Single Ventricle and Total Anomalous Pulmonary Venous Connection: Implications of Prenatal Diagnosis

Abstract

Background: Single ventricle (SV) patients with total anomalous pulmonary venous connection (TAPVC) are at high risk. Given the limited published data available, we examined outcomes and the implications of a prenatal diagnosis of SV/TAPVC.

Methods: A single-center, retrospective review was performed in neonates with SV/TAPVC from 1998 to 2014, identified through institutional databases. Patient demographic, perioperative, and follow-up data were collected.

Results: Thirty-four eligible infants with SV/TAPVC were identified (mean birth weight: 3.0 kg). The TAPVC types were supracardiac (59%), infracardiac (21%), mixed (12%), and cardiac (9%). Heterotaxy syndrome was present in 25 (74%) infants. A prenatal diagnosis of SV was made in 26 (76%) infants, with TAPVC identified in 12 (35%). Seventeen (50%) had obstructed TAPVC within the first 48 hours of life; 7 of these patients had obstructed TAPVC identified prenatally. There were two preoperative deaths. Overall survival for the cohort was 65% at 1 year and 50% at 3 years. Survival in the obstructed group was significantly worse compared to the unobstructed group (47% vs 81% at 1 year; 27% vs 73% at 3 years, P = .01). Obstructed TAPVC and a prenatal prediction of obstructed TAPVC were significantly associated with postoperative mortality ( P = .01 and .03, respectively).

Conclusions: Patients with SV/TAPVC remain a high-risk group, with obstructed TAPVC a significant risk factor for mortality. Prenatal diagnosis of TAPVC in SV patients is challenging, but given those with obstructed TAPVC are especially at high risk, improved prenatal diagnostic techniques in this group may enhance counseling/delivery planning.

Keywords: congenital heart disease; functionally univentricular heart; hypoplastic left heart syndrome; prenatal diagnosis; single ventricle; total anomalous pulmonary venous connection.