Prenatal Diagnosis of Cardiosplenic Syndromes: a 10-year Experience

Objective: To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies.

Methods: This was a retrospective survey of fetuses in our databases over a period of 10 years with postnatally confirmed prenatal diagnosis of cardiosplenic syndromes.

Results: In 32 of 35 fetuses the prenatal diagnosis of cardiosplenic syndromes was confirmed postpartum. Twenty-two fetuses had left isomerism. Their main prenatal ultrasound features were interrupted inferior vena cava (n = 21), complete atrioventricular septal defect (n = 15), viscerocardiac heterotaxy (n = 15), persistent bradyarrhythmia (n = 12) and fetal hydrops or nuchal edema (n = 12). Twelve pregnancies were terminated, two fetuses were stillborn and eight infants survived. Ten fetuses had right isomerism. Their main sonographic features were juxtaposition of the descending aorta and inferior vena cava (n = 7), complete atrioventricular septal defect (n = 7), left persistent superior vena cava (n = 6) and viscerocardiac heterotaxy (n = 6). In this group there was one stillbirth, five infant deaths and four survivors. The overall survival rate and spectrum of other cardiac malformations were similar between the two groups. Prenatal diagnosis of other visceral features of cardiosplenic syndromes was inconsistent.

Conclusion: Cardiosplenic syndromes can be diagnosed with high accuracy by prenatal sonography. A diagnosis of left isomerism should be strongly suggested in the presence of a combination of at least two of the following: (1) complete atrioventricular septal defect or other structural heart disease; (2) interruption of inferior vena cava with azygos continuation; (3) early fetal heart block; (4) viscerocardiac heterotaxy. Right isomerism should be suspected in the presence of a combination of at least two of the following: (1) structural heart disease, namely complete atrioventricular septal defect; (2) juxtaposition of inferior vena cava and descending aorta; (3) viscerocardiac heterotaxy.