Ebstein's anomaly

Ebstein's anomaly RAMACHANDRA

Preface• Ebstein’s anomaly is a rare congenital heart disorder occurring in ≈1

per 200 000 live births and accounting for <1% of all cases of congenital heart disease. This anomaly was described by Wilhelm Ebstein in 1866 in a report titled, “Concerning a very rare case of insufficiency of the tricuspid valve caused by a congenital malformation.” The patient was a 19-year-old cyanotic man with dyspnea, palpitations, jugular venous distension, and cardiomegaly. At autopsy, Ebstein described an enlarged and fenestrated anterior leaflet of the tricuspid valve. The posterior and septal leaflets were hypoplastic, thickened, and adherent to the right ventricle. There was also a thinned and dilated atrialized portion of the right ventricle, an enlarged right atrium, and a patent foramen ovale. By 1950, only 3 cases of this anomaly had been published.

Pathology in 3 leaflets of TV

THE ANTERIOR LEAFLET IS THE LARGEST LEAFLET AND IS USUALLY ATTACHED TO THE TRICUSPID VALVE ANNULUS.

THE POSTERIOR AND SEPTAL LEAFLETS ARE VESTIGIAL OR ABSENT AS THERE IS FAILURE OF DELAMINATION (SEPARATION OF THE LAYER OF VALVE TISSUE) FROM THE MYOCARDIUM. WHEN PRESENT, THE FREE EDGES ARE GENERALLY DISPLACED POSTERIORLY AND DOWNWARD FROM THE ATRIOVENTRICULAR JUNCTION AND PROGRESSIVELY TOWARD THE RIGHT VENTRICULAR OUTFLOW TRACT AND APEX

FUNNEL-SHAPED ("SAIL-LIKE") INCOMPETENT STENOTIC.

Change in RV• Tripartite

Atrialized RVSmall RVOut flow tract

EMBRYOLOGY• FAILURE OF DELAMINATION OF EACH OF THE THREE LEAFLETS

NATURAL HISTORY Actuarial survival for all live born patients was 67 percent at one

year and 59 % at 10 years The major causes of death were heart failure, perioperative, and

sudden death The main predictors of death were echocardiographic grade of

severity (relative risk 2.7 for each increase in grade; the grade was based upon the location of displaced tricuspid valve, right ventricular size, and clinical presentation), foetal presentation (relative risk 6.9), and RVOT obstruction (relative risk 2.1).

The outcome was better in patients with less severe disease who presented in later childhood or adulthood

50 % female Majority reach adulthood despite tricuspid regurgitation and

abnormal right ventricular function

ClassificationAttenhofer Jost CH et al: Based on mild/moderate/severe apical displacement,TR and RV size

Carpentier classification(on surgery table finding):A,B,C,D

Danielson GK(Based on Carpentier classification):I,II,III &IV

Danielson GKI II III IV

The ATL is larger and mobile but the posterior and STL are apically displaced, dysplastic, or absent. The ARV size varies from relatively small to large.

The anterior, posterior, and often septal leaflets are present, but are relatively small and displaced in a spiral fashion toward the apex. The atrialized ventricular chamber is moderately large.

The ATL is restricted motion with shortened, fused, and tethered chordae. Direct insertion of papillary muscles into the anterior leaflet is frequently present. The posterior and septal leaflets are displaced, dysplastic, and usually not reconstructable. The ARV is large.

The ARV is severely deformed and displaced into the RV outflow tract. There may be few or no chordae, and direct insertions of the PM into the leading edge of the valve are common. PTL is typically dysplastic or absent, and the septal leaflet is represented by a ridge of fibrous material descending apically from the membranous septum. TV displaced into the RVOT and may cause obstruction of blood flow (functional tricuspid stenosis). RV=ARV

Associated cardiac defects • PFO/ASD• VSD• RVOT OBSTRUCTION• PDA• COA• ARRHYTHMIAS(20%)• DIASTOLIC AND SYSTOLIC DYSFUNCTION, MITRAL VALVE PROLAPSE,

BICUSPID AORTIC VALVE, LEFT VENTRICULAR NONCOMPACTION AND LTGA

CLINICAL PRESENTATION Foetuses — an abnormal routine prenatal scan (86 percent)

Neonates — cyanosis (74 percent)Infants — heart failure (43 percent)Children — an incidental murmur (63 percent)

Adolescents and adults — arrhythmia (42 percent)

Physical examination • CYANOSIS• PAN DIGITAL CLUBBING• MULTIPLE HEART SOUNDS• PULSATILE RVOT• RAISED JVP

