Prenatal Diagnosis, Course and Outcome of Patients with Truncus Arteriosus Communis

Abstract

Background: The objective of our study was to assess the prenatal course, associated anomalies and postnatal outcome and the predictive value of various prenatal parameters for survival in prenatally diagnosed cases of truncus arteriosus communis (TAC). Methods: We evaluated cases from four centers between 2008 and 2021. Results: In 37/47 cases (78.7%), classification into a Van Praagh sbtype was possible, most had TAC type A1 (18/37 = 48.6%). In 33/47 (70.2%) with available valve details on common trunk valve, most presented with tricuspid valves (13/33 = 39.4%). In the overall sample, 14/47 (29.8%) had relevant insufficiency, and 8/47 (17%) had stenosis. In total, 37/47 (78.7%) underwent karyotyping, with 15/37 (40.5%) showing abnormal results, mainly 22q11.2 microdeletion (9/37 = 24.3%). Overall, 17/47 (36.2%) had additional extracardiac anomalies (17/47 = 36.2%). Additional intracardiac anomalies were present in 30/47 (63.8%), or 32/47 (68.1%) if coronary anomalies were included. Four (8.5%) had major defects. Two (4.3%) intrauterine deaths occurred, in 10 (21.3%) cases, the parents opted for termination, predominantly in non-isolated cases (8/10 = 80.0%). A total of 35/47 (74.5%) were born alive at 39 (35-41) weeks. Three (8.6%) pre-surgical deaths occurred in non-isolated cases. In 32/35 (91.4%), correction surgery was performed. The postoperative survival rate was 84.4% (27/32) over a median follow-up of 51.5 months. Initial intervention was performed 16 (1-71) days postpartum, and 22/32 (68.8%) required re-intervention. Regarding prenatal outcome-predicting parameters, no significant differences were identified between the survivor and non-survivor groups. Conclusions: There exist limited outcome data for TAC. To our knowledge, this is the largest multicenter, prenatal cohort with an intention-to-treat survival rate of almost 85%.

Keywords: congenital heart disease; prenatal diagnosis; prenatal outcome prediction; truncus arteriosus communis.

Figure 1

Van Praagh subtypes in TAC. Subtype A1: main pulmonary artery is present and bifurcates into the left and right pulmonary arteries; subtype A2: right and left branch pulmonary arteries arising from a common trunk; subtpe A3: one pulmonary artery branch arising from the common trunk and the other branch from the aorta; subtype A4: presence of aortic arch hypoplasia, coarctation or interrupted arch.

Figure 2

Prenatal echocardiography of TAC. (a) The five-chamber view showing the presence of a thickened truncal valve that overrides a large VSD (arrow); (b) The three vessels view showing two vessels: superior vena cava and truncal vessel (subtype A1): pulmonary trunk arising from the truncal vessel); (c) example of subtype A4 in which aorta and MPA arise from the common arterial trunk and interrupted aorta divides into brachiocephalic and left common carotid arteries (IAA Type B). TV = truncal vessel; VSD = ventricular septal defect; LV = left ventricle; RV = right ventricle; PT = pulmonary artery trunk, Ao Asc = ascending aorta; Pulm Art = pulmonary artery; IAA = interrupted aortic arch.

Figure 2

Prenatal echocardiography of TAC. (a) The five-chamber view showing the presence of a thickened truncal valve that overrides a large VSD (arrow); (b) The three vessels view showing two vessels: superior vena cava and truncal vessel (subtype A1): pulmonary trunk arising from the truncal vessel); (c) example of subtype A4 in which aorta and MPA arise from the common arterial trunk and interrupted aorta divides into brachiocephalic and left common carotid arteries (IAA Type B). TV = truncal vessel; VSD = ventricular septal defect; LV = left ventricle; RV = right ventricle; PT = pulmonary artery trunk, Ao Asc = ascending aorta; Pulm Art = pulmonary artery; IAA = interrupted aortic arch.

Figure 3

Chromosomal anomalies within our prenatal TAC cohort.

Figure 4

Outcomes within our prenatal TAC cohort. TAC = truncus arteriosus communis; TOP = termination of pregnancy, IUD = intrauterine death.