Prenatal diagnosis of cardiosplenic syndromes by fetal echocardiography: a 10‐year experience

Abstract

Purpose: To assess the accuracy of fetal echocardiography in the diagnosis of cardiosplenic syndromes.Methods: Retrospective survey of 27 fetuses with the pre‐ or postnatal diagnosis of cardiosplenic syndromes in our database over a period of 10 years.Results: In 24 out of 27 fetuses, the diagnosis of cardiosplenic syndrome was confirmed postpartum. In the remainder, two cases of situs inversus totalis with heart block and multiple cardiac malformations, but no evidence of heterotaxy were diagnosed at autopsy or after birth. In one fetus with situs ambiguus, dextrocardia, bradyarrhythmia and transposition of great arteries (TGA) no autopsy was performed after termination of pregnancy. In 18 fetuses, left atrial isomerism were prenatally diagnosed and confirmed at autopsy or postpartum. Main echocardiographic features were azygos continuation of interrupted inferior caval vein (15), complete atrioventricular septal defect (CAVSD) (11), persistent bradyarrhythmia (11), pulmonary stenosis (PS) (9), ventricular septal defect (VSD) (8), fetal hydrops (8) and dextrocardia (5). Other associated cardiac malformations were l‐TGA (2), double outlet right ventricle (DORV) (3), hypoplastic left ventricle (3), and partial/total anomalous venous connection (1/1). Ten pregnancies were terminated, two fetuses demised in utero, six children survived. In six fetuses, right atrial isomerism was prenatally diagnosed and confirmed postpartum. Echocardiographic features were CAVSD (4), dextrocardia (4), PS (2), l‐TGA (1), azygos continuation of interrupted inferior caval vein (1), fetal hydrops (1), DORV (1) and bradyarrhythmia with cardiomegaly (1). One pregnancy was terminated, two fetuses demised within 10 days postpartum, three children survived.Conclusion: A combination of CAVSD, first and early second trimester persistent bradyarrhythmia and/or azygos continuation of interrupted inferior caval vein, and/or visceral situs ambiguus should suggest specific diagnosis of cardiosplenic syndrome. The correct diagnosis made in utero allows for maternal counseling and transfer to an appropriate facility prior to delivery for corrective surgery.