Ebstein anomalyshort review

DR MAHENDRACARDIOLOGY,JIPMER

Epidemiology• First described by Wilhelm Ebstein in 1866.• 0.3-0.8% of all CHD • Prevalence as high as 2.4 per 10000 live births.• Equal male: female occurrence. • 20% to 40% of all neonates diagnosed with Ebstein’s anomaly will not survive 1

month.

DEFINITION• Malformation of the TV and RV.• Characterized by- • (1) adherence of the septal and posterior leaflets to the underlying

myocardium (failure of delamination)• (2) downward(apical) displacement of the functional annulus

(septal/posterior)• (3) dilation of the “atrialized” portion of the right ventricle, with various

degrees of hypertrophy and thinning of the wall.• (4) redundancy, fenestrations, and tethering of the anterior leaflet and

dilation of the right atrioventricular junction (true tricuspid annulus)

Pathologic anatomy of TV• Origin of TV from AV ring & its chordal attachments are malpositioned.• Leaflets are malformed, dysplastic (thickened & distorted), enlarged or reduced in

size.• Septal leaflet always affected, posterior leaflet nearly always, and anterior leaflet

seldom.• Septal & posterior leaflets displaced , maximal displacement is usually at the

commissure.• Anterior leaflet is almost always attached to AV junction.• Adherence create characteristic displacement of valve toward RV apex and even

RVOT.

• normally, downward displacement of the septal and posterior leaflets is less than 8 mm/m2 body surface area.

• anterior leaflet is generally redundant and may contain several fenestrations and Its chordae tendinae are generally short and poorly formed.

• only mobile leaflet tissue is displaced into the right ventricular outflow tract, where it may cause obstruction or form a large sail-like intracavitary curtain.

Pathologic anatomy of RV

• Proximal (atrialized RV)• Atrialized and dilated• When thin moves paradoxically during systole• Electrical potentials are ventricular, but pressure pulse is atrial

contoured.

• Distal • Smaller than normal RV• RV dilatation and dysfunction is universal• Functional portion is infundibulum, trabeculated apex, portion

beneath anterior cusp• Thinner walled with fewer muscles.

Etiology• Congenital disease of often uncertain cause. • Most cases are sporadic, familial Ebstein’s anomaly is rare.• Environmental factors

• Maternal ingestion of lithium in first trimester • Maternal benzodiazepine use• Maternal exposure to varnishing substances• Maternal history of previous fetal loss

• Risk is higher in whites than in other races.

Genetic factors• most case are sporadic • Rare cases of NKX2.5 mutations, 10p13-p14 deletion, and 1p34.3-p36.11

deletion have been described.• Recently, Eight were found to have a mutation in the gene MYH7 and six of the

eight patients also had left ventricular noncompaction.

emanuel R, O’Brien K, Ng R. Ebstein’s anomaly: genetic study of 26 fami-lies. Br Heart J 1976;38:5–7.

Associated defects• Commonly associated with:• ASD or PFO (90%)

• bicuspid or atretic aortic valves

• subaortic stenosis

• coarctation

• mitral valve prolapse

• accessory mitral valve tissue or muscle bands of the left ventricle

• VSD, AV canal defect

• Pulmonary stenosis/atresia (20-25%)

• Wolff-Parkinson-White

• Syndromes:

• Down, Marfan, Noonansummer RG, Jacoby WJ Jr, Tucker DH. Ebstein’s anomaly associated with Car-diomyopathy and Pulmonary Hypertension. Circulation 1964;30:578–587.

predominant clinical finding is tricuspid insufficiency or regurgitation that leads to Severe cyanosis due to

• Dilated RA with R→L shunting thru an interatrial communication (ASD or PFO)• Inadequate function of Distal RV - In severe cases the RV can’t develop adequate

force to open the pulmonary valve (Functional Pulmonary Atresia)• Compromised LV filling by the dilated RV

Other causes of cyanosis due to ↓ Antegrade PBF

• Anatomic pulmonary stenosis or atresia.

• Subpulmonary Obstruction due to abnormal TV tissue

• Elevated PVR of neonatal period.

Pathophysiology

Clinical presentation • May present at any age• Fetal life:

• Diagnosed incidentally by echocardiography.

• Neonatal life and infancy: • Cyanosis and severe heart failure• SVT • Improve as pulmonary vascular resistance decreases.

• Adult life: • Fatigue, exertional dyspnea, cyanosis, heart failure, and palpitations

arrhythmias are common.

