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Ebstein’s Anomaly: From Fetus to Adult—Literature Review and Pathway for Patient Care

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Abstract

Ebstein’s anomaly, first described in 1866 by Dr William Ebstein, accounts for 0.3–0.5% of congenital heart defects and represents 40% of congenital tricuspid valve abnormalities. Ebstein’s anomaly affects the development of the tricuspid valve with widely varying morphology and, therefore, clinical presentation. Associated congenital cardiac lesions tend to be found more often in younger patients and may even be the reason for presentation. Presentation can vary from the most extreme form in fetal life, to asymptomatic diagnosis late in adult life. The most symptomatic patients need intensive care support in the neonatal period. This article summarizes and analyzes the literature on Ebstein’s anomaly and provides a framework for the investigation, management, and follow-up of these patients, whether they present via fetal detection or late in adult life. For each age group, the clinical presentation, required diagnostic investigations, natural history, and management are described. The surgical options available for patients with Ebstein’s anomaly are detailed and analyzed, starting from the initial mono-leaflet repairs to the most recent cone repair and its modifications. The review also assesses the effects of pregnancy on the Ebstein’s circulation, and vice versa, the effects of Ebstein’s on pregnancy outcomes. Finally, two attached appendices are provided for a structured echocardiogram protocol and key information useful for comprehensive Multi-Disciplinary Team discussion.

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References

  1. Ebstein W (1866) Über einen sehr seltenen Fall von Insuffizienz der Valvula tricuspidalis: bedingt durch eine angeborene hochgradige Missbildung derselben. Arch Anat Physiol Wissenchaft Med 33:238–254

    Google Scholar 

  2. Lamers WH, Virágh S, Wessels A, Moorman AFM, Anderson RH (1995) Formation of the tricuspid valve in the human heart. Circulation 91(1):111–121

    Article  CAS  PubMed  Google Scholar 

  3. Anderson RH, Baker EJ, Penny DJ, Redington AN, Rigby ML, Wernovsky G (2010) Paediatric cardiology, 3rd edn. Churchill Livingstone Elsevier, London

    Google Scholar 

  4. Park MK (2015) Park: pediatric cardiology for practitioners, 5th edn. Elsevier, Philadelphia

    Google Scholar 

  5. Perloff JK (2003) The clinical recognition of congenital heart disease, 5th edn. Saunders, Philadelphia

    Google Scholar 

  6. Rudolph AM (2009) Congenital diseases of the heart: clinical-physiological considerations, 3rd edn. Wiley, Chichester

    Book  Google Scholar 

  7. Jost CHA, Connolly HM, Dearani JA, Edwards WD, Danielson GK (2007) Ebstein’s anomaly. Circulation 115(2):277–285

    Article  Google Scholar 

  8. Wren C (2012) Concise guide to pediatric arrhythmias, 1st edn. Wiley, Hoboken

    Google Scholar 

  9. Attenhofer Jost CH, Tan NY, Hassan A, Vargas ER, Hodge DO, Dearani JA, Connolly H, Asirvatham SJ, McLeod CJ (2018) Sudden death in patients with Ebstein anomaly. Eur Heart J 39(21):1970–1977

    Article  PubMed  Google Scholar 

  10. Gentles TL, Calder AL, Clarkson PM, Neutze JM (1992) Predictors of long-term survival with Ebstein’s anomaly of the tricuspid valve. Am J Cardiol 69(4):377–381

    Article  CAS  PubMed  Google Scholar 

  11. Waldmann V, Khairy P (2018) Ventricular arrhythmias and sudden death in patients with Ebstein anomaly: insights from a retrospective cohort study. J Thorac Dis 10(Suppl 18):S2172–S2175

