Presentation and outcome in fetuses and neonates with Ebstein's anomaly

Ebstein's anomaly is an uncommon malformation, representing 0.3% to 0.6% of all cases of congenital heart disease. This malformation consists of apical displacement of the tricuspid valve with resultant tricuspid regurgitation and an atrialized right ventricle. Ebstein's anomaly has a highly variable clinical presentation and outcome in children. We retrospectively reviewed 13 patients with Ebstein's anomaly diagnosed during fetal and neonatal periods between 1988 and 1999 at National Cheng Kung University Hospital. The most common presentation in the fetus was an abnormal prenatal scan (7/7), and in neonates cyanosis (5/6) was seen most often. The most common associated cardiac anomaly was pulmonary atresia (7). Two of the seven patients had true anatomic pulmonary atresia; the other five patients had functional pulmonary atresia. There was a total of 8 deaths. The causes were termination of pregnancy (2), intractable heart failure (4), and perioperative mortality (2). Although the degree of tricuspid regurgitation and the distance of tricuspid valve downward displacement in the survival group were not significantly higher than the mortality group (3.7 cm/m² vs. 5.0 cm/m²), the cardiothoracic ratio in the mortality group (0.88) was significantly higher than in the survival group (0.59)(p<0.05). In Ebstein's anomaly, fetal and neonatal presentation is associated with a poor outcome and can be predicted by echocardiographs, cardiothoracic ratio and presence of associated cardiac lesions.