Differential diagnosis • UHL’S ANOMALY• TRICUSPID VALVE DYSPLASIA• TRICUSPID VALVE PROLAPSE• TRICUSPID VALVE ENDOCARDITIS• CARCINOID HEART DISEASE• TRAUMATIC INJURY OF THE TRICUSPID VALVE• ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY

Electrocardiogram RAERBBBPREEXCITATION WITH A LBBB WITH PREDOMINANT S

WAVES IN THE RIGHT PRECORDIUM DUE TO RIGHT-SIDED ACCESSORY PATHWAY

LOW-VOLTAGE QRS OVER THE RIGHT-SIDED CHEST LEADS SVT T WITH OR WITHOUT PREEXCITATION:AT/AF/AFIBFIRST DEGREE ATRIOVENTRICULAR BLOCK

Chest radiograph MILD SEVERENORMAL "WALL TO WALL" HEART

DIMINISHED PULMONARY VASCULARITY

RAE INFUNDIBULAR DILATATION

EchocardiographyAPICAL DISPLACEMENT OF THE SEPTAL TRICUSPID VALVE LEAFLET (BY ≥8 MM/M² OF BAS

PARADOXICAL VENTRICULAR SEPTAL MOTION

LOW VELOCITY TR ASD/ PFO OFTEN WITH BD SHUNTING.PFO/ASD/PDA/RVOT OBSTRUCTION

Great Ormond Street Score (GOSE)COMMONLY FOR NEONATEA RATIOAREA OF RA+ARV/TRV+LA+LV THE GREATER THE RATIO, THE WORSE THE PROGNOSIS

ManagementMEDICAL INTERVENTION SURGERY

MILDER FORM RFA:single accessory pathway in 52%, multiple accessory 29% , arrhythmias unrelated to an accessory pathway in 18%.Ablation of a right free wall or right septal pathway was initially successful in 79 and 89 percent, respectively; the recurrence rate was 32 and 29 %.Among those with arrhythmias unassociated with an accessory pathway, ablation was initially successful in 75 percent and 27% had recurrence

ASD CLOSURE PDA CLOSURE

Severe cyanosis GOSE score 3 or 4 CT ratio >80 percent Severe tricuspid

regurgitation Arrhythmia Worsening of SOB/HF

Tricuspid repair techniques Danielson repair Carpentier technique Cone reconstruction

Monocusp repair ATL Right ventricular

plication (vertical) posterior annuloplasty

is performed routinely

detaching ATL from annulus

Delamination of the anterior and inferior leaflets

clockwise rotation to the coronary sinus to create a monocusp valve

The atrialized portion of the RV is plIcated (vertical )

Final hinge is true RV annulus

Contemporary and the most anatomic

delaminating the anterior, posterior, and septal leaflets from the underlying myocardium. The mobilized anterior and posterior leaflets are rotated in a clockwise manner to meet the mobilized septal leaflet. This results in 360 degrees of leaflet tissue, ie, a cone of leaflet tissue, that is then re-anchored at the level of the true annulus.ARV is vertically plicated.

TV repair/TVR follow upTen year survival was 93 % Freedom from bio prosthesis replacement at 10 and 15 years of 98 and 81 % respectively

92 % were NYHA class I or II 94 % were not receiving anticoagulation

Hospital mortality was 3 %

PREGNANCY RV VOLUME OVERLOAD/RAISED RVEDP/CYANOSIS REAPPEAR/RIGHT

VENTRICULAR FILLING PRESSURE/INTRACARDIAC SHUNT INCREASES/ PARADOXICAL EMBOLIZATION/HYPOXEMIA INCREASES THE FETAL RISK

ARRHYTHMIA RISK IS ALSO INCREASED HEART FAILURE PREMATURITY, FETAL WASTAGE, AND CONGENITAL HEART DISEASE

REGARDLESS OF THE PRESENCE OR ABSENCE OF MATERNAL CYANOSIS MATERNAL EBSTEIN’ ANOMALY :FOETAL RISK IS 4 % HAVING EBSTEIN’

ANOMALY PATERNAL EBSTEIN’ ANOMALY :FOETAL RISK IS 1-2 % EBSTEIN’

ANOMALY

Job fitness• mild Ebstein's anomaly defined as no cyanosis, normal right

ventricular size, and with no evidence of atrial or ventricular tachyarrhythmias :all jobs

• Moderate tricuspid regurgitation can participate in low-intensity competitive sports (class IA) , if there is no evidence of arrhythmia on ambulatory ECG/ Holter monitoring other than isolated premature contractions.

• Severe form (severe tricuspid regurgitation, right ventricular enlargement, and/or evidence of arrhythmias) are precluded from all jobs

Plant tree ,Cardiology is not enough