ectopia cordis has not been fully explained although several theories have been offered. [6] Predominant theory states that there is primary failure of descent and midline fusion of the lateral body folds [7] early rupture of chorion and / or yolk sac causing failure of midline fusion, amniotic band syndrome (Dobell); [6] ectopia cordis may be associated with major chromosomal anomaly, especially trisomy 18. [8]

The majority of ectopia cordis patients have associated intracardiac defects. Ventricular septal defect, atrial septal defect, tetralogy of Fallot, and diverticulum of the ventricle are the most commonly encountered heart lesions. [9],[10] In our case, intracardiac structures were very well seen and few religious reasons cause autopsy could not be done. The present case is thoracoabdominal type ectopia cordis.


  Conclusion Top


Although ectopia cordis is not a very rare abnormality but if present it is associated with sternal cleft, diaphragmatic hernia, omphalocele, and an intracardiac defect is known as Cantrell's pentalogy. The presented case of ectopia cordis was associated with sternal cleft, gastroschisis along the minimal bulging the part of the left hepatic lobe and peritoneal membrane just the lower part of the midline defect. Other findings were moderate amount of fetal ascites and bilateral pleural effusion with generalized body wall edema. The present case was not completely considered within any known alternative diagnosis of gastroschisis associated complex, nonsyndromic, and syndromic anomalies. The presented case of ectopia cordis with gastroschisis therefore highlight the without associations of the intracardiac defect and diaphragmatic hernia in prenatal ultrasound diagnosis. Without association of intracardiac defect and diaphragmatic hernia, ectopia cordis was proven to be a rare case.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Jain PK, Budhwani KS, Ghritlaharey RK. Ectopia cordis thoracalis with facial cleft. Indian J Radiol Imaging 2003;13:415-6.  Back to cited text no. 1
  Medknow Journal  
2.
Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 1996;94 9 Suppl: II32-7.  Back to cited text no. 2
    
3.
Kim KA, Vincent WR, Muenchow SK, Wells WJ, Downey SE. Successful repair of ectopia cordis using alloplastic materials. Ann Plast Surg 1997;38:518-22.  Back to cited text no. 3
    
4.
Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: A case report and review of the syndrome. Pediatrics 1972;50:778-92.  Back to cited text no. 4
[PUBMED]    
5.
Taussig HB. World survey of the common cardiac malformations: Developmental error or genetic variant? Am J Cardiol 1982;50:544-59.  Back to cited text no. 5
[PUBMED]    
6.
Dobell AR, Williams HB, Long RW. Staged repair of ectopia cordis. J Pediatr Surg 1982;17:353-8.  Back to cited text no. 6
[PUBMED]    
7.
Humpl T, Huggan P, Hornberger LK, McCrindle BW. Presentation and outcomes of ectopia cordis. Can J Cardiol 1999;15:1353-7.  Back to cited text no. 7
    
8.
Achiron R, Shimmel M, Farber B, Glaser J. Prenatal sonographic diagnosis and perinatal management of ectopia cordis. Ultrasound Obstet Gynecol 1991;1:431-4.  Back to cited text no. 8
    
9.
Amato JJ, Zelen J, Talwalkar NG. Single-stage repair of thoracic ectopia cordis. Ann Thorac Surg 1995;59:518-20.  Back to cited text no. 9
    
10.
Leca F, Thibert M, Khoury W, Fermont L, Laborde F, Dumez Y. Extrathoracic heart (ectopia cordis). Report of two cases and review of the literature. Int J Cardiol 1989;22:221-8.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case report
Discussion
Conclusion
References
Article Figures

 Article Access Statistics
    Viewed1227    
    Printed10    
    Emailed0    
    PDF Downloaded77    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]