1.Dr Awadhesh Kumar SharmaEbsteins Anomaly

2. Sequence of presentation Work up Treatment Anatomy Embryology Clinical Features 3. Tricuspid Valve Anatomy 4. TV annulus The tricuspid valve is the most apically (orcaudally) placed valve with the largest orificeamong the four valves. The tricuspid annulus is oval-shaped and whendilated becomes more circular. 20% larger than MV annulus . Normal TV annulus= 3.0 3.5 cm 5. Leaflets The tricuspid valve has three distinct leafletsdescribed as septal, anterior, and posterior. The septal and the anterior leaflets are larger. The posterior leaflet is smaller and appears to beof lesser functional significance since it may beimbricated without impairment of valve function. 6. Leaflets The septal leaflet is in immediate proximity of themembranous ventricular septum, and itsextension provides a basis for spontaneousclosure of the perimembranous ventricular septaldefect. The anterior leaflet is attached to the anterolateralmargin of the annulus and is often voluminousand sail-like in Ebsteins anomaly. 7. Papillary Muscles & Chordae There are three sets of small papillary muscles,each set being composed of up to three muscles. The chordae tendinae arising from each set areinserted into two adjacent leaflets. The anterior set chordae insert into half of theseptal and half of the anterior leaflets. The medial and posterior sets are similarly relatedto adjacent valve leaflets. 8. Transthoracic Views 9. Transesophageal Views 10. Embryologic aspect The leaflets and tensile apparatus of the atrioventricular valves seem to be formed by a process ofdelamination of the inner layers of the inlet zone ofthe ventricles. Delamination of the right ventricular freewall, continues to the level of AV junction. In EA, delamination of these leaflets may have failedto occur due to an incompletely understoodmechanism Process of delamination is incomplete and falls shortof reaching the level of the AV junction. The apical portions of the valve tissue fail to resorbcompletely. Distortion and displacement of the tricuspid valveleaflets, and a part of the right ventricle becomes 11. DEFINITION Congenital defect Origins of septal or posteriorleaflets, or both, are displaceddownward into RV Leaflets are variably deformed Atrialization of right ventricle Anterior leaflet is enlarged and sail- 12. Pathologic anatomy of TV Origin of TV from AV ring &its chordal attachments aremalpositioned Leaflets aremalformed, dysplastic(thickened &distorted), enlarged orreduced in size Septal leaflet alwaysaffected, posterior leafletnearly always, and anteriorleaflet seldom Septal & posterior leaflets 13. Top, Normal tricuspid valve with anterior,posterior,and septal leaflets in 1 plane.Middle, Tricuspid valve in right sidedEbsteins anomaly showing displacementof posterior andseptal leaflets; maximal displacement is atthe crux of the posterior and septal leaflets.Bottom, Tricuspid valve in left-sidedEbsteins anomaly; the displacement ofleaflets is similar to that in the right-sidedanomaly.From Anderson et al.16 Used withpermission of the Mayo Foundation forMedical Education and Research. 14. Pathologic anatomy ofRV Proximal Atrialized in one fourth of heartsdilated When thin moves paradoxically during systole Electrical potentials are ventricular, but pressure pulse is atrialcontoured Distal Smaller than normal RV RV dilatation Functional portion is infundibulum, trabeculated apex, portionbeneath anterior cusp Thinner walled with fewer muscles 15. Severe Ebsteinsmalformation of tricuspidvalve (4-chamber view)showing marked downwarddisplacement of shelf-likeposterior leaflet withattachment to underlyingfree wall by numerousmuscular stumps(arrows), markedly dilatedatrialized portion of rightventricle (ARV), smallfunctional portion of rightventricle (RV), leftwardbowing of ventricularseptum, and markeddilatation of right atrium(RA). LA indicates leftatrium; LV, left ventricle 16. Epidemiology Ebsteins anomaly occurs in 0.3-0.8% of allcongenital heart diseases 1 in 20,000-50,000 live births Equal male: female occurrence Mortality in children presenting in the neonatalperiod is 30-50% Mortality at all ages is 12.5%Arch Anat Physiol 1866:23825 17. Associated defects Commonly associated with: ASD or PFO (90%) VSD, AV canal defect Pulmonary stenosis/atresia (20-25%) Wolff-Parkinson-White Syndromes: Down, Marfan, Noonansumner RG, Jacoby WJ Jr, Tucker DH.Ebsteins anomaly associated with Car-diomyopathy and Pulmonary Hypertension.Circulation 1964;30:578587. 18. Etiology Congenital disease of often uncertaincause. Environmental factors Maternal ingestion of lithium in firsttrimester Maternal benzodiazepine use Maternal exposure to varnishingsubstances Maternal history of previous fetal loss Risk is higher in whites than in otherraces. 