Physical examination• Normal• Cynosis/clubbing• Displaced apical impulse• Normal JVP• Holosytolic murmur( TR)• Quadruple rhythm • Hepatomegaly

Carpentier’s classification• In 1988, Carpentier et al. proposed the following classification of Ebstein’s

anomaly -Type A: The volume of the true RV is adequate Type B: A large atrialized component of the RV exists, but the anterior leaflet of

the TV moves freely. Type C: The anterior leaflet is severely restricted in its movement and may cause

significant obstruction of the RVOT Type D: Almost complete atrialization of the ventricle except for a small

infundibular component.

Celermajer Index• Celermajer et al. described an echocardiographic grading score for neonates with

Ebstein’s anomaly, Great Ormond Street Echocardiography (GOSE) score, with grades 1 to 4.

• The ratio of the combined area of the RA and atrialized RV is compared to the functional RV and left heart(LA+LV). This classification is particularly helpful with neonatal Ebstein’s anomaly.

Grade 1: ratio <0.5 Grade 2: ratio of 0.5 to 0.99 Grade 3: ratio of 1.0 to 1.49 Grade 4: ratio ≥ 1.5

Celermajer DS, Bull C, Till JA, et al. Ebstein’s anomaly: presentation and outcome from fetus to adult J Am Coll Cardiol 1994;23:170–176.

GOSE scoreGrade Ratio Mortality

1 <0.5 8%

2 0.5-0.99 9%

3(acyanotic)

1-1.49 10% (neonatal)45% (later)

3 (cyanotic)

1-1.49 100%

4 >1.5 100%

Natural history• 18% of symptomatic newborn die in neonatal period• 30% die before age of 10 yr due to CHF• Median age of death 20 yr.• Less severe anomaly pt remain asymptomatic or mildly symptomatic.• Sudden unexpected death due to arrhythmia.

• Park 5th edition

• Predictors of cardiac-related death: Cardiothoracic ratio of ≥ 0.65 Increasing severity of TV displacement on echocardiographyNew York Heart Association (NYHA) class III or IV CyanosisSevere TRYounger age at diagnosis

Routine investigation protocol

12-lead ECG• Rarely normal• Abnormal P waves consistent with right atrial enlargement – “Himalayan P waves”.• RBBB in 75-92%• PR prolongation is common due to RA enlargement.• Ventricular preexcitation in 10-30%.

Chest X-Ray

• Cardiomegaly ( Rounded or Box-like contour)• Small aortic root and main

pulmonary artery shadow• Decreased pulmonary

vasculature• Large right atrium

Echocardiogram• Gold standard for diagnosis. • Two-dimensional

• Apical displacement of the septal leaflet of greater than 8 mm/m2. • Abnormalities in morphology and septal attachment of the septal and

anterior tricuspid leaflets• Eccentric leaflet coaptation.• Dilated right atrium.• Dilated right ventricle with decreased contractile performance.• Various left heart structural abnormalities.

• Tethering of anterior leaflet

Echocardiogram• Doppler studies

• Varying degrees of tricuspid regurgitation• Excludes associated shunts.• Differentiate between true and functional pulmonary atresia.

Echocardiogram• M-mode • Paradoxical septal motion• Dilated right ventricle• Delayed closure of tricuspid valve

leaflets more than 65 milliseconds after mitral valve closure

• increased velocity and amplitude of anterior tricuspid leaflet motion

Echocardiogram• Assessment of severity and surgical options • Functional right ventricular area less than 35% of total right ventricular area or

an atrialized to functional right ventricular ratio greater than 0.5 associated 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 ventricular

outflow tract-to-aortic root ratio of >2:1 on parasternal short axis view) • Moderate-to-severe TR

Cardiac Catheterization• No longer required to make/confirm the diagnosis• The most diagnostic characteristic- Typical atrial pressure & ventricular intracardiac ECG in the

atrialized portion of the RV• Elevated RAP• R-L atrial shunting with systemic desaturation• Elevated RVEDP.

Management• Severity Assessment• Guideline/Indications• Medical management• Surgical management• Post operative functional status

ACC/AHA recommendation for adult Pts With ebstein’s anomaly• Class I • All pts with Ebstein’s anomaly should have periodic evaluation in a center with expertise

in ACHD. (Level of Evidence: C) • Class I• 1. ECG, chest x-ray, and echocardiography-Doppler are recommended for the diagnostic

evaluation of Ebstein’s anomaly in adult pts. (Level of Evidence: C)• Class IIa • 1. Pulse oximetry at rest and/or during exercise can be useful in the diagnostic evaluation

of Ebstein’s anomaly in adult pts. (Level of Evidence: C)• 2. EP study can be useful in the diagnostic evaluation of Ebstein’s anomaly in adult pts if a

supraventricular arrhythmia is documented or suspected (subsequent radiofrequency catheter ablation should be considered if clinically feasible). (Level of Evidence: C)