    Article  PubMed  PubMed Central  Google Scholar 

  12. Yuan SM (2017) Ebstein’s anomaly: genetics, clinical manifestations, and management. Pediatr Neonatol 58(3):211–215

    Article  PubMed  Google Scholar 

  13. Rakhmanov Y, Maltese PE, Bruson A, Beccari T, Dundar M, Bertelli M (2018) Genetic testing for Ebstein anomaly. EuroBiotech J 2(s1):55–57

    Article  Google Scholar 

  14. van Engelen K, Postma Av, van de Meerakker JBA, Roos-Hesselink JW, Helderman-Van den Enden ATJM, Vliegen HW, Rahman T, Baars MJH, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AFM, Keavney B, Goodship J, Klaassen S, Mulder BJM (2013) Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7. Neth Heart J 21(3):113–117

    Article  PubMed  Google Scholar 

  15. Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad A, Cuneo BF, Huhta JC, Jonas RA, Krishnan A, Lacey S, Lee W, Michelfelder EC, Rempel GR, Silverman NH, Spray TL, Strasburger JF, Tworetzky W, Rychik J (2014) Diagnosis and treatment of fetal cardiac disease: a scientific statement from the american heart association. Circulation 129(21):2183–2242

    Article  PubMed  Google Scholar 

  16. Johnson P, Maxwell DJ, Tynan MJ, Allan LD (2000) Intracardiac pressures in the human fetus. Heart 84(1):59–63

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Freire G, Nguyen T, Sekar P, Wilhm M, Arnold K, Leshko J, Amankwah EK, Huhta J (2014) Impact of prenatal haemodynamic and functional abnormalities in Ebstein’s anomaly on survival. Cardiol Young 24(6):1049–1056

    Article  PubMed  Google Scholar 

  18. Freud LR, Escobar-Diaz MC, Kalish BT, Komarlu R, Puchalski MD, Jaeggi ET, Szwast AL, Freire G, Levasseur SM, Kavanaugh-Mchugh A, Michelfelder EC, Moon-Grady AJ, Donofrio MT, Howley LW, Tierney ESS, 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, McElhinney DB, Tworetzky W (2015) Outcomes and predictors of perinatal mortality in fetuses with Ebstein anomaly or tricuspid valve dysplasia in the current era: a multicenter study. Circulation 132(6):481–489

    Article  PubMed  PubMed Central  Google Scholar 

  19. Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP, Sullivan ID, Allan L, Nihoyannopoulos P, Somerville J, Deanfield JE (1994) Ebstein’s anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol 23(1):170–176

    Article  CAS  PubMed  Google Scholar 

  20. Engel MS, Kochilas LK (2016) Pulse oximetry screening: a review of diagnosing critical congenital heart disease in newborns. Med Devices 9:199–203

    Article  Google Scholar 

  21. McElhinney DB, Salvin JW, Colan SD, Thiagarajan R, Crawford EC, Marcus EN, del Nido PJ, Tworetzky W (2005) Improving outcomes in fetuses and neonates with congenital displacement (Ebstein’s malformation) or dysplasia of the tricuspid valve. Am J Cardiol 96(4):582–586

    Article  PubMed  Google Scholar 

  22. Schultz K, Haeffele CL (2020) Heart failure in the adult Ebstein patient. Heart Fail Rev 25(4):623–632

    Article  PubMed  Google Scholar 

  23. Masoller N, Gómez Del Rincón O, Herraiz I, Gómez-Montes E, Soveral I, Pérez-Cruz M, Martínez-Biosques C, Granados MA, Bennasar M, Escobar-Diaz MC, Martínez JM, Galindo A (2020) Prediction of perinatal mortality in Ebstein’s anomaly diagnosed in the second trimester of pregnancy. Fetal Diagn Ther 47(8):604–614

    Article  PubMed  Google Scholar 

  24. Andrews RE, Tibby SM, Sharland GK, Simpson JM (2008) Prediction of outcome of tricuspid valve malformations diagnosed during fetal life. Am J Cardiol 101(7):1046–1050

