Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era A Multicenter Study

Background —Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multi-center study to assess outcomes and factors associated with mortality after fetal diagnosis in the current era. Methods and Results —Fetuses diagnosed with EA/TVD from 2005-2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death prior to neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age (GA) of 27 ± 6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died prior to discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were GA <32 weeks (odds ratio (OR) 8.6 [95% confidence interval: 3.5 - 21.0]; p<0.001), tricuspid valve annulus diameter z-score (OR 1.3 [1.1 - 1.5]; p<0.001), pulmonary regurgitation (PR) (OR 2.9 [1.4 - 6.2]; p<0.001), and a pericardial effusion (OR 2.5 [1.1 - 6.0]; p=0.04). Non-survivors were more likely to have PR at any GA (61% vs. 34%; p<0.001), as well as lower GA and weight at birth (35 vs. 37 weeks; 2.5 vs. 3.0 kg; both p<0.001). Conclusions —In this large, contemporary series of fetuses with EA/TVD, perinatal mortality remained high. Fetuses with PR, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.