Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study.

Freud LR, McElhinney DB, Kalish BT, Escobar-Diaz MC, Komarlu R, Puchalski MD, Jaeggi ET, Szwast AL, Freire G, Levasseur SM, Kavanaugh-McHugh A, Michelfelder EC, Moon-Grady AJ, Donofrio MT, Howley LW, Selamet Tierney ES, Cuneo BF, Morris SA, Pruetz JD, van der Velde ME, Kovalchin JP, Ikemba CM, Vernon MM, Samai C, Satou GM, Gotteiner NL, Phoon CK, Silverman NH, Tworetzky W.J Am Heart Assoc. 2020 Nov 3;9(21):e016684. doi: 10.1161/JAHA.120.016684. Epub 2020 Oct 20.PMID: 33076749 Free PMC article.

Take Home Points

• Patients with fetal diagnosis of Ebstein anomaly were managed heterogeneously post-natally.
• Those patients that underwent a neonatal intervention, mortality differed by procedure with right ventricular exclusion procedures having no mortality.
• Low tricuspid valve regurgitation jet and lack of antegrade flow across the pulmonary valve was associated with a higher mortality.

Commentary from Dr. Clifford Cua (Columbus Ohio USA), section editor of Pediatric/Fetal Cardiology Journal Watch: CUA This was a retrospective multicenter follow up study on fetuses that had a fetal diagnosis of Ebstein anomaly (EA) or tricuspid valve dysplasia (TVD) who survived to birth. The goal of this study was to describe the management strategies post-natally for these patients as well as to define any clinical or echocardiographic parameters associated with mortality and, among survivors, a palliated versus biventricular circulation outcome.

Retrospective multicenter (23 institutions) database query from 2005 to 2011 was performed. Singleton fetuses without other associated anomalies, no fetal interventions, and who survived to birth were reviewed. Clinical and echocardiographic data were reviewed at various time points.

176 live births occurred and 22 patients were excluded, therefore the cohort evaluated consisted of 154 patients. Earlier gestational age at birth, lower birth weight, lower APGAR scores, increased medical management, and > 1 neonatal surgeries were associated with increased mortality (Table 1 and Figure 1). 83/154 patients did not undergo any intervention. 66/83 of these patients survived to discharge (Figure 2). Various interventions were performed on the 71 patients that underwent a procedure (Table 2). All patients who underwent a right ventricular exclusion survived. Mortality was highest for RV-PA conduit placement (50%), shunt or ductal stent placement (48%), and TV repair (42%).

Multiple echocardiographic parameters were significantly different between survivors and non-survivors with univariate analysis, but only lower TR velocity (OR 2.3 [1.1 – 5.0]) and lack of antegrade flow across the pulmonary valve (OR 4.5 [1.3 – 14.2]) was associated with neonatal mortality. When including clinical data in the model, lower birth weight (OR 4.5 [1.8 – 11.1]) and lower TR jet (OR 4.2 [1.9 – 9.1]) were significantly associated with mortality.

All patients who underwent a palliation with right ventricular exclusion and a TR velocity < 3.0 m/s and no antegrade pulmonary blood flow. Those that underwent a TV repair as part of a biventricular pathway, patients with a TR velocity < 2.5 m/s had 50% mortality whereas patients with a TR velocity > 3/0 m/s all survived.

In this large multisite study of patients with a fetal diagnosis of TV abnormalities who survived > 24 hours after birth, birth weight, TV velocity, and pulmonary blood flow was associated with mortality. This study also showed the wide variability in medical and surgical management across institutions. The limitations of the study include its retrospective nature as well as the inability to control for various biases present in the selection of treatment options. Despite this, the study benefits from the large number of patients evaluated considering the rarity of the disease and is useful from a descriptive nature. In addition, with variables identified as being associated with mortality, more informed decisions may be made in the future for this patient population.