    Article  PubMed  Google Scholar 

  25. Torigoe F, Ishida H, Ishii Y, Ishii R, Narita J, Kawazu Y, Kayatani F, Inamura N (2020) Fetal echocardiographic prediction score for perinatal mortality in tricuspid valve dysplasia and Ebstein’s anomaly. Ultrasound Obstet Gynecol 55(2):226–232

    Article  CAS  PubMed  Google Scholar 

  26. Obgyn Key. Ebstein Anomaly, Tricuspid Valve Dysplasia, and Tricuspid Regurgitation. https://obgynkey.com/ebstein-anomaly-tricuspid-valve-dysplasia-and-tricuspid-regurgitation/

  27. Oechslin E, Buchholz S, Jenni R (2000) Ebstein s anomaly in adults : doppler-echocardiographic evaluation. Thorac Cardiov Surg 48:209–213

    Article  CAS  PubMed  Google Scholar 

  28. Radford DJ, Graff RF, Neilson GH (1985) Diagnosis and natural history of Ebstein’s anomaly. Br Heart J 54:517–522

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Carpentier A, Chauvaud S, Mace L, Relland J, Mihaileanu S, Marino JP, Abry B, Guibourt P (1988) A new reconstructive operation for Ebstein’s anomaly of the tricuspid valve. J Thorac Cardiovasc Surg 96(1):92–101

    Article  CAS  PubMed  Google Scholar 

  30. Lianza AC, Rodrigues ACT, Mercer-Rosa L, Vieira MLC, de Oliveira WAA, Afonso TR, Nomura CH, da Silva JP, da Silva LDF, Szarf G, Tavares GMP, Fischer CH, Morhy SS (2020) Right ventricular systolic function after the cone procedure for Ebstein’s anomaly: comparison between echocardiography and cardiac magnetic resonance. Pediatr Cardiol 41(5):985–995

    Article  PubMed  Google Scholar 

  31. Fratz S, Chung T, Greil GF, Samyn MM, Taylor AM, Valsangiacomo Buechel ER, Yoo SJ, Powell AJ (2013) Guidelines and protocols for cardiovascular magnetic resonance in children and adults with congenital heart disease: SCMR expert consensus. J Cardiovasc Magn Resonance 15(1):1

    Article  Google Scholar 

  32. Qureshi MY, O’Leary PW, Connolly HM (2018) Cardiac imaging in Ebstein anomaly. Trends Cardiovasc Med 28(6):403–409

    Article  PubMed  Google Scholar 

  33. Wackel P, Cannon B, Dearani J, Sessions K, Holst K, Johnson J, Cetta F (2018) Arrhythmia after cone repair for Ebstein anomaly: the mayo clinic experience in 143 young patients. Congenit Heart Dis 13(1):26–30

    Article  PubMed  Google Scholar 

  34. Shivapour JKL, Sherwin ED, Alexander ME, Cecchin F, Mah DY, Triedman JK, Marx GR, del Nido PJ, Walsh EP (2014) Utility of preoperative electrophysiologic studies in patients with Ebstein’s anomaly undergoing the cone procedure. Heart Rhythm 11(2):182–186

    Article  PubMed  Google Scholar 

  35. Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, Crumb SR, Dearani JA, Fuller S, Gurvitz M, Khairy P, Landzberg MJ, Saidi A, Valente AM, Van Hare GF (2018) AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American college of cardiology/American heart association task force on clinical practice guidelines. J Am Coll Cardiol 73(12):e81–e192. https://doi.org/10.1016/j.jacc.2018.08.1029. Erratum in: J Am Coll Cardiol. 2019 May 14;73(18):2361–2362

  36. Torigoe T, Mawad W, Seed M, Ryan G, Marini D, Golding F (2019) Treatment of fetal circular shunt with non-steroidal anti-inflammatory drugs. Ultrasound Obstet Gynecol 53(October 2018):841–846