19. Genetic factors Rare cases of cardiac transcription factor NKX2.5mutations, 10p13-p14 deletion, and1p34.3-p36.11 deletion have been described inthe anomaly . Recently, Postma et al. reported the results of amutational analysis in a cohort of 141 unrelatedprobands with Ebstein anomaly. Eight were found to have a mutation in the geneMYH7 and six of the eight patients also had leftventricular noncompaction. This may warrant genetic testing and familyevaluation in this subsetemanuel R, OBrien K, Ng R. Ebsteinsanomaly: genetic study of 26 fami-lies. BrHeart J 1976;38:57. 20. Origin 1866 A.D. Hypothesis on single autopsy specimen He even did not see the patient, when later wasalive Word used in 1927 A.D. 21. A pencil sketchof WilhelmEbsteinpublished in theFestschriftcelebratingEbsteins 70thbirthday.Published bypermission ofthe Mayo ClinicProceedings,where it waspublished byMann RJ, Lie JT.The life storyof WilhelmEbstein (18361912) and hisalmostoverlookeddescription of acongenital heart 22. Clinical presentation 23. Presentation at various stages oflife Fetal life: Diagnosed incidentally byechocardiography. Neonatal life and infancy: Cyanosis and/or severeheart failure Improve as pulmonaryvascular resistancedecreases. Adult life: Fatigue, exertionaldyspnea, cyanosis, tricuspid regurgitation and/orright heart failure, and 24. Neonatal presentation Congestive heart failure Due to TR and RV dysfunction Cyanosis Decreased pulmonary blood flow due to R Lshunt through ASD or PFO Increased pulmonary vascular resistance in theneonatal period compounds this problem Murmur 25. Later presentation Cyanosis Due to R L shunt at atrial level Fatigue and dyspnea Secondary to RV failure and decreased LV ejectionfraction Palpitations and sudden cardiac death Incidental murmur Paradoxical embolism 26. Cyanosis Fairly common Right-to-left shunt at the atrial level and/or severe heartfailure Transient in neonatal life with recurrence in adult life May appear for the first time in adult life Transient appearance/worsening of cyanosis in adult lifedue to paroxysmal arrhythmias 27. Fatigue and dyspneaPoor cardiac output secondary to rightventricular failure and decreased leftventricular ejection fraction. Palpitations and sudden cardiac deathSVT in as many as one third of patients Fatal ventricular arrhythmiasaccessory pathways 28. Arrhythmias Due to right atrial enlargement and highprevalence of accessory pathways 30-50% have evidence of WPW secondary to theatrialized RV tissue Mapping and ablation are difficult Atrial dilation disrupts anatomic landmarks Accessory pathways are often multiple 29. Electrophysiologic studies 25-30% have accessory pathways 5-25% have evidence of preexcitation on the surface ECG. Right-sided pathways are more common. Fifty percent of the patients have multiple pathways. Guide ablative therapy. 30. Complications Congestive heart failure Sudden cardiac death Bacterial endocarditis Brain abscess Paradoxical embolism Transient ischemic attacks Stroke 31. Pregnancy & EbsteinsAnomaly Pregnancy seems to be well tolerated with adequatesupervision. 32. Prenatal presentation Difficult to diagnose prenatally Fetal presentation is variable: possiblefeatures include cardiomegaly, RAenlargement, tricuspid regurgitation ordysplasia, arrhythmia, or fetal hydrops Prognosis for the fetus diagnosed in uterowith significant tricuspid valve disease is verypoor (20% survival) Progressive right heart dilatation Cardiac failure Lung hypoplasia Pulmonary stenosis/atresia 33. Cardiothoracic area ratio at 33 (A) and35 (B) weeks gestational age. Aindicates anterior; P, posterior; R, right;and L, left.Circulation September 23, 2003 34. Prognosis & management Prenatal prognosis could be significantlyinfluenced by the ability of foramen ovale todecompress the right atrium Arrythmia due to extreme dilatation of the RAmight be a cause of sudden intrauterine death Ebsteins anomaly without cardiac failure orhydrops: vaginal delivery Cesarean section 35. Physical Examination Cyanosis and clubbing - Varying degrees ofcyanosis at various times in life and transientworsening with arrhythmias Precordial asymmetry Usually left parasternal prominence andoccasionally right parasternal prominence Absent left parasternal (ie, right ventricular) lift animportant negative sign Jugular venous pulse May be normal Large a and v waves late in the course of the 36. Physical Examination Arterial pulses Usually normal Diminished volume Heart sounds First heart sound widely split with loud tricuspid component Mitral component may be soft or absent in the presence of prolongedPR interval. Second heart sound usually is normal widely split when the pulmonary component is delayed due to RBBB. 37. Physical Examination Additional heart sounds and murmurs Third and fourth heart sounds commonly present, even in the absence of congestive heart failure(CHF). Summation of third and fourth heart sounds, especially with prolongedPR interval, can mimic an early diastolic murmur. The holosystolic murmur of tricuspid regurgitation At the lower left parasternal area and sometimes at the apex Murmur intensity and duration increase during inspiration. 