Presentation on Ebstein's Anomaly A concise view.pptx

Ebsteins Anomaly

1. EBSTEIN’s ANOMAY DR. MD WAHAJ ALI

2. HISTORY 1866 – Dr. Wilhelm Ebstein (German Physician) described cardiac findings of 19 year old patient (Joseph Prescher ) who had died of cyanotic heart disease Ebstein W: Ueber einen sehr seltenen Fall von Insuffi cienz der Valvula tricuspidalis , bedingt durch eine angeborene hochgradige Missbildung derselben. Arch Anat Physiol 238–254, 1866.

3. HISTORY 1950 – Helen Taussig - First clinical syndrome analysis 1950’s – BT shunt for neonatal Ebstein ( functional tricuspid or pulmonary atresia) 1958 – Tricuspid valve reconstruction – Hunter & Lillehei – A ttempt to create competent valve by repositioning of displaced leaflet & excluding atrialised chamber ( 2 patients – both didn’t survive)

4. HISTORY Barnard (1963); Lillehei (1967) – Tricuspid valve replacement Danielson (1972); Carpenter (1988) – TV repair based on use of anterior leaflet Starnes (1991) – Single ventricle palliation of neonatal Ebstein Knott-Craig (1994) – Biventricular repair of neonatal Ebstein anomaly

5. Pathological anatomy Failure of delamination of the septal , inferior, & anterior leaflets of the TV with subsequent adherence of the leaflets to the underlying myocardium Apical displacement of the functional TV annulus ( Septal > Inferior > Anterior ) Dilation of the atrialised portion of the right ventricle ( RV ) Anterior leaflet fenestrations , redundancy or tethering Dilation of the true anatomic TV annulus Lamers WH, Viragh S, Wessels A, et al: Formation of the tricuspid valve in the human heart. Circulation 91:111–121, 1995.

6. Downward displacement

7. TRICUSPID VALVE Highly variable morphology Almost always incompetent Anterior leaflet may be large & fenestrated Chordae tendinea may be short & poorly formed Inferior & Septal leaflet may be redundant or absent due to failure of delamination Downward displacement of septal & posterior leaflet in relation to AML > 0.8mm/m 2

8. Right ventricle Divided into 2 regions Atrialised RV ( aRV ) – Functionally integrated with RA Thin walled & devoid of muscle tissue May be disproportionately dilated Funtional RV Apical & infundibular component may be thinner RV dilation (>2/3) Septum is deviated leftwards Circular RV & D-shaped LV

9. Associated cardiac defects Atrial septal defects - PFO or OS ASD (80-94 %) VSD +/- Pulmonary atresia RVOT obstruction – Structural (PS, PA, branch PA stenosis) PDA CoA Accessory conduction pathways – WPW (15-20%)

10. Associated cardiac defects Left sided lesions (Uncommon) Mitral valve prolapse Accessory mitral valve tissue Subaortic stenosis Bicuspid or atretic AoV Muscle bundles in LV cavity Congenitally corrected TGA (cc-TGA) Lack of atrialization of RV free wall

11. classofication CARPENTIER CLASSIFICATION (1988) Type A – Volume of true RV is adequate Type B – Large atrialized RV, anterior leaflet moves freely Type C – Severe restriction of anterior leaflet movement causing significant RVOTO Type D – Near complete atrialization Carpentier A, Chauvaud S, Mace L, et al: A new reconstructive operation for Ebstein’s anomaly of the tricuspid valve. J Thorac Cardiovasc Surg 96:92–101, 1988.

12. classification

13. Genetic factors Most cases are sporadic Cardiac transcription factor NKX2.5 mutations 10p13-p14 deletion 1p34.3-p36.11 deletion Mutation in gene MYH7 Benson DW, Silberbach GM, Kavanaugh -McHugh A, et al: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104:1567–1573, 1999 . Yatsenko SA, Yatsenko AN, Szigeti K, et al: Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet 66:128–136 , 2004 . Postma AV, van Engelen K, van de Meerakker J, et al: Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet 4:43–50, 2011.

14. pathophysiology Retard the forward flow of blood During atrial contraction, atrialized RV balloons out & decreases volume to be ejected During ventricular systole, atrialized RV contracts , impeding venous filling of RA PFO / ASD – Right to left shunt or bidirectional shunt Gross RA dilatation leading to further TV incompetence & further widening of interatrial communication Said SM, Dearani JA: Ebstein’s anomaly, congenital tricuspid valve regurgitation , and dysplasia. In Allen HD, Driscoll DJ, Shaddy RE, et al, editors: Moss and Adams’ heart disease in infants, children, and adolescents including the fetus and young adult, vol 39, ed 8, Philadelphia , 2013 , Lippincott Williams and Wilkins, Wolters Kluwer, pp 889–912 .

15. pathophysiology Atrial tachyarrhythmias due to atrial dilation Accessory conduction pthways (15%) – WPW syndrome Atrioventricular Nodal Reentrant Tachycardia (AVNRT) – 1-2% Ventricular arryhthmias – End stage heart failure Said SM, Dearani JA: Ebstein’s anomaly, congenital tricuspid valve regurgitation , and dysplasia. In Allen HD, Driscoll DJ, Shaddy RE, et al, editors: Moss and Adams’ heart disease in infants, children, and adolescents including the fetus and young adult, vol 39, ed 8, Philadelphia , 2013 , Lippincott Williams and Wilkins, Wolters Kluwer, pp 889–912 .