    Article  CAS  PubMed  Google Scholar 

  37. Arunamata A, Axelrod DM, Bianco K, Balasubramanian S, Quirin A, Tacy TA (2017) Chronic antepartum maternal hyperoxygenation in a case of severe fetal Ebstein ’s anomaly with circular shunt physiology. Ann Pediatr Cardiol 10:284

    Article  PubMed  PubMed Central  Google Scholar 

  38. Knott-Craig CJ, Overholt ED, Ward KE, Ringewald JM, Baker SS, Razook JD (2002) Repair of Ebstein’s anomaly in the symptomatic neonate: an evolution of technique with 7-year follow-up. Ann Thorac Surg 73(6):1786–1793

    Article  PubMed  Google Scholar 

  39. Santoro G, Gaio G, Palladino MT, Carrozza M, Iacono C, Russo MG, Caianiello G, Calabrò R (2008) Transcatheter ductal stenting in critical neonatal Ebstein’s anomaly. J Cardiovasc Med 9(4):419–422

    Article  Google Scholar 

  40. Knott-Craig CJ, Goldberg SP, Ballweg JA, Boston US (2012) Surgical decision making in neonatal Ebstein’s anomaly: an algorithmic approach based on 48 consecutive neonates. World J Pediatr Congenit Heart Surg 3(1):16–20

    Article  PubMed  Google Scholar 

  41. Holst KA, Dearani JA, Said S, Pike RB, Connolly HM, Cannon BC, Sessions KL, O’Byrne MM, O’Leary PW (2018) Improving results of surgery for Ebstein anomaly: where are we after 235 cone repairs? Ann Thorac Surg 105(1):160–168

    Article  PubMed  Google Scholar 

  42. Davies RR, Pasquali SK, Jacobs ML, Jacobs JJ, Wallace AS, Pizarro C (2013) Current spectrum of surgical procedures performed for Ebstein’s malformation: an analysis of the society of thoracic surgeons congenital heart surgery database. Ann Thorac Surg 96(5):1703–1710

    Article  PubMed  PubMed Central  Google Scholar 

  43. Taggart NW, Cabalka AK, Eicken A, Aboulhosn JA, Thomson JDR, Whisenant B, Bocks ML, Schubert S, Jones TK, Asnes JD, Fagan TE, Meadows J, Hoyer M, Martin MH, Ing FF, Turner DR, Latib A, Tzifa A, Windecker S, Goldstein BH, Delaney JW, Kuo JA, Foerster S, Gillespie M, Butera G, Shahanavaz S, Horlick E, Boudjemline Y, Dvir D, McElhinney DB (2018) Outcomes of transcatheter tricuspid valve-in-valve implantation in patients with Ebstein anomaly. Am J Cardiol 121(2):262–268

    Article  PubMed  Google Scholar 

  44. Baumgartner H, Bonhoeffer P, De Groot NM, de Haan F, Deanfield JE, Galie N, Gatzoulis MA, Gohlke-Baerwolf C, Kaemmerer H, Kilner P, Meijboom F, Mulder BJ, Oechslin E, Oliver JM, Serraf A, Szatmari A, Thaulow E, Vouhe PR, Walma E (2010) Task force on the management of grown-up congenital heart disease of the European Society of Cardiology (ESC); Association for European Paediatric Cardiology (AEPC); ESC Committee for Practice Guidelines (CPG). ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 31(23):2915–2957. https://doi.org/10.1093/eurheartj/ehq249

  45. Sainathan S, Pedro J (2020) Ebstein ’ s anomaly: contemporary management strategies. J Thorac Dis 12(Iii):1161–1173

    Article  PubMed  PubMed Central  Google Scholar 

  46. da Silva JP, Baumgratz JF, da Fonseca L, Franchi SM, Lopes LM, Tavares GMP, Soares AM, Moreira LF, Barbero-Marcial M (2007) The cone reconstruction of the tricuspid valve in Ebstein’s anomaly. The operation: early and midterm results. J Thorac Cardiovasc Surg 133(1):215–223

