Fetal Ebstein Malformation

Ebstein’s anomaly is a rare malformation of the tricuspid valve, accounting for <1% of congenital heart disease. Despite its low incidence, it can have significant clinical ramifications as it encompasses anomalies of the tricuspid valve apparatus, the right ventricle, and the conduction system. Depending on the severity of these anomalies, clinical presentation can vary across a spectrum from no symptoms to critical illness at birth. Mortality remains relatively high, especially in prenatally diagnosed severe cases. The anomaly is complicated by its association with chromosomal disorders and extracardiac defects, seen in about 20% of cases. The morphologic consequences of Ebstein’s anomaly create hallmark findings on sonography in prenatal and postnatal life that aid not only with the diagnosis of the lesion but also with risk stratification and prognostication. Postnatal management of moderate to severe disease requires considerable multidisciplinary effort, targeting multiple aspects of postnatal pathophysiology. This chapter reviews the morphology, clinical features, hallmarks of fetal imaging, as well as principles of postnatal management of this significant cardiac lesion.