16. Clinical presentation Depending on age & anatomic severity Fetuses : Abnormal routine prenatal scan (86%) Neonates : Cyanosis (74%) Infants : heart failure (43%) Children : Incidental murmur (63%) Adolescents and adults: Arrhythmia (42%), decreased exercise tolerance, fatigue, or right-sided heart failure Celermajer DS, Bull C, Till JA, et al: Ebstein’s anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol 23:170–176 , 1994 .

17. Clinical presentation - symptoms Cyanosis and Heart Failure Secondary to significant tricuspid regurgitation Can appear soon after birth, because of high pulmonary vascular resistance Often improves as pulmonary vascular resistance decreases

18. Clinical presentation - symptoms Exertional Dyspnea , Fatigue, Cyanosis , & Palpitations Can occur at a later age Can recur and can be insidious in onset

19. Clinical presentation - symptoms Palpitations Secondary to atrial tachyarrhythmia (atrial flutter and fibrillation most common ) May be present in 20% - 30% of cases Some of these arrhythmias are due to WPW syndrome

20. Clinical presentation - symptoms Paradoxic Embolization In the presence of an interatrial communication, patients with Ebstein malformation are at risk for paradoxic embolization, brain abscesses, and sudden death

21. Physical examination Murmur & thrill Cyanosis Prominent “a” waves on JVP Hepatomegaly Palpable, prominent diffuse apical impulse Split heart sound

22. Diagnosis – chest radiograph Markedly enlarged cardiac silhouette CTR > 0.65 (Poor prognosis) RA enlargement

23. electrocardiography PR interval prolongation & tall P waves RBBB WPW preexcitation Supraventricular tachycardia Atrial flutter or fibrillation

24. electrocardiography Arrhythmogenic atrialized RV Deep Q waves in leads V1–4 & in inferior leads Complete heart block is rare, but first-degree heart block occurs in 42% of patients because of RA enlargement and the structural abnormalities of the atrioventricular (AV) conduction system

25. echocardiography Diagnostic test of choice Site & degree of TR & feasibility of repair Diagnose in utero – 18 weeks Can predict outcomes in neonates - RVOTO

26. echocardiography Apical displacement of septal leafet by atleast 8mm/m 2 body surface Atleast 3 accessory attachments of leaflet to ventricular wall Marked RA enlargement Atrialized RV The combined area of RA & atrialized RV is larger than the combined area of the functional RV, LA, & LV in the apical four-chamber view at end diastole , the risk of mortality is increased

27. echocardiography

28. Celermajer index score

29. Cardiac catheterization Rarely necessary Coronary angiography PA pressures - Usually normal RVEDP – Elevated RA pressure – Normal LV dysfunction – Suspicion of elevated LA pressure or elevated LVEDP

30. Cardiac mri Quantitative measurement of RA & RV size & systolic function Axial imaging provides most reliable volume of atrialized RV Detailed visualization of pathological anatomy (3D images) Technique for precise volumetric analysis of ventricular function and intracardiac blood flow, without any geometric assumptions CMR delayed contrast enhancement image is a potential tool to recognize areas of right ventricle dysplasia

31. Cardiac mri The following acquisitions were performed parallel to the long axis of the heart (horizontal and vertical long-axis planes) & perpendicular to it (short-axis planes ) Balanced SSFP ( b-SSFP= steady-state free precession) sequences using retrospective ECG gating & parallel imaging technique with an acceleration factor of two and reconstruction algorithm GRAPPA (generalized auto calibrating partially parallel acquisition ) Dark-blood techniques, being the single-shot inversion-recovery fast SE sequence with breath holding the most commonly used Phase contrast velocity map of the aorta and pulmonary arteries At last delayed contrast enhanced images performed ten minutes after injection of gadolinium-DTPA using a segmented inversion-recovery spoiled GRE sequence

32. Cardiac mri Findings Morphology Tricuspid valve Degree of apical displacement of postero-septal leaflet - the grade of leaflet tethering to the ventricular wall can be calculated according to their extension (modified Becker´s dysplasia classification): Grade I - Up to 25% of the distance from the atrioventricular junction to the apex, Grade II - From 25-50 % Grade III - More than 50% of the distance

33. Modified becker’s dysplastic classification

34. Natural history Survival was related to severity & presence of RV or LV dysfunction The estimated cumulative overall survival rates were 89%, 76%, 53%, & 41% at 1, 10, 15, and 20 years of follow-up, respectively

35. Natural history Predictors of cardiac-related death Cardiothoracic ratio of 0.65 or greater Increasing severity of TV displacement on echocardiography NYHA class III or IV Cyanosis Severe TR Younger age at diagnosis

36. management Neonates & Infants Children & Adults

37. Neonates & Infants Indications for Operation Congestive heart failure Profound cyanosis Three pathways Biventricular repair ( Knott – Craig approach) Single ventricular repair ( RV exclusion technique / Starnes approach) Cardiac Transplantation

