1. Ebstein’s anomaly Polina Petrovic July 2007

2. Definition Congenital cardiac malformation characterized by apical displacement of septal and posterior tricuspid valve leaflets Congenital cardiac malformation characterized by apical displacement of septal and posterior tricuspid valve leaflets Anterior leaflet is normal because formed earlier in cardiac development Anterior leaflet is normal because formed earlier in cardiac development Resulting in atrialization of RV with small functional right ventricle Resulting in atrialization of RV with small functional right ventricle Associated with intracardiac shunts (ASD (50%), PFO), valvular lesions, and 25% accessory conduction pathways (WPW). Associated with intracardiac shunts (ASD (50%), PFO), valvular lesions, and 25% accessory conduction pathways (WPW).

3. http://www.mayoclinic.org/ebsteins-anomaly/abnormalities.html

4. Apical displacement of the septal and posterior leaflets of the tricuspid valve (arrowhead) from the atrioventricular junction (arrows). Dilated right atrium (RA), atrialized right ventricle (ARV), and functional right ventricle (FRV). http://radiographics.rsnajnls.org/content/vol23/issue90001/images/large/g03oc03g20x.jpeg

5. Associated anomalies Intracardiac shunts – 50% ASD Intracardiac shunts – 50% ASD Accessory conduction pathways (WPW) – 25% Accessory conduction pathways (WPW) – 25% Think of Ebstein’s when: Cyanotic congenital heart disease Cyanotic congenital heart disease Severe RHF Severe RHF Isolated severe TR Isolated severe TR L-transposition of great vessels L-transposition of great vessels VSD VSD Pulmonary stenosis or atresia with intact ventricular septum Pulmonary stenosis or atresia with intact ventricular septum

6. Consequence Malformation of tricuspid valve cause TR of variable severity Malformation of tricuspid valve cause TR of variable severity Discordant contraction of atrialized RV – which contracts with remainder of ventricle accentuating TR Discordant contraction of atrialized RV – which contracts with remainder of ventricle accentuating TR Can lead to right heart dysfunction/failure. Can lead to right heart dysfunction/failure.

7. Leftward bowing of septum during systole due to increased RV pressure http://radiology.rsnajnls.org/cgi/content/full/231/3/747/F3B?ck=nck

8. Epidemiology Incidence 0.5-0.7% in patients with congenital heart disease, but likely higher Incidence 0.5-0.7% in patients with congenital heart disease, but likely higher Associations – children of Caucasian females, maternal Lithium in first trimester Associations – children of Caucasian females, maternal Lithium in first trimester Less well documented associations – maternal benzodiazepine use, exposure to varnishing substances, previous fetal loss Less well documented associations – maternal benzodiazepine use, exposure to varnishing substances, previous fetal loss Also associated with Turner’s, Down’s, and Marfan’s Also associated with Turner’s, Down’s, and Marfan’s

9. Disease course Approximately 50% present with cyanosis and RHF in infancy Approximately 50% present with cyanosis and RHF in infancy Remaining 50% have murmur and abnormal CXR but initially asymptomatic Remaining 50% have murmur and abnormal CXR but initially asymptomatic Become symptomatic later in life Become symptomatic later in life 50 % survival at age 47 50 % survival at age 47

10. Disease course post infancy Common presenting symptoms: Dyspnea on exertion Dyspnea on exertion Palpitations from SVT 20-30% Palpitations from SVT 20-30% Right heart failure Right heart failure Cyanosis, ventricular arrhythmias Cyanosis, ventricular arrhythmias Uncommon presenting symptoms: Brain abscess from R  L shunt Brain abscess from R  L shunt Bacterial endocarditis Bacterial endocarditis Paradoxical emboli, stroke, TIA Paradoxical emboli, stroke, TIA

11. Management - Medical For perinatal cyanosis – wait For perinatal cyanosis – wait If severe, PGE for duct patency and Nitrous Oxide to lower pulmonary vascular resistance If severe, PGE for duct patency and Nitrous Oxide to lower pulmonary vascular resistance Persistent cyanosis in >1wk old suggests additional pulmonary stenosis or atresia Persistent cyanosis in >1wk old suggests additional pulmonary stenosis or atresia Arrhythmias: usually treated with ablation Arrhythmias: usually treated with ablation RHF in older children can be treated with digoxin or diuretics but it is usually indication for surgical intervention RHF in older children can be treated with digoxin or diuretics but it is usually indication for surgical intervention

12. Management – Surgical Wait till pulmonary vascular resistance decreases Wait till pulmonary vascular resistance decreases If continuing cyanosis (O2 < 75%) treatment with Blalock-Taussig shunt (PA to Subclavian artery) If continuing cyanosis (O2 < 75%) treatment with Blalock-Taussig shunt (PA to Subclavian artery) If hypoxemia still problem If hypoxemia still problem Glenn anastamosis – SVC to R pulmonary artery Glenn anastamosis – SVC to R pulmonary artery Fontan – oversew TV and close PFO so all systemic venous return goes to pulmonary arteries and bypasses right heart Fontan – oversew TV and close PFO so all systemic venous return goes to pulmonary arteries and bypasses right heart Tricuspid valve reconstruction/prosthesis – most common. Tricuspid valve reconstruction/prosthesis – most common.

13. http://images.healthcentersonline.com/heart/images/article/FontanStages5(yippee).jpg

14. DDx Uhl anomaly – hypoplastic, underdeveloped inflow segment of right ventricle with tricuspid leaflets arising from annulus Uhl anomaly – hypoplastic, underdeveloped inflow segment of right ventricle with tricuspid leaflets arising from annulus

15. Imaging Findings CXR findings - Normal - Cardiomegaly - Small aortic root and MPA shadow - Decreased pulmonary vasculature - Large RA CT and MR findings

16. Right sided enlargement and normal pulmonary vasculature

17. Bibliography Am. J. Roentgenol. DEUTSCH et al. 125 (2): 395. Am. J. Roentgenol. DEUTSCH et al. 125 (2): 395. http://www.emedicine.com/med/topic627.htm http://www.emedicine.com/med/topic627.htm http://www.emedicine.com/med/topic627.htm http://www.emedicine.com/radio/topic228.htm http://www.emedicine.com/radio/topic228.htm http://www.emedicine.com/radio/topic228.htm The Heart. 10 th ed. Fuster V, Alexander R, O’Rourke R. McGraw Hill 2001. 1878-1880 The Heart. 10 th ed. Fuster V, Alexander R, O’Rourke R. McGraw Hill 2001. 1878-1880 Cardiac Imaging in Infants, Children, and Adults. Elliot, L. JB Lippincott Company 1991. 735-742 Cardiac Imaging in Infants, Children, and Adults. Elliot, L. JB Lippincott Company 1991. 735-742 http://content.onlinejacc.org/cgi/content/abstract/ 23/5/1194 http://content.onlinejacc.org/cgi/content/abstract/ 23/5/1194