A rare congenital anomaly: ectopia cordis and Cantrell pentalogy

Objective

In this study, we aimed to present two cases of ectopia cordis which diagnosed in the prenatal period.

Introduction 

Ectopia Cordis (EC) is a very rare congenital malformation which appears as development of midline defect. EC may be present as an isolated malformation or a component of Cantrell’s Pentalogy.

Case 1 

A 22-years-old pregnant at 15 weeks 1 day gestational age admitted to our fetal medicine centre. Prenatal ultrasound showed a fetus with bilateral hydrothorax, EC, and a large omphalocele with evisceration of the heart (Figure 1). Cantrell’s pentalogy with thoracoabdominal EC was diagnosed and pregnancy was terminated.

Case 2 

A 32-years-old pregnant at 11 weeks 3 days gestational age admitted to our fetal medicine centre. Ultrasound done at our fetal medicine centre revealed absent sternum, ectopia cordis, absent diaphragm, and omphalocele (Figure 2). Cantrell’s pentalogy with thoracoabdominal EC was diagnosed and pregnancy was terminated at 12 weeks and 3 days of gestational age.

Results

The diagnosis of EC in the prenatal period with monitoring of the fetal heart outside the thorax. EC may be associated with intrinsic heart disease and other midline abnormalities. The vast majority of cases has been reported aneuploidi, particularly Trisomi 18, chromosomal analysis is recommended.

Conclusion 

The ectopia cordis can be diagnosed with careful ultrasound examination of the early weeks of pregnancy. The ectopia cordis is especially high risk for Trisomi 18. We suggest that you should keep in mind this condition and amniocentesis should be offered.
 

Keywords

Ectopia Cordis; Cantrell’s Pentalogy; prenatal diagnosis