• additional diagnostic tests can be useful for comprehensive evaluation of Ebstein’s anomaly in adult pts:

• a. Doppler TEE examination if the anatomic information is not provided by transthoracic imaging. (Level of Evidence: B)

• b. Holter monitoring. (Level of Evidence: B) • c. EP study for history or ECG evidence of accessory pathway. (Level of Evidence:

B)• d. CAG when surgical repair is planned, if there is a suspicion of coronary artery

disease, and in men 35 years or older, premenopausal women 35 years or older who have coronary risk factors, and postmenopausal women. (Level of Evidence: B)

• Recommendation for Medical Therapy-• Class I • 1. Anticoagulation with warfarin is recommended for patients with Ebstein’s anomaly with a history of

paradoxical embolus or atrial fibrillation. (Level of Evidence: C) .

• Recommendation for Catheter Interventions for Adults With Ebstein’s Anomaly• Class I • 1. Adults with Ebstein’s anomaly should have catheterization performed at centers with expertise in

catheterization and management of such patients. (Level of Evidence: C)

• Recommendation for Electrophysiology Testing/Pacing Issues in Ebstein’s Anomaly • Class IIa • 1. Catheter ablation can be beneficial for treatment of recurrent supraventricular tachycardia in some

patients with Ebstein’s anomaly. (Level of Evidence: B)

indication of sxClass IThe following situations warrant intervention:• Limited exercise capacity (New York Heart Association class greater than II) (Level of

Evidence: B)• Increasing heart size (cardiothoracic ratio greater than 65%) (Level of Evidence: B)• cyanosis (resting oxygen saturations < 90%) (Level of Evidence: B)• Severe tricuspid regurgitation with symptoms (Level of Evidence: B)• Transient ischemic attack or stroke (Level of Evidence: B)• Prior to significant LV/RV dysfunction.Every effort should be made to preserve the native TV. (Level of Evidence: C)

Presentation at Annual CCS Meeting in Edmonton 2009

• Surgeons with training and expertise in CHD should perform concomitant arrhythmia surgery in pts with Ebstein’s anomaly and the following indications:

• a. Appearance/progression of atrial and/or ventricular arrhythmias not amenable to percutaneous treatment. (Level of Evidence: B)

• b. Ventricular preexcitation not successfully treated in the electrophysiology laboratory. (Level of Evidence: B)

• rerepair or replacement of the tricuspid valve is recommended in adults with Ebstein’s anomaly with the following indications:

• Symptoms, deteriorating exercise capacity, or New York Heart Association functional class III or IV. (Level of Evidence: B)

• Severe TR after repair with progressive RV dilation, reduction of RV systolic function, or appearance/ progression of atrial and/or ventricular arrhythmias. (Level of Evidence: B)

• Bioprosthetic tricuspid valve dysfunction with significant mixed regurgitation and stenosis. (Level of Evidence: B)

• Predominant bioprosthetic valve stenosis (mean gradient greater than 12 to 15 mm Hg). (Level of Evidence: B)

• Operation can be considered earlier with lesser degrees of bioprosthetic stenosis with symptoms or decreased exercise tolerance. (Level of Evidence: B).

• Recommendation for Reproduction • Class I • 1. Women with Ebstein’s anomaly should undertake prepregnancy counseling with a physician

with expertise in ACHD. (Level of Evidence: C)• Most women have a successful pregnancy with proper care.• increased risk of low birth weight and fetal loss if significant cyanosis is present. • The risk of CHD in the offspring (in the absence of a family history) is approximately 6%.

• Recommendation for Endocarditis Prophylaxis • Class IIa • Antibiotic prophylaxis before dental procedures is reasonable in cyanotic patients with Ebstein’s

anomaly and postoperative patients with a prosthetic cardiac valve. (Level of Evidence: C)

Arrhythmia management• Atrioventricular reentrant tachycardia related to accessory pathways can occur in

children with EA. • anterograde fast conduction over an accessory pathway may lead to rapid

ventricular activation and potentially degenerate into ventricular fibrillation.• adolescents and adults, arrhythmia symptoms are the most common

presentation of EA (42 %).• accessory pathway or nodal atrioventricoular reentrant tachycardia being more

common at a younger age.• later in life, atrial tachycardiaand atrial fibrillation have a higher prevalence.