38. Routine investigation protocal 39. 12-lead ECG Rhythm Usually normal sinus findings IntermittentlySVT, paroxysmal SVT, atrialflutter, atrialfibrillation, ventriculartachycardia Abnormal P wavesconsistent with right atrialenlargement HimalayanP waves PR interval Most commonly prolonged May be normal or short inpatients with WPW (B)syndrome QRS complex RBBB Low voltage in manypatients 40. Chest X-Ray Cardiomegaly( Rounded or Box-like contour ) Small aortic rootand mainpulmonary arteryshadow Decreasedpulmonaryvasculature 41. Echocardiogram Standard for diagnosis. M-mode Paradoxical septal motion Dilated right ventricle Delayed closure of tricuspid valve leaflets morethan 65 milliseconds after mitral valve closureRoberson DA, Silverman NH. Ebsteinsanomaly: echocardiographic and clinicalfeatures in the fetus and neonate. J AmColl Cardiol 1989;14:13001307. 42. Echocardiogram Two-dimensional Apical displacement of the septal leafletof greater than 8 mm/m2 Abnormalities in morphology and septalattachment of the septal and anteriortricuspid leaflets Eccentric leaflet coaptation Dilated right atrium Dilated right ventricle with decreasedcontractile performance Various left heart structural abnormalities 43. Echocardiogram Doppler studies Varying degrees of tricuspid regurgitation Excludes associated shunts 44. Echocardiogram Assessment of severity and surgical options Functional right ventricular area less than 35% of total right ventriculararea or an atrialized to functional right ventricular ratio greater than 0.5associated with unfavorable prognosis Functional right ventricular size Degree of septal leaflet displacement Amount of leaflet tethering Magnitude of leaflet deformity and dysplasia Aneurysmal dilatation of right ventricular outflow tract (right ventricularoutflow tract-to-aortic root ratio of >2:1 on parasternal short axis view) Moderate-to-severe tricuspid regurgitation 45. Cardiac MRI CMR imaging has emerged as another tool forevaluation of Ebsteins patients It provides quantitative measurement of rightatrial and ventricular size and systolic functioneven in the presence of significant distortion ofright ventricular anatomy.Yalonetsky S, Tobler D, Greutmann M, etal. Cardiac magnetic resonance imagingand the assessment of Ebstein anomaly inadults. Am J Cardiol 2011;107:767773. 46. Cardiac Catheterization No longer required to make/confirm the diagnosis The most diagnostic characteristic- Typicalatrial pressure & ventricular intracardiac ECG inthe atrialized portion of the RV Elevated RAP R-L atrial shunting with systemic desaturation Elevated RVEDP 47. Natural history 48. Natural history It is not uncommon for Ebsteins anomaly to beundiagnosed until adulthood. However, late diagnosis is associated withreduced survival. The mean age of diagnosis in a study of thenatural history of 72 unoperated patients, was23.9 10.4 years. In this group of patients, arrhythmias were themost common clinical presentation (51%) . The estimated cumulative overall survival rateswere 89%, 76%, 53%, and 41% at 1, 10, 15, and20 years of follow-up, respectively. 49. Natural history Predictors of cardiac-related death on univariateanalysis included: Cardiothoracic ratio of 0.65 Increasing severity of TV displacement onechocardiography New York Heart Association (NYHA) class III or IV Cyanosis Severe TR Younger age at diagnosis In a multivariate model, younger age atdiagnosis, male sex, cardiothoracic ratio of 0.65, and the severity of TV leaflet displacement onechocardiography were predictors of late cardiacmortality. 50. Management Severity Assessment Guideline/Indications Medical management Surgical management Post operative functional status 51. Severity assessment 52. Celermajer Index Celermajer et al. described an echocardiographicgrading score for neonates with Ebsteinsanomaly, the Great Ormond Street Echocardiography(GOSE) score, with grades 1 to 4. The ratio of the combined area of the RA andatrialized RV is compared to the functional RV and leftheart. This classification is particularly helpful withneonatal Ebsteins anomaly. Grade 1: ratio 50 years Moderate pulmonary hypertension Significant left ventricular dysfunction: ejectionfraction