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Prenatal diagnosis of ebstein's anomaly: An autopsy correlation predicting poor prognosis

Ebstein's anomaly (EA) is rare but not an uncommon congenital heart disease in the fetus. Fetal echocardiogram has progressed to detect many forms of congenital heart diseases, especially to assess the prognosis of EA based on their anatomy and presentation in utero causing nonimmune hydrops. Fetal echocardiographic findings of cardiomegaly, apical displacement of tricuspid valve with severe regurgitation, can confirm the diagnosis of EA in utero. Severe cardiomegaly and nonimmune hydrops further contribute poor prognosis leading to fetal demise. Identifying fetal risk factors for predicting perinatal mortality is important, including the lack of antegrade flow across the pulmonary valve and retrograde duct flow. Here, we describe fetal echocardiographic findings of a case of EA causing severe cardiomegaly, restricted growth of the lungs, and hydrops in a 26-year-old primigravida at 20 weeks of gestation. The diagnosis was further correlated with the autopsy, characterized by severe cardiomegaly, huge right atrium, apical displacement, and tethering of septal and posterior leaflet, with markedly reduced lung volumes. Autopsy findings of dilated ductus further suggestive of possible reversed ductal flow causing circular shunt in EA raising the possibility of the poor postnatal outcome, even intrauterine death, and warranted for safe termination. Poor prognostic factors in EA have also been discussed with autopsy findings.