    Article  PubMed  Google Scholar 

  47. Corno A, Schreiber C, Augustin N (2006) Ebstein’s anomaly. McGraw Hill Medical, New York

    Google Scholar 

  48. Boston US, Dearani JA, O’Leary PW, Driscoll DJ, Danielson GK (2006) Tricuspid valve repair for Ebstein’s anomaly in young children: a 30-year experience. Ann Thorac Surg 81(2):690–696

    Article  PubMed  Google Scholar 

  49. Corno AF, Chassot PG, Payot M, Sekarski N, Tozzi P, von Segesser LK (2002) Ebstein’s anomaly: one and a half ventricular repair. Swiss Med Wkly 132(33–34):485–488

    PubMed  Google Scholar 

  50. Quaegebeur JM, Sreeram N, Fraser AG, Bogers AJJC, Stümper OFW, Hess J, Bos E, Sutherland GR (1991) Surgery for Ebstein’s anomaly: the clinical and echocardiographic evaluation of a new technique. J Am Coll Cardiol 17(3):722–728

    Article  CAS  PubMed  Google Scholar 

  51. Bove EL, Hirsch JC, Ohye RG, Devaney EJ (2009) How I manage neonatal Ebstein’s anomaly. In: Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual. 12(1):63–65

  52. Burri M, Mrad Agua K, Cleuziou J, Beran E, Nagdyman N, Kühn A, Ziegelmueller JA, Ewert P, da Silva JP, Lange R (2020) Cone versus conventional repair for Ebstein’s anomaly. J Thorac Cardiovasc Surg 160(6):1545–1553

    Article  PubMed  Google Scholar 

  53. Dearani JA (2020) Ebstein repair: how I do it. JTCVS Tech 3(C):269–276

    Article  PubMed  PubMed Central  Google Scholar 

  54. Mitchell ME, Hraska V, Kouretas PC (2018) 360-Degree cone reconstruction for Ebstein’s anomaly. Ann Thorac Surg 106(3):e155–e158

    Article  PubMed  Google Scholar 

  55. Bakhshaliyev S, Özalp ZGK, Güneş M, Genç SB, Kamalı H, Şengül FS, Ergün S, Haydin S (2021) Surgical treatment of Ebstein anomaly in pediatric patients: a 10-year single-center study. J Card Surg 36(9):3138–3145

    Article  PubMed  Google Scholar 

  56. Schulz A, Marathe SP, Chávez M, Sleeper LA, Emani SM, Marx GR, del Nido PJ, Baird CW (2021) The association of age and repair modification with outcome after cone repair for Ebstein’s malformation. In: Seminars in Thoracic and Cardiovascular Surgery. 34:205–212

  57. Beroukhim RS, Jing L, Harrild DM, Fornwalt BK, Mejia-Spiegeler A, Rhodes J, Emani S, Powell AJ (2018) Impact of the cone operation on left ventricular size, function, and dyssynchrony in Ebstein anomaly: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson 20(1):1–8

    Article  Google Scholar 

  58. Perdreau E, Tsang V, Hughes ML, Ibrahim M, Kataria S, Janagarajan K, Iriart X, Khambadkone S, Marek J (2018) Change in biventricular function after cone reconstruction of Ebstein's anomaly: an echocardiographic study. Eur Heart J Cardiovasc Imaging 19(7):808–815. https://doi.org/10.1093/ehjci/jex186

  59. Neijenhuis RML, Tsang VT, Marek J, Issitt R, Bonello B, von Klemperer K, Hughes ML (2021) Cone reconstruction for Ebstein anomaly: late biventricular function and possible remodeling. J Thorac Cardiovasc Surg 161(3):1097–1108

