1. Ebstein’s anomaly Stephanie Merhar January 21, 2011

2. Anatomy

3. Pathophysiology

4. Associated defects Commonly associated with: – ASD or PFO (90%) – VSD, AV canal defect – Pulmonary stenosis/atresia (20-25%) – Wolff-Parkinson-White Syndromes: – Down, Marfan, Noonan, Cornelia de Lange Maternal lithium ingestion?

5. Epidemiology Ebstein’s anomaly occurs in 0.3-0.8% of all congenital heart diseases 1 in 20,000-50,000 live births Equal male:female occurrence Mortality in children presenting in the neonatal period is 30-50% Mortality at all ages is 12.5%

6. Prenatal presentation Difficult to diagnose prenatally Fetal presentation is variable: possible features include cardiomegaly, RA enlargement, tricuspid regurgitation or dysplasia, arrhythmia, or fetal hydrops Prognosis for the fetus diagnosed in utero with significant tricuspid valve disease is very poor (20% survival) – Progressive right heart dilatation – Cardiac failure – Lung hypoplasia – Pulmonary stenosis/atresia

7. Neonatal presentation Congestive heart failure – Due to TR and RV dysfunction Cyanosis – Decreased pulmonary blood flow due to R  L shunt through ASD or PFO – Increased pulmonary vascular resistance in the neonatal period compounds this problem Murmur

8. CXR

9. EKG

10. Physical exam Heart sounds – First heart sound widely split with loud tricuspid component – Second heart sound usually is normal but may be widely split due to RBBB – Third and fourth heart sounds commonly present Murmurs – Holosystolic murmur of tricuspid regurgitation

11. Later presentation Cyanosis – Due to R  L shunt at atrial level Fatigue and dyspnea – Secondary to RV failure and decreased LV ejection fraction Palpitations and sudden cardiac death Incidental murmur Paradoxic embolism

12. Arrhythmias Due to right atrial enlargement and high prevalence of accessory pathways 30-50% have evidence of WPW secondary to the atrialized RV tissue Mapping and ablation are difficult – Atrial dilation disrupts anatomic landmarks – Accessory pathways are often multiple

13. Initial management Prostaglandin infusion? (see next slide) Placement of umbilical catheters Initiation of mechanical ventilation – Minimum possible mean airway pressure – Tidal volumes of 10-15 ml/kg to overcome atelectasis Management of pulmonary hypertension

14. Nitric oxide – Reduces afterload of right ventricle – Helps distinguish functional from actual pulmonary atresia Sedation Other pulmonary vasodilators?

15. PGEs – good or bad?

16. Definitely need to start PGEs if functional pulmonary atresia – Need some way to get blood to lungs if going through PA is not an option If patient gets worse on PGEs, discuss with cardiologist!

17. Usual postnatal evaluation Define anatomy with echocardiography – Nature of the RV outflow tract If pulmonary atresia/severe stenosis, likelihood of biventricular repair is very low – Great Ormond Street Ebstein (GOSE) score for severity Ratio of combined areas of true RA plus atrialized RV to the combined areas of the functional RV, LA, and LV

18. Echo

19. GOSE score GradeRatioMortality 1<0.58% 20.5-0.99 3 (acyanotic) 1-1.4910% (neonatal) 45% (later) 3 (cyanotic) 1-1.49100% 4>1.5100%

20. Surgical repair

21. Single ventricle repair

22. Transport issues Things to tell receiving cardiologist: – location of pulse ox (ideally pre and post), arterial blood gas, 4 point blood pressures, appearance of the CXR Main problem to anticipate on transport – Desaturation! – Manage these babies like other babies with pulmonary hypertension

23. References Aggarwal S, Chintala K, and R Humes. Sildenafil use in a symptomatic neonate with severe Ebstein’s anomaly. Am J Perinatol 2008; 25(2): 125-128. Brown ML and JA Dearani. Ebstein malformation of the tricuspid valve: current concepts in management and outcomes. Curr Treat Options in CV Med 2009; 11:396-402. Cherry C, Debord S, and N Moustapha-Nadler. Ebstein’s anomaly: a complex congenital heart defect. AORN Journal 2009; 89:1098-1111. Dearani JA, O’Leary PW, and GK Danielson. Surgical treatment of Ebstein’s malformation: state of the art in 2006. Cardiol Youn 2006; 16(12-20). Jaquiss RDB and M Imamura. Management of Ebstein’s anomaly and pure tricuspid insufficiency in the neonate. Semin Thorac Cardiovas Surg 2007;19:258-263. Knott-Craig CJ and SP Goldbert. Management of neonatal Ebstein’s anomaly. Semin Thorac CV Surg 2007; 10:112-116. Paranon S and P Acar. Ebstein’s anomaly of the tricuspid valve: from fetus to adult. Heart 2008; 94:237-243. Pashia SE. Ebstein’s anomaly. Neonatal Network 2007; 26:197-207.