Ebstein anomaly and tricuspid valve dysplasia 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 multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era.Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age 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 before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001).In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.
Background: A recent multi-center study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia (EA/TVD) found that 1/3rd of live-born patients (pts) died prior to hospital discharge. The purpose of this study was to explore differences in postnatal management and the relationship to outcome. Methods: This 23-center, retrospective study included 243 fetuses with EA/TVD from 2005 to 2011. Neonatal procedure (NP) was defined as surgery or interventional catheterization (cath) prior to discharge. Associations between postnatal management and outcome at discharge were explored. Results: Of 176 live-born pts, 7 received comfort care only, 11 died <24 hrs of life, and 4 had insufficient data. Among 154 remaining pts, 38 (25%) did not survive to discharge. Pts who required ECMO at any point (n=18) had 83% mortality. More than half of pts (54%) did not have an NP, 34% had surgery, 8% had interventional cath, and 4% had both. The median age at 1st NP was 6 days (quartiles: 1-11). Survival did not differ between pts who had an NP and those who did not (70% vs. 80%; p=0.19) or between pts who had surgery and those who did not (68% vs. 80%; p=0.09). However, mortality differed by NP performed and whether pulmonary regurgitation, an indicator of high risk, was present prenatally (Figure). No pts with a right ventricular exclusion (RVE) died. Of 49 surviving neonates with ≥1 procedure, 28 (57%) were palliated with a shunt or RVE and 21 (43%) had a biventricular circulation. Thus, in total, 86 of 154 live-born pts (56%) survived with a biventricular circulation: 65 with medical management only and 21 with ≥1 NP. Conclusion: Among live-born pts diagnosed with EA/TVD in utero, a variety of postnatal management strategies were employed with overall poor outcomes. If surgery beyond PDA ligation is necessary, then RVE or other palliative procedure may need to be considered. A prospective, multi-center study utilizing a management algorithm would help elucidate the optimal strategy.
Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died <24 hours after birth, and 4 had insufficient data. Among 154 remaining patients, 38 (25%) did not survive to discharge. Nearly half (46%) underwent intervention. Mortality differed by procedure; no deaths occurred in patients who underwent right ventricular exclusion. At discharge, 56% of the cohort had a biventricular circulation (13% following intervention) and 19% were palliated. Lower tricuspid regurgitation jet velocity (odds ratio [OR], 2.3 [1.1-5.0], 95% CI, per m/s; P=0.025) and lack of antegrade flow across the pulmonary valve (OR, 4.5 [1.3-14.2]; P=0.015) were associated with neonatal mortality by multivariable logistic regression. These variables, along with smaller pulmonary valve dimension, were also associated with a palliated outcome. Conclusions Among neonates with Ebstein anomaly or tricuspid valve dysplasia diagnosed in utero, a variety of management strategies were used across centers, with poor outcomes overall. High-risk patients with low tricuspid regurgitation jet velocity and no antegrade pulmonary blood flow should be considered for right ventricular exclusion to optimize their chance of survival.
