Ebstein anomaly and tricuspid valve disease — structured clinical encounter

Structured encounter testing the approach to a two-day-old cyanosed neonate with a massively enlarged heart, a loud tricuspid regurgitant murmur and functional pulmonary atresia: the prostaglandin-E1-first resuscitation rule, the echocardiographic grading with the GOSE score, the cone-versus-Starnes surgical decision, the arrhythmia and paradoxical-embolism counselling, and the transition to lifelong adult congenital heart disease surveillance.

structured clinical encounter

Prompt

A two-day-old term female infant, born at a regional hospital after an uncomplicated pregnancy, is transferred to the tertiary emergency department with deep central cyanosis that does not improve with supplemental oxygen. She is tachypnoeic with a respiratory rate of seventy, a heart rate of one hundred and seventy, and a capillary refill of four seconds. The precordium is hyperdynamic, and a loud scratching pansystolic murmur is audible at the lower left sternal edge with widely split heart sounds. The liver is palpable four centimetres below the costal margin. Pre-ductal and post-ductal saturations are both around sixty-two percent. The blood gas shows a pH of 7.18, a base excess of minus eight and a lactate of 5.5 mmol per litre. The chest X-ray shows a massively enlarged heart with diminished pulmonary vascular markings. Severe Ebstein anomaly with functional pulmonary atresia is the working diagnosis. You are the paediatric registrar working through the case.

Encounter structure

The candidate works through the case in five phases: [3]

Recognition (5 minutes): Identify the cyanosed neonate with a wall-to-wall heart whose oxygen saturation does not improve with oxygen; distinguish severe Ebstein anomaly with functional pulmonary atresia from pulmonary atresia with intact septum, transposition and neonatal sepsis. [5]
Immediate resuscitation (5 minutes): Start prostaglandin E1 at 0.01 to 0.05 micrograms per kilogram per minute to keep the duct open while the pulmonary vascular resistance falls; anticipate apnoea and prepare to intubate; correct the metabolic acidosis and arrange transfer to a cardiac centre with the baby intubated. [3]
Investigation and severity grading (5 minutes): Confirm the anatomy on echocardiography — apical tricuspid-valve displacement, tethered septal and posterior leaflets, a sail-like anterior leaflet, the size and function of the functional right ventricle, the right-to-left atrial shunt — and grade the neonatal severity with the GOSE score. [10]
The family conversation (5 minutes): Explain the failed-delamination mechanism in plain language; describe the immediate plan and the surgical decision between biventricular cone repair and the Starnes single-ventricle pathway; give honest reassurance about modern surgical outcomes while acknowledging the severity. [2]
Lifelong planning (5 minutes): Outline the surveillance for recurrent tricuspid regurgitation, right-ventricular function, arrhythmia and sudden death; counsel on the right-to-left atrial shunt and the need for air filters and against decompression diving; describe the transition to adult congenital heart disease services. [7]

References

[1]Ramcharan TKW; Goff DA; Greenleaf CE; et al Ebstein's Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care. Pediatr Cardiol, 2022.PMID 35460366
[2]Pasqualin G; Boccellino A; Chessa M; et al Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy. Heart, 2024.PMID 37487694
[3]Konstantinov IE; Chai P; Bacha E; et al The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly. J Thorac Cardiovasc Surg, 2024.PMID 38685467
[4]Holst KA; Connolly HM; Dearani JA Ebstein's Anomaly. Methodist Debakey Cardiovasc J, 2019.PMID 31384377
[5]Galea J; Ellul S; Schembri A; et al Ebstein anomaly: a review. Neonatal Netw, 2014.PMID 25161135
[6]Burri M; Mrad Agua K; Cleuziou J; et al Cone versus conventional repair for Ebstein's anomaly. J Thorac Cardiovasc Surg, 2020.PMID 32711971
[7]Neumann S; Rüffer A; Sachweh J; et al Narrative review of Ebstein's anomaly beyond childhood: Imaging, surgery, and future perspectives. Cardiovasc Diagn Ther, 2021.PMID 35070800
[8]da Silva JP; Baumgratz JF; da Fonseca L; et al The cone reconstruction of the tricuspid valve in Ebstein's anomaly. The operation: early and midterm results. J Thorac Cardiovasc Surg, 2007.PMID 17198815
[9]Delhaas T; Sarvaas GJ; Rijlaarsdam ME; et al A multicenter, long-term study on arrhythmias in children with Ebstein anomaly. Pediatr Cardiol, 2010.PMID 19937010
[10]Yu JJ; Yun TJ; Won HS; et al Outcome of neonates with Ebstein's anomaly in the current era. Pediatr Cardiol, 2013.PMID 23494543
[11]Thareja SK; Frommelt MA; Lincoln J; et al A Systematic Review of Ebstein's Anomaly with Left Ventricular Noncompaction. J Cardiovasc Dev Dis, 2022.PMID 35448091
[12]Kumar SR; Kung G; Noh N; et al Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. Circulation, 2016.PMID 27777295

Ebstein anomaly and tricuspid valve disease — structured clinical encounter

structured clinical encounter

References

[1]Ramcharan TKW; Goff DA; Greenleaf CE; et al Ebstein's Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care. Pediatr Cardiol, 2022.PMID 35460366

[2]Pasqualin G; Boccellino A; Chessa M; et al Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy. Heart, 2024.PMID 37487694

[3]Konstantinov IE; Chai P; Bacha E; et al The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly. J Thorac Cardiovasc Surg, 2024.PMID 38685467

[4]Holst KA; Connolly HM; Dearani JA Ebstein's Anomaly. Methodist Debakey Cardiovasc J, 2019.PMID 31384377

[5]Galea J; Ellul S; Schembri A; et al Ebstein anomaly: a review. Neonatal Netw, 2014.PMID 25161135

[6]Burri M; Mrad Agua K; Cleuziou J; et al Cone versus conventional repair for Ebstein's anomaly. J Thorac Cardiovasc Surg, 2020.PMID 32711971

[7]Neumann S; Rüffer A; Sachweh J; et al Narrative review of Ebstein's anomaly beyond childhood: Imaging, surgery, and future perspectives. Cardiovasc Diagn Ther, 2021.PMID 35070800

[8]da Silva JP; Baumgratz JF; da Fonseca L; et al The cone reconstruction of the tricuspid valve in Ebstein's anomaly. The operation: early and midterm results. J Thorac Cardiovasc Surg, 2007.PMID 17198815

[9]Delhaas T; Sarvaas GJ; Rijlaarsdam ME; et al A multicenter, long-term study on arrhythmias in children with Ebstein anomaly. Pediatr Cardiol, 2010.PMID 19937010

[10]Yu JJ; Yun TJ; Won HS; et al Outcome of neonates with Ebstein's anomaly in the current era. Pediatr Cardiol, 2013.PMID 23494543

[11]Thareja SK; Frommelt MA; Lincoln J; et al A Systematic Review of Ebstein's Anomaly with Left Ventricular Noncompaction. J Cardiovasc Dev Dis, 2022.PMID 35448091

[12]Kumar SR; Kung G; Noh N; et al Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. Circulation, 2016.PMID 27777295