Ectopia cordis is a rare malformation in which the fetal heart is present in an extrathoracic location.
It is easily diagnosable by fetal ultrasound, as early as 10 weeks of gestation.
Detailed fetal echocardiography is recommended to confirm whether the internal cardiac anatomy is normal, as the prognosis is essentially lethal if associated cardiac malformations are present.
Detailed general fetal sonographic anatomical evaluation and amniocentesis for fetal karyotype are recommended, because of reported associations with other malformations.
If a patient chooses to continue the pregnancy and no other malformations are present, planned elective cesarean delivery at term, with immediate availability of neonatologists, pediatric surgeons and cardiac surgeons, is recommended.
Postnatal survival has been rarely reported in cases in which no associated malformations are present.
There have been no reported cases of recurrence of ectopia cordis.
Thoracic wall defects arise from failure of part or all of the sternum to develop. These defects may involve only the sternum or may be associated with more severe anomalies. The most striking of these is ectopia cordis. Ectopia cordis is defined as a portion or all of the heart being located in an extrathoracic position. Ravitch (1985) has classified sternal defects into three major groups: cleft sternum without associated anomalies, true ectopia cordis, and pentalogy of Cantrell (see Chapter 61) (Table 59-1).
Table 59-1Ravitch’s Classification of Sternal Clefts |Favorite Table|Download (.pdf) Table 59-1 Ravitch’s Classification of Sternal Clefts
|Cleft sternum without associated anomalies |
V- or U-shaped clefts of the upper sternum involving manubrium and one or two sternebrae
Lower sternum cleft with the xiphoid process united Entire sternum cleft
|True ectopia cordis with varying degrees of cleft sternum with the heart outside the chest wall, usually internally malformed and with other malformations |
|Cantrell’s pentalogy composed of the following anomalies: |
Cleft or absent distal sternum
Crescenting ventral diaphragmatic defect
Midline ventral abdominal defect or omphalocele
Defect at the apical pericardium with communication with the peritoneal cavity
Sternal defects are commonly associated with ectopia cordis. A spectrum of sternal defects also occurs without displacement of the heart (Skandalakis and Gray, 1994). In rare cases, segments of the sternum are absent. The xiphoid process is the sternal element most commonly absent. Byron (1948) reported a case in which only the manubrium remained. Martin and Helsworth (1962) reported a case of clavicles and upper ribs attached to an abnormally small manubrium separated from lower ribs attached to a sternum element. Complete absence of all sternal elements is rare, but has been reported, and can be successfully reconstructed (Asp and Sulamoa, 1961). In contrast to absent sternal elements, failure of sternal fusion may occur with wide separation of ...