38. Biventricular repair ( Knott - Craig approach) TV is repaired – Monocusp type of valve repair based on satisfactory antrior leaflet ASD is partially closed – Right to left shunting in early postoperative period RA reduction Delayed sternal closure Inhaled Nitric oxide Prophylactic Peritoneal dialysis

39. Biventricular repair ( Knott - Craig approach)

40. RV exclusion technique / Starnes approach) Fenestrated patch closure of TV orifice (4-5mm) Enlarging the ASD Systemic to pulmonary artery shunt Particularly appealing in Anatomic pulmonary atresia RVOT obstruction Preparing for Fontan procedure

41. RV exclusion technique / Starnes approach)

42. modified Starnes approach (Total ventricular exclusion) Total RV exclusion - Sano Free wall of RV is resected & closed primarily or with PTFE patch Acts like a large RV plication & RV volume reduction procedure May improve LV filling

43. modified Starnes approach (Total ventricular exclusion)

44. Heart transplantation Most severe cases Rarely necessarily Limitations Scarcity of donor organs Long term immunosuppression

45. children & adults Observation alone Asymptomatic No right to left shunt Mild cardiomegaly Normal exercise tolerance NYHA – I / II – Managed medically – Diuretics & Antiarrhythmics

46. children & adults Indications for Operation Symptomatic – Fatigue, Cyanosis, Paradoxical embolism Objevtive evidence Decreasing exercise performance (Exercise testing) Progressive increase in heart size (CXR) Progressive RV dilation or reduction in RVSP (ECHO) Atrial or Ventricular arrhythmias Between 2 and 5 years of age

47. children & adults Operative Managment Closure of ASD Correction of associated anomalies Any indicated antiarrhythmia procedures Internal plication of atrialized RV Repair of TV Right reduction atrioplasty

48. children & adults Anatomic Cone Repair Concept of monocusp repair Depends on adequate anterior leaflet Danielson monocusp repair (Mayo clinic) – Sebening stich (Anterior papillary muscle to ventricular septum) French experience ( Carpentier ) – Mobilization (surgical delamination) of anterior leaflet & annular reattachment Brazilian experience ( da Silva ) – Surgical delamination of all leaflets

49. Anatomic cone repair

50. Anatomic cone repair

51. Anatomic cone repair

52. Anatomic cone repair

53. Anatomic cone repair

54. Anatomic cone repair

55. Anatomic cone repair

56. Adjuncts to cone repair Leaflet augmentation Cor Matrix membrane or autologus pericardium to increase leaflet height

57. Adjuncts to cone repair Cone augmentation Small triangular patch To avoid tricuspid stenosis

58. Adjuncts to cone repair Leaflet plication To increase leaflet height Surgical fenestration To create autologus neochordae when linear attachment is present

59. Adjuncts to cone repair Sebening stich Approximation of mobilized “base intact” anterior papillary muscle to ventricular septum Modified Sebening stich Approximation of mobilized “base intact” RV free wall papillary muscle to corresponding head of papillary muscle arising from ventricular septum

60. Adjuncts to cone repair Artificial Gore-Tex chordae

61. Relative contraindications to cone repair Age > 60 years Moderate pulmonary hypertension Significant LV dysfunction (EF < 30%) Absent septal leaflet Poor delamination or poor quality of anterior leaflet (< 50%) Severe muscularization of anterior leaflet Severe RV enlargement Severe dilation of right AV junction

62. Tricuspid valve replacement Cannot undergo valve repair Inability to obtain a satisfactory cone repair Muscularization of anterior leaflet Absent septal leaflet Age > 60 years Massive RV or annular dilation

63. Tricuspid valve replacement Bioprosthetic (Porcine) valve replacement Good durability in tricuspid positon Lack the need of Warfarin anticoagulation (Require in first 3-6 months ) Mechaical valves Higher frequency of valve malfunction & thrombotic complications when RV function is poor

64. Tricuspid valve replacement

65. The 1.5 ventricle - repair Bidirectional Cavopulmonary shunts When RV is severely dilated poorly functioning Mild – moderate TS (mean grad > 6mmHg) with LV dysfunction PA & LA pressures must be low LVEDP < 12mmHg Transpulmonary grad < 10mmHg PA mean < 18mmHg LVEF 35-40%

66. The 1.5 ventricle - repair Disadvantages Pulsations of head & neck vessels Facial swelling Development of arteriovenous fistulae in pulmonary vasculature Compromises access to pacemaker lead placement

67. Heart transplantation Severe biventricular dysfunction (LVEF < 25%) Significant LV dilation & dysfunction Severe nonstructural mitral regurgitation

68. Postoperative care Discontinuation of CPB Epinephrine & Milrinone Higher heart rates (100-120bpm) are preffered Temporary atrial pacing if needed Low dose Vasopressin Cautious volume administration RA pressures < 10-12 mmHg Nitric oxide

69. Postoperative care At Hospital Discharge Beta blockers / ACE inhibitors Sildenafil for 6-8 weeks Amiodarone for 2-3 months