Ebstein’s Anomaly of the Tricuspid Valve in the Fetus – A Multicenter Experience

Abstract

Purpose To assess the spectrum of associated anomalies, the intrauterine course, the outcome and possible prognostic markers in prenatally diagnosed Ebstein’s anomaly (EA).

Materials and Methods All cases of EA diagnosed over a period of 13 years with a minimum follow-up of 1 year were retrospectively collected in 4 tertiary referral centers in Germany.

Results In the study period 76 cases of EA were prenatally diagnosed. The mean gestational age at diagnosis was 25.0 weeks (range: 13 – 35). 41 (53.9 %) cases were isolated and 35 (46.1 %) had other cardiac and/or extracardiac anomalies. 19 (25.0 %) pregnant women opted for termination of pregnancy, intrauterine fetal death occurred in 7 cases (9.2 %), neonatal death in 14 cases (18.4 %), death in infancy or childhood in 9 cases (11.8 %) and 27 children (35.5 %) were alive at the last follow-up. After exclusion of terminations, the only parameter inversely correlated with intrauterine survival was hydrops fetalis. Prognostic parameters significantly associated with postnatal non-survival were an abnormal Celermajer index (right atrium/heart ratio > 0.7), cardiomegaly (cardiothoracic circumference ratio > 0.5), absence of antegrade flow over the pulmonary valve and earlier diagnosis in pregnancy.

Conclusion Prenatally diagnosed EA has a high morbidity and mortality with the highest loss rate in the intrauterine and neonatal period. In our study, hydrops fetalis was the only parameter significantly associated with intrauterine demise, while other prenatal markers were only significantly associated with postnatal mortality.

Zusammenfassung

Ziel Das Spektrum assoziierter Fehlbildungen, der intrauterine Verlauf, das Outcome und potentielle prognostische Marker pränatal diagnostizierter Ebstein’scher Anomalien (EA) sollte erfasst werden.

Material und Methoden Alle EA, die in einem Zeitraum von 13 Jahren an 4 Tertiärzentren in Deutschland diagnostiziert wurden und einen Nachverfolgungszeitraum von > 1 Jahr hatten, wurden retrospektiv ausgewertet.

Ergebnisse Im Studienzeitraum wurden 76 Fälle mit EA pränatal diagnostiziert. Das mittlere Gestationsalter bei Diagnosestellung war 25,0 Wochen (13 – 35). In 41 (53,9 %) Fällen war die EA ein isolierter Befund, in 35 (46,1 %) lagen weitere kardiale und/oder extrakardiale Anomalien vor. In 19 Fällen (25,0 %) entschied sich die Mutter für einen Schwangerschaftsabbruch, 7 (9,2 %) Feten verstarben intrauterin, 14 (18,4 %) in der Neonatalperiode, 9 (11,8 %) im Kindesalter und 27 (35,5 %) waren am Ende des Nachverfolgungszeitraumes am Leben. Nach Ausschluss der Schwangerschaftsabbrüche war der Hydrops fetalis der einzige ungünstige prognostische Marker für das intrauterine Überleben. Ungünstige prognostische Marker für das postnatale Überleben waren ein hoher Celemajer Index (Verhältnis rechter Vorhof zur restlichen Herzfläche > 0,7), Kardiomegalie (kariothorakale Ratio > 0,5), fehlender Vorwärtsfluss über der Pulmonalklappe und frühe Schwangerschaftwoche bei Erstdiagnose.

Schlussfolgerung Die pränatal diagnostizierte EA hat eine hohe Morbidität und Mortalität mit der höchsten Verlustrate in der Intrauterin- und Neonatalperiode. In unserer Studie war der Hydrops fetalis der einzige ungünstige Marker für das intrauterine Überleben, während die anderen Parameter nur mit dem postnatalen Outcome korrelierten.

Key words

echocardiography - fetal - Ebstein's anomaly - tricuspid valve

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