    Article  PubMed  Google Scholar 

  60. Knott-Craig CJ, Overholt ED, Ward KE, Razook JD (2000) Neonatal repair of Ebstein’s anomaly: indications, surgical technique, and medium-term follow-up. Ann Thorac Surg 69(5):1505–1510

    Article  CAS  PubMed  Google Scholar 

  61. Dearani JA, Said SM, O’Leary PW, Burkhart HM, Barnes RD, Cetta F (2013) Anatomic repair of Ebstein’s malformation: lessons learned with cone reconstruction. Ann Thorac Surg 95(1):220–228

    Article  PubMed  Google Scholar 

  62. Stephens EH, Dearani JA (2021) Commentary: Ebstein anomaly—still so many unanswered questions. In: Seminars in Thoracic Cardiovascular Surgery. https://doi.org/10.1053/j.semtcvs.2021.04.028

  63. Yang Y, Zhang W, Liu Y, Li G, Zhang H, Fan X, Su J, Liu Y, Fan X (2021) Preoperative percutaneous oxygen saturation is a predictor of postoperative adverse events after Ebstein’s anomaly reconstruction. J Card Surg 36(3):1012–1017

    Article  PubMed  Google Scholar 

  64. Malhotra SP, Petrossian E, Reddy VM, Qiu M, Maeda K, Suleman S, MacDonald M, Reinhartz O, Hanley FL (2009) Selective right ventricular unloading and novel technical concepts in Ebstein’s anomaly. Ann Thorac Surg 88(6):1975–1981

    Article  PubMed  Google Scholar 

  65. Malhotra A, Agrawal V, Patel K, Shah M, Sharma K, Sharma P, Siddiqui S, Oswal N, Pandya H (2018) Ebstein’s anomaly: ‘the one and a half ventricle heart.’ Braz J Cardiovasc Surg 33(4):353–361

    Article  PubMed  PubMed Central  Google Scholar 

  66. Reemtsen BL, Starnes VA (2008) Fenestrated right ventricular exclusion (starnes’ procedure) for severe neonatal Ebstein’s anomaly. Oper Tech Thorac Cardiovasc Surg 13(2):91–100

    Article  Google Scholar 

  67. Connolly HM, Warnes CA (1994) Ebstein’s anomaly: outcome of pregnancy. J Am Coll Cardiol 23(5):1194–1198

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Cardiology, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

    Tristan K. W. Ramcharan

  2. McGovern Medical School, Children’s Heart Institute, University of Texas Health, Houston, TX, USA

    Donna A. Goff, Christopher E. Greenleaf, Jorge D. Salazar & Antonio F. Corno

  3. East Midlands Congenital Heart Centre, Glenfield Hospital, University Hospitals of Leicester, Leicester, UK

    Suhair O. Shebani

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  1. Tristan K. W. Ramcharan
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Appendices

Appendix 1: Trans-Thoracic Echocardiogram Protocol

  1. (a)

    General assessment:

    1. (i)

      Abdominal Situs

    2. (ii)

      Systemic veins

      1. (1)

        Single/Dual SVC and Bridging vein

      2. (2)

        Dual/interrupted IVC and Azygous continuation

    3. (iii)

      Distinguish left and right ventricle

    4. (iv)

      Assess Atrio-ventricular and Ventriculoarterial Concordance

    5. (v)

      Pulmonary veins and connection to left Atrium

    6. (vi)

      Atrial Communication size

    7. (vii)

      Ventricular communications

    8. (viii)

      Mitral Stenosis/regurgitation

      1. (1)

        Pulse-Wave (PW) doppler of mitral valve inflow for E/A ratio

      2. (2)

        Continuous-Wave (CW) doppler of Mitral Regurgitation for Dp/Dt

    9. (ix)

      LVOT:

      1. (1)

        PW and CW to look for laminar flow & the presence of AS/AR

      2. (2)

        Pressure half-time for AR and width of vena contracta and whether jet hits AMVL

    10. (x)

      RVOT:

      1. (1)

        PW and CW to look for laminar flow

      2. (2)

        PR and grade severity including flow reversal in PAs.

