Figure 5: Sagittal view of the embryology from day 18 to day 22.
Complete or incomplete failure of midline fusion at this embryonic stage can result in a variety of disorders ranging from isolated ectopia cordis to complete ventral evisceration. Early rupture of the chorion and/or yolk sac causing compression of the thorax preventing midline fusion has been proposed as mechanical cause of these defects as has early rupture of the amnion with formation of fibrous amniotic bands8-10. Ectopia cordis has been attributed to intrauterine drug exposure in animal models, a finding which has not been confirmed in humans11,12.
Ectopia cordis is frequently associated with other congenital defects involving multiple organ systems (Table 1).
Table 1: Anomalies associated with ectopia cordis4,5,8,9,13,14
Central nervous system
g cranial clefting
g cleft lip
g cleft palate (usually midfacial)
g Atrial & ventricular septal defects
g Tetralogy of Fallot
g pulmonary stenosis
g tricuspid stenosis
g mitral atresia
g pulmonary atresia
g coarctation of the aorta
g double outlet right ventricle
g endocardial cushion defects
g pericardial defect
g pulmonary venous anomalies
g hypoplastic lung
Abdomen – gastrointestinal genitourinary
g limb hypoplasia
g sternal clefts
g diastasis recti
g diaphragmatic hernia
g intestinal malrotation
g single umbilical artery
g absent gallbladder
Ventricular septal defect and Tetralogy of Fallot are the most common intracardiac defects while omphalocele is the most common abdominal wall defect associated with ectopia cordis.
While ectopia cordis is generally considered to be an isolated, sporadic malformation, there have been a number of reports linking it to chromosomal abnormalities. Reported karyotypic abnormalities include trisomy 1815-18, Turner syndrome19 and 46,XX,17q+20. The karyotype on the present case, 46,XX,16qh+, has to our knowledge not previously been reported in association with ectopia cordis. It may represent a normal familial variant of chromosome 16, and parental testing would be needed to ascertain the normality of this. However, both parents have refused such testing. In general, chromosomal analysis is indicated in a patient with ectopia cordis diagnosed prenatally especially if other anomalies are also identified.
The prognosis is generally poor and depends on the severity of intracardiac malformations and the presence of associated abnormalities. Most infants are stillborn or die within the first hours or days of life. Attempts at surgical correction have been largely unsuccessful due to the extent of the associated anomalies. Recommendations for surgical management include immediate covering of the exposed heart and abdominal contents with a silastic prosthesis, as well as full evaluation and correction of any intracardiac defects prior to replacement of abdominal contents21,22. The procedure often fails secondary to kinking of the great vessels or mechanical compression of the heart resulting in decreased cardiac output23-26.
Obstetrical management should include a careful search for associated anomalies, especially cardiac, and assessment of fetal karyotype. Pregnancy termination prior to viability and a nonaggressive management in the third trimester should be considered and discussed with the parents. As this is considered a sporadic event, the recurrence risk is not elevated over that of the general population.
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6.Toyama WM: Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatr 50:778-792, 1972.
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17. King CR: Ectopia cordis and chromosomal errors. Pediatrics 66:328, 1980.
18. Soper SP, Roe LR, Hoyme HE, Clemmons JJW: Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: Case report. Pediatr Pathol 5:481-483, 1986.
19. Garson A, Hawkins EP, Mullins CE, Edwards SB, Sabiston DC, Cooley DA: Thoracoabdominal ectopia cordis with mosaic Turner"s syndrome: Report of a case. Pediatrics 62:218-221, 1978.
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23. Glass RB, Fernbach SK: Case report: Ectopia cordis and the radiographic changes of a new surgical repair technique. Clinical Radiology 38:443-4, 1987.
24. Todros T, Presbitero P, Montemurro D, Levis F: Prenatal diagnosis of ectopia cordis. J Ultrasound Med 3:429-431, 1984.
25. Jones AF, McGrath RL, Edwards SM, Lilly JR: Immediate operation for ectopia cordis. Ann Thorac Surg 28:484-486, 1979.
26. Dougall AJ, Grant JC: Ectopia cordis: Report of a case with attempted operative correction. J Pediatr Surg 8:959-960, 1973.