A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.

Background: A partial atrioventricular septal defect (AVSD) with a hypoplastic left ventricle and common atrium is a rare combination of cardiac anomalies that can be associated with Ellis-van Creveld (EVC) syndrome.

Case summary: A female neonate with EVC syndrome was diagnosed with an unbalanced AVSD and hypoplastic left ventricle. Pulmonary artery banding and ductus ligation were performed at 23 days after birth. The postoperative course was complicated by moderate atrioventricular valve (AVV) regurgitation and low cardiac output. On postoperative Day 6, emergent extracorporeal membrane oxygenation (ECMO) was performed to treat acute circulatory failure. Under suspicion of systemic ventricular outflow tract obstruction, the Damus-Kaye-Stansel procedure with a systemic-to-pulmonary artery shunt and AVV plasty were performed. Intraoperatively, no ventricular septal defect was found. The right and left AVV orifices were found to be separated. Postoperatively, the patient could not be weaned from cardiopulmonary bypass and continued to receive ECMO support. Eight days postoperatively, a right ventricle-to-pulmonary artery shunt and division of the systemic-to-pulmonary artery shunt were performed to increase the pulmonary blood flow. On postoperative Day 5, the ECMO was successfully removed under continuous infusion of adrenalin, but the patient died of severe renal failure 4 days later. The parents consented to autopsy. The heart was permanently preserved by perfusion-distention fixation and wax infiltration.

Discussion: We reported a rare combination of cardiac defects of common atrium, partial AVSD, and hypoplastic left ventricle associated with EVC syndrome. Accurately diagnosing the presence of ventricular septal defect is essential part in determining surgical treatment strategy.