      3. (3)

        Maximum gradient at end of pulmonary regurgitation doppler gives indicator of diastolic PA pressure

    11. (xi)

      Branch Pulmonary Arteries:

      1. (1)

        Size and gradient in branch PAs

    12. (xii)

      Coronary artery origins/flow and branching

    13. (xiii)

      Aortic arch:

      1. (1)

        Presence of coarctation

      2. (2)

        Branching pattern and arch sidedness

  2. (b)

    Tricuspid valve leaflets:

    1. (i)

      Septal—Best seen on A4C

    2. (ii)

      Antero-Superior—Best Seen on A4C, PSAX, and PLAX from RV inflow view

    3. (iii)

      Inferior/Posterior/Mural—Best seen on PLAX from RV inflow view

    4. (iv)

      subcostal short axis and long axis demonstrate the anterior and septal leaflets well

    5. (v)

      Subcostal en-face view shows all three leaflets in one image.

  3. (c)

    TV vs MV

    1. (i)

      Apical displacement of the hinge point of the septal leaflet of the tricuspid valve

    2. (ii)

      Measure on Apical 4-chamber view

      1. (1)

        Look for Displacement index (Distance/BSAm2):

        1. (a)

          TV displaced toward apex by more than 8 mm/m2 from MV insertion.

  4. (d)

    Tricuspid valve key areas to look at

    1. (i)

      Morphology and movement of each leaflet

      1. (1)

        Hinge point and distal attachments

      2. (2)

        Freely moving vs restricted movement

      3. (3)

        Fenestrations in each leaflet

      4. (4)

        Mobility vs adherence of the antero-superior leaflet

    2. (ii)

      Tricuspid Valve Chordae

    3. (iii)

      Tricuspid Valve Papillary muscles

    4. (iv)

      Direct muscular insertions into the antero-superior leaflet

    5. (v)

      Competence and lack of coaptation of the tricuspid valve

    6. (vi)

      Size of tricuspid valve annulus and z-score (and compare to Mitral valve)

    7. (vii)

      Severity of TR as well as central/single vs multiple jets

    8. (viii)

      Presence of membrane above tricuspid valve

    9. (ix)

      Size of ASD

  5. (e)

    LV and RV functional assessment

  6. (f)

    Degree of RA and RV dilation

  7. (g)

    Degree of Pulmonary stenosis/functional atresia

  8. (h)

    Associated VSD

  9. (i)

    Color Doppler

    1. (i)

      Regurgitation: number of jets and grading of TR

      1. (1)

        Keep on low Nyquist to look for low-velocity jets

      2. (2)

        Look for jets from fenestrations in valve

  10. (j)

    CW Doppler:

    1. (i)

      Tricuspid valve regurgitation

    2. (ii)

      Estimated RVSP

  11. (k)

    Hepatic vein and IVC inflow

    1. (i)

      Look at flow profile with PW for estimation of RA pressure and severity of TR

  12. (l)

    Right Atrium

    1. (i)

      Apical 4 chamber just before TV Opens—measure RA major and minor length and RA area in 4 chamber

  13. (m)

    Atrialized Right Atrium

    1. (i)

      Area

  14. (n)

    Anatomic severity of Ebstein: GOS Eq. 8, 9

    1. (i)

      Calculation of chamber area ratio in apical 4 chamber at End-diastole

    2. (ii)

      (RA + Atrialized RV)/( RV + LA + LV)

    3. (iii)

      Four grades of increasing severity:

      1. (1)

        ratio < 0.5 = grade 1

      2. (2)

        ratio 0 0.5 to 0.99 = grade 2

      3. (3)

        ratio 1 to 1.49. = grade 3

      4. (4)

        ratio ≥ 1.5. = grade 4

    4. (iv)

