Ectopia Cordis (Pentalogy of Cantrell)

Ectopia Cordis
Omphalocele

Findings:

The sonogram demonstrates the fetal heart (arrow) lying outside of the thoracic cavity. In addition an omphalocele, ascites, pleural effusions, a small diahragmatic hernia and ventricular septal defect were identified.

Discussion:

Ectopia cordis is an extremely rare anterior thoraco-abdominal wall defect. Embryologically it should be thought of as sternal cleft defect resulting from a failure of fusion of the mesenchymal primordia that will form the cartilaginous sternum and the ventral abdominal wall at five to six weeks. Abnormalities may present as a spectrum varying from simple defects of the sternum to Pentalogy of Cantrell, as in this case. These abnormalities have been classified in two different ways. In 1977 Ravitch classified sternal cleft syndromes into three groups. In the first group there was simple failure of complete sternal fusion with no abnormalites of the intrathoracic structures. The second group was comprised of the patients with ectopia cordis with a normal heart protruding out of the thorax. The third group were those fetuses with Pentalogy of Cantrell, described in the 1950's as a mesodermal defect consisting of a deficiency of the anterior diaphragm, a midline supraumbilical anterior abdominal wall defect often with an omphalocele, a defect in the diaphragmatic pericardium, congenital cardiac abnormalities, consisting of a ventricular septal defect or ventricular aneurysm and a defect of the lower sternum. The other classification of the syndromes of ectopia cordis is that of Kanagasuntheram and Verzin. They divided these patients into 5 groups: cervical, thoracocervical, thoracic, thoracoabdominal and abdominal. The most common of these types is the thoracic, accounting for 60% of patients. The next largest group are the abdominal defects where absence of a portion of the diaphragm allows the heart to protrude into the abdominal cavity. Ectopia cordis may also be seen in those patients with amniotic band syndrome.

The prognosis for patients with ectopia cordis is poor. The poor prognosis is related to associated malformations, complex cardiac abnormalites or difficulty returning the heart back into a small thoracic cavity.

References:

Mercer LJ, Petres RE and Smeltzer JS. Ultrasonic diagnosis of ectopia cordis. Obstet Gynecol 61:. 523, 1983

Bennett TL, Burlbaw J, Drake CK and Finley BE Diagnosis of ectopia cordis at 12 weeks gestation using transabdominal ultrasonography with color doppler. J Ultrasound Med 10:695696, 1991

Fleming AD, Vintzileos AM, Rodis JF, Scorza WE et al. Diagnosis of fetal ectopia cordis by transvaginal ultrasound. J Ultrasound Med 10:413-415, 1991

Ravitch MM: Congenital deformities of the chest wall and their operative correction. Philadelphia, WB Saunders, 1977, pp 5-23

Kanagasuntheram R and Verzin JA: Ectopia cordis in man. Thorax 17, 159, 1962

Cantrell JR, Haliex JA and Ravitch MM: A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet 107:602, 1958

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