Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease

Background Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD) are rare anomalies and data on outcomes after a fetal or neonatal EA/TVD diagnosis are conflicting. Methods To examine the outcome and identify markers predictive of mortality, we reviewed our single-centre experience from 2000-2014. Variables were analyzed separately for cases diagnosed in utero without pregnancy termination and for all live-born patients. Results Of 47 fetal cases, 8 (17%) died in utero and 10 (21%) as neonates. Independent predictors associated with fetal demise included severe tricuspid regurgitation with a Doppler gradient < 40 mm Hg (odds ratio, 1.22 per mm Hg deduction; P = 0.003) and pulmonary regurgitation (odds ratio, 11.4; P = 0.03) at the baseline examination. A novel prognostic score (range, 0-10) combining the severity of 5 echocardiographic findings was independently associated with overall mortality (hazard ratio [HR], 1.39 per point increase; P = 0.01). Survival rates of 66 live births at 1 month, 1 year, and 5 years were 86%, 82%, and 80% respectively, and 75%, 60%, and 55% remained free from surgery at the same points in time. Factors associated with postnatal death in multivariate analysis included a younger gestational age at birth (HR per week, 1.59; P < 0.001), tricuspid annulus diameter (HR per z-score increase, 1.76; P = 0.004), and no pulmonary forward flow (HR, 4.63; P = 0.03). Conclusions Our experience with fetal and neonatal EA/TVD shows better survival rates than previously reported. Mortality after a fetal diagnosis was significantly associated with hemodynamic changes indicative of a circular shunt, including pulmonary and tricuspid regurgitation severe enough to cause diastolic umbilical arterial flow reversal.