|Year : 2016 | Volume
| Issue : 2 | Page : 154-156
Prenatal ultrasound diagnosis of ectopia cordis
Dharmraj Meena, Babita Jangid
Department of Radiodiagnosis, Government Medical College and Associated Group of Hospitals, Kota, Rajasthan, India
|Date of Web Publication||4-Aug-2016|
Department of Radiodiagnosis, Government Medical College and Associated Group of Hospitals, Kota - 324 001, Rajasthan
Source of Support: None, Conflict of Interest: None
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
| Introduction|| |
Haller  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.  It is more common in females. Kim et al. 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. 
| Case report|| |
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|
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|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|
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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|
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| Discussion|| |
Ectopia cordis is a rare and striking congenital heart defect, which was first observed 5000 years ago.  The term ectopia cordis was first coined by Haller  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.  Predominant theory states that there is primary failure of descent and midline fusion of the lateral body folds  early rupture of chorion and / or yolk sac causing failure of midline fusion, amniotic band syndrome (Dobell);  ectopia cordis may be associated with major chromosomal anomaly, especially trisomy 18. 
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. , 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|| |
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]