      ≥ 1 Indicates poor prognosis

  15. (o)

    Atrial septum

    1. (i)

      PFO/ASD

    2. (ii)

      Direction of shunting on color Doppler

  16. (p)

    Ventricular volumes & function

    1. (i)

      RV:

      1. (1)

        RV FAC

      2. (2)

        RV Volumes

    2. (ii)

      LV:

      1. (1)

        MAPSE

      2. (2)

        Simpson’s Biplane

      3. (3)

        M-Mode

        1. (a)

          Look at relationship of ventricular septum during systole and diastole

      4. (4)

        LV volumes

  17. (q)

    Pulmonary valve

    1. (i)

      Pulmonary Stenosis or Atresia

    2. (ii)

      Functional vs True Atresia

    3. (iii)

      CW Doppler

      1. (1)

        PR Vendmax (estimation of PA diastolic pressure)

  18. (r)

    Pulmonary Arteries

    1. (i)

      Size including z-scores

  19. (s)

    Associated lesions

Appendix 2: Key Information for Multi-disciplinary Team Conference

Fetal

  1. (1)

    CT ratio

  2. (2)

    TV annulus size

  3. (3)

    Tricuspid regurgitation severity and jet velocity to estimate RV pressure

  4. (4)

    Pulmonary anterograde flow, ductal flow directionality, and pulmonary regurgitation severity

  5. (5)

    Atrial communication size

  6. (6)

    Cardiac function

  7. (7)

    Effusions and/or hydrops

  8. (8)

    Extracardiac

    1. (i)

      Doppler findings

    2. (ii)

      Lung volume assessment by U/s or fetal MRI

    3. (iii)

      Fetal growth restriction

Neonate

  1. (1)

    Whether antenatal diagnosis and any history of antenatal arrhythmia

  2. (2)

    Key information on condition at birth and need for respiratory/inotropic support

  3. (3)

    Need for PGE1

  4. (4)

    ECG and CXR

  5. (5)

    Detailed Trans-thoracic Echocardiogram

  6. (6)

    24-h tape to assess rhythm.

Infant

  1. (1)

    Whether antenatal diagnosis and any history of antenatal arrhythmia

  2. (2)

    Symptoms of heart failure

  3. (3)

    Presence of arrhythmia

  4. (4)

    Weight trend

  5. (5)

    ECG and CXR

  6. (6)

    Detailed Trans-thoracic Echocardiogram

  7. (7)

    24-h tape to assess rhythm.

Child

  1. (1)

    Mode of presentation

  2. (2)

    Symptoms of heart failure or cyanosis at rest

  3. (3)

    Cyanosis on exercise

  4. (4)

    ECG

  5. (5)

    Chest X-ray

  6. (6)

    Detailed Trans-thoracic Echocardiogram

  7. (7)

    24-h tape

  8. (8)

    CT Angiogram/Cardiac MRI if necessary

  9. (9)

    Exercise testing for older children

  10. (10)

    Associated arrhythmia and results of EP study if indicated

Adolescent/Adult

  1. (1)

    Mode of presentation

  2. (2)

    Whether symptomatic

  3. (3)

    Associated arrhythmia and history of anti-arrhythmic need

  4. (4)

    Cyanosis at rest or on exercise

  5. (5)

    ECG

  6. (6)

    Chest X-ray

  7. (7)

    Trans-Thoracic Echocardiogram

  8. (8)

    TEE results if indicated

  9. (9)

    24-h tape

  10. (10)

    Exercise testing

  11. (11)

    CT Angiogram/Cardiac MRI results if indicated

  12. (12)

    EP Study result if indicated

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Ramcharan, T.K.W., Goff, D.A., Greenleaf, C.E. et al. Ebstein’s Anomaly: From Fetus to Adult—Literature Review and Pathway for Patient Care. Pediatr Cardiol 43, 1409–1428 (2022). https://doi.org/10.1007/s00246-022-02908-x

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