• Normal hearts, the compact node is located at the apex of the triangle of Koch.• in EA AV node is compressed and the central fibrous body malformed, can be closer to

the orifice of the coronary sinus. • This peculiarity extremely important trans catheter ablation of atrioventricular nodal

reentrant tachycardia,• targets the nodal slow pathway located at the base of the triangle of Koch in the

proximity of the coronary sinus ostium. • prevalence of preexcitation in neonates with EA has been reported to be• around 10 %.• in different series, 5–25 % of EA patients have an accessory pathways.• 6–30 % of cases the connections are multiple.

• displacement of the septal tricuspid valve leaflet is associated with a discontinuity of the atrioventricular junction leading to muscular connections between the right atrium and ventricle.

• localization of almost all accessory pathways around the orifi ce of the malformed tricuspid valve, and the majority of them being located in the region between the mid-septal and the posterolateral tricuspid annulus.

EP challenges in EA• first issue is the localization of the accessory pathway. • identify the true atrioventricular groove is difficult because of the distortion of

the normal anatomy of the right chambers. • right coronary artery runs in the true atrioventricular grove,an angiography may

help to identify this anatomical landmark. • atrialized right ventricle can be characterized by abnormal fragmented

electrograms, rendering the interpretation of recorded signals around the target area difficult.

• catheter manipulation is often more difficult in these patients because of the dilatation of the right chambers.

• All these technical consideration explain lower success rate.

Antiarrhythmic Drug• class IC drugs are used with great concern secondary to their negative inotropic

and possible proarrhythmic effect• Amiodarone is less proarrhythmic and has a less negative inotropic effect. • Beta-blockers and sotalol are often used to control arrhythmia.

Principle of surgical management• complete or subtotal closure of intra atrial communication.• Tricuspid valve repair or replacement • Elimination of arrhythmias• Selective plication of atrialized RV• Right reduction atrioplasty • Repair of associated defects.

• Palliative procedure-for critically ill neonate• A)BT shunt (with enlargement of ASD)-• Obstructive lesion between RV and PA• Good LV function required • Fontan later

• B)starnes operation(pericardial closure of TV or plication of large RA,enlargement of ASD, and BT shunt)

• If LV is pancaked by RV/RA• Fontan later

• Definitive procedure-• patient with good size RV and function are candidate for biventricular repair with

TV repair or replacement.• 1.Danielson monocusp repair-• Creation of monocusp valve using anterior leaflet to coapt withventricular septum• Atrialized RV free wall transverse plication • Posterior tricuspid anuloplasty• Right reduction atrioplasty• 30 days mortality 5.9%,survival 85% at 10 yrs,71% at 20 yrs.

Moss and Adams 9th edition

• Carpentier repair-• type of monocusp repair• 1987 - 1991, 13 pts was treated with Carpentier's type of repair• mean age 16.3 yrs. • three hospital deaths.• Follow-up ranged from 49 to 105 months,no late deaths and all patients were in NYHA functional

class I or II.

G Ital Cardiol. 1996 Dec;26(12):1415-20

• Cone reconstruction(CR)-• Most anatomically correction

• Tricuspid valve replacement• Repair is preferred in most pts.• If not feasible then porcine bioprosthatic valve replacement is good alternative in

older pts• Bioprosthatic valve is preferred over mechanical due to relatively good durability

and lack of need for anticoagulation.

• Bidirectional cavopulmonary connection adjunct to tricuspid repair-• Reduce 1/3 of venous return to dysfunctional RV • Provide sufficient preload to LV to maintain adequate systemic perfusion.

• Indication of BDCPA-• Severe RV enlargement or dysfunction• Compression of LV due shifting of IVS• Moderate TS(mean >8) after CR• RA to LA pressure ration >1.5

• Disadvantage of BDCPA-• Pulsatility in head and neck vein• Facial swelling• Development of veno-veno collateral/pulmonary AV fistula• Limitation of access to heart from IJV.• Preop LVEDP<12 mmhg, tranpulmonary gradient <10, MPAP <16mmhg predict successful

outcome of BDCPA.• Transplantation-• rarely required • Presence of severe biventricular dysfunction with EF <25%.

Management at birth

conclusion• Rare congenital malformation of TV. • Two dimensional echocardiography is essential to identify the abnormal tricuspid

valvar complex and to guide management.• Broad spectrum of clinical presentation, Presented as asymptomatic to CHF,

cyanosis and arrhythmias• Associated with multiple APs.• Once diagnosis periodic evaluation is needed for better management and risk

assessment.• Timing and the type of surgery are variable, surgical techniques range from

biventricular or univentricular repair to tricuspid valve replacement.• No definitive surgery but con reconstruction had better result in recent study.

Thank you