Ultraschall Med 2017; 38(04): 427-436
DOI: 10.1055/s-0042-107151
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

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

Die fetale Ebstein Anomalie der Trikuspidalklappe – Eine Multicenter-Studie
Ingo Gottschalk
1   Division of Prenatal Medicine and Gynecologic Sonography, Department of Obstetrics and Gynecology, University of Köln, Germany
,
Lea Gottschalk
1   Division of Prenatal Medicine and Gynecologic Sonography, Department of Obstetrics and Gynecology, University of Köln, Germany
,
Rüdiger Stressig
2   praenatal.de Köln, Prenatal Medicine and Genetics, Köln, Germany
,
Jochen Ritgen
2   praenatal.de Köln, Prenatal Medicine and Genetics, Köln, Germany
,
Ulrike Herberg
3   Department of Pediatric Cardiology, University of Bonn, Germany
,
Johannes Breuer
3   Department of Pediatric Cardiology, University of Bonn, Germany
,
Renate Oberhoffer
4   Department of Paediatric Cardiology and Congenital Heart Defects, German Heart Centre Munich, Technical University Munich, Germany
,
Arne Willruth
5   Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany
,
Brigitte Strizek
5   Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany
,
Annegret Geipel
5   Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany
,
Ulrich Gembruch
5   Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany
,
Christoph Berg
1   Division of Prenatal Medicine and Gynecologic Sonography, Department of Obstetrics and Gynecology, University of Köln, Germany
5   Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany
› Author Affiliations
Further Information

Publication History

25 October 2015

29 March 2016

Publication Date:
01 June 2016 (online)

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.

 
  • References:

  • 1 Attenhofer JCH, Connolly HM, Dearani JA. et al. Ebstein’s anomaly. Circulation 2007; 115: 277-285
  • 2 Berg C, Geipel A, Gembruch U. The four-chamber view in fetal echocardiography. Ultraschall in Med 2007; 28: 132-151
  • 3 Gembruch U, Kohl T, Geipel A. et al. Ebstein-Anomalie des Fetus. Gynäkologe 2006; 39: 39-47
  • 4 Lasa JJ, Tian ZY, Guo R. et al. Perinatal course of Ebstein’s anomaly and tricuspid valve dysplasia in the fetus. Prenat. Diagn 2012; 32: 245-251
  • 5 Flores AA, Fernández PL, Quero JC. et al. The clinical profile of Ebstein’s malformation as seen from the fetus to the adult in 52 patients. Cardiol Young 2004; 14: 55-63
  • 6 Deeg KH. Echocardiographic differential diagnosis of the cyanotic newborn. Ultraschall in Med 2015; 36: 104-118
  • 7 Correa-Villaseñor A, Ferencz C, Neill CA. et al. Congenitally unguarded tricuspid orifice: its differentiation from Ebstein’s malformation in association with pulmonary atresia and intact ventricular septum. Teratology 1994; 50: 137-147
  • 8 Zuberbuhler JR, Allwork SP, Anderson RH. The spectrum of Ebstein’s anomaly of the tricuspid valve. J. Thorac. Cardiovasc. Surg 1979; 77: 202-211
  • 9 Shinkawa T, Polimenakos AC, Gomez-Fifer CA. et al. Management and long-term outcome of neonatal Ebstein anomaly. J. Thorac. Cardiovasc. Surg. [Internet] 2010; 139: 354-358 Available from: http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=19775704&retmode=ref&cmd=prlinks
  • 10 Oberhoffer R, Cook AC, Lang D. et al. Correlation between echocardiographic and morphological investigations of lesions of the tricuspid valve diagnosed during fetal life. Br Heart J 1992; 68: 580-585
  • 11 Paranon S, Acar P. Ebstein’s anomaly of the tricuspid valve: from fetus to adult: congenital heart disease. Heart 2008; 94: 237-243
  • 12 Delhaas T, Marchie Sarvaas du GJ, Rijlaarsdam ME. et al. A Multicenter, Long-Term Study on Arrhythmias in Children with Ebstein Anomaly. Pediatr Cardiol 2009; 31: 229-233
  • 13 Yu JJ, Yun TJ, Won HS. et al. Outcome of Neonates with Ebstein’Anomaly in the Current Era. Pediatr Cardiol 2013; 34: 1590-1596
  • 14 McElhinney DB, Salvin JW, Colan SD. et al. Improving outcomes in fetuses and neonates with congenital displacement (Ebstein’s malformation) or dysplasia of the tricuspid valve. Am. J. Cardiol 2005; 96: 582-586
  • 15 Andrews RE, Tibby SM, Sharland GK. et al. Prediction of outcome of tricuspid valve malformations diagnosed during fetal life. Am. J. Cardiol 2008; 101: 1046-1050
  • 16 Celermajer DS, Bull C, Till JA. et al. Ebstein’s anomaly: presentation and outcome from fetus to adult. J. Am. Coll. Cardiol 1994; 23: 170-176
  • 17 Yagel S, Cohen SM, Achiron R. Examination of the fetal heart by five short-axis views: a proposed screening method for comprehensive cardiac evaluation. Ultrasound Obstet Gynecol 2001; 17: 367-369
  • 18 Carvalho JS, Ho SY, Shinebourne EA. Sequential segmental analysis in complex fetal cardiac abnormalities: a logical approach to diagnosis. Ultrasound Obstet Gynecol 2005; 26: 105-111
  • 19 Jordaan HV. Cardiac size during prenatal development. Obstet Gynecol 1987; 69: 854-858
  • 20 Celermajer DS, Cullen S, Sullivan ID. et al. Outcome in neonates with Ebstein’s anomaly. J. Am. Coll. Cardiol 1992; 19: 1041-1046
  • 21 Abramian A, Gembruch U, Geipel A. et al. Ebstein’s anomaly of the tricuspid valve in association with tetralogy of fallot and absent pulmonary valve syndrome. Fetal. Diagn. Ther 2011; 30: 153-156
  • 22 Berg C, Kremer C, Geipel A. et al. Ductus venosus blood flow alterations in fetuses with obstructive lesions of the right heart. Ultrasound Obstet Gynecol 2006; 28: 137-142
  • 23 Pavlova M, Fouron JC, Drblik SP. et al. Factors affecting the prognosis of Ebstein’s anomaly during fetal life. Am. Heart J 1998; 135: 1081-1085
  • 24 Barre E, Durand I, Hazelzet T. et al. Ebstein’s Anomaly and Tricuspid Valve Dysplasia: Prognosis After Diagnosis In Utero. Pediatr Cardiol 2012; 33: 1391-1396
  • 25 Ishii T, Tworetzky W, Harrild DM. et al. Left ventricular function and geometry in fetuses with severe tricuspid regurgitation. Ultrasound Obstet Gynecol 2012; 40: 55-61
  • 26 Inamura N, Taketazu M, Smallhorn JF. et al. Left ventricular myocardial performance in the fetus with severe tricuspid valve disease and tricuspid insufficiency. Am J Perinatol 2005; 22: 91-97
  • 27 Hidaka N, Sugitani M, Fujita Y. et al. Preload index of the inferior vena cava as a possible predictive marker of hydropic changes in fetuses with Ebstein anomaly. J Ultrasound Med 2009; 28: 1369-1374