Outcome of patients with ectopia cordis and significant intracardiac defects

Abstract

Background: Previous reports suggest a poor prognosis for patients with ectopia cordis and significant congenital heart disease.

Methods and results: To determine the outcome of affected patients in a recent medical and surgical era, we reviewed the clinical course, echocardiograms, catheterization data, and operative reports of all patients with ectopia cordis and significant heart disease encountered at Children's Hospital from 1982 to the present. We identified 13 patients with conotruncal defects and either thoracic (TEC, n = 4) or thoracoabdominal (TAEC, n = 9) ectopia cordis. Diagnosis was established in utero in 6, with termination of pregnancy in 2 and death before transfer to Children's Hospital in 1. Of 10 patients postnatally managed at Children's Hospital, 4 of 8 with TAEC and 1 of 2 with TEC survived beyond infancy, with an age at most recent follow-up of 3.5 to 9.8 years. All 5 survivors had procedures as neonates to provide skin coverage over the midline defect and heart, with concomitant repair of a small omphalocele in 4. Three underwent successful surgical repair of the cardiac defect, including ventricular septal defect closure for double-outlet right ventricle (9 months), repair of tetralogy of Fallot with pulmonary atresia (2.6 years), and repair of double-outlet right ventricle, pulmonary stenosis, and total anomalous pulmonary venous connection to the coronary sinus (3.3 years). Two other patients with TAEC, conoventricular defects, and hypoplastic left ventricle underwent single-ventricle palliation. One patient, at 4 years of age underwent a right cavopulmonary anastomosis and intra-atrial coronary sinus-to-right superior vena cava baffle. The second patient had a modified Fontan procedure. None of the 5 survivors had significant extrathoracic defects, whereas all 3 who died by 3 weeks of age had both a large omphalocele and pulmonary hypoplasia. Two infants with pentalogy of Cantrell, 1 with a large omphalocele, died of fungal sepsis by 5 weeks of age, and 1 other died intraoperatively after repair of pulmonary venous confluence obstruction and right Blalock-Taussig shunt placement.

Conclusions: Our experience indicates that patients with TEC and TAEC and significant intracardiac defects, in the absence of significant extracardiac defects, can survive beyond early infancy and undergo successful cardiac repair or more definitive palliation for single-ventricle physiology.