EBSTEIN’S ANOMALY

• First described by Wilhelm Ebstein in 1866 ; terminology coined by Alfred Arnstein

• 19 yr old cyanotic laborer with CHF

• at autopsy Ebstein found an enlarged and fenestrated ATL; STL & PTL were thickened, hypoplastic and adherent to RV. thin , dilated atrialised RV ; enlarged RA ; PFO

< 1 % of CHD

1 per 200,000 live births

No gender preferance

Most are sporadic ; familial pattern is rare

? Genetic / reproductive / environmental risk factors

EBSTEIN’S ANOMALY

• more common in twins

• maternal exposure to benzodiazepines / lithium

malformation of the tricuspid valve and right ventricle

characterized by

* adherence of the septal and posterior leaflets to the underlying myocardium (failure of delamination, namely splitting of the tissue by detachment of the inner layer during embryologic development);

* downward (apical) displacement of the functional annulus (septal>posterior>anterior);

* dilation of the “atrialized” portion of the right ventricle, with various degrees of hypertrophy and thinning of the wall; * redundancy, fenestrations, and tethering of the anterior leaflet

*dilation of the right atrioventricular junction (true tricuspid annulus)

Pathology

EBSTEIN’S ANOMALY

Ebsteins Normal

EBSTEIN’S ANOMALY

Pathology

Right ventricle

atrialised

functional

trabecular

outlet

In two third cases RV gets dilated – atrialised part RVapex RVOT

EBSTEIN’S ANOMALY

Associated defects

interatrial communication in 80 - 94 %

rarely• bicuspid AV , subaortic stenosis, coarct , VSD, MVP

• PS , pulmonary atresia , hypoplastic pulm. arteries

Analysis of 106 cases by Jost et al (Circ.2007)

Left sided anomalies in 39 %18% of these had LV hypoplasia mimicking LV noncompaction

15 – 50 % of l – TGA has Ebstein’s like malformation of leftAV valve

AV bypass tracts in 20 - 30 %

EBSTEIN’S ANOMALY

Classification

Carpentier et al 1988

Type A - - adequate RV volume

Type B - - large atrialised RV ; mobile ATL

Type C - - restricted mobility of ATL > RVOT obstruction

Type D - - near complete atrialisation of RV

EBSTEIN’S ANOMALY

Physiology

RV dysfunction

Tricuspid regurgitationRetards forward flow

During atrial systole atrialised RV balloons outacting as a passive reservoir ; during ventricular systole, much of this blood is propelled back to RA

Variable – depends on the degree of pathology

High RA pressure & low LA pressure leads to R > L shuntat atrial level

EBSTEIN’S ANOMALY

Physiology

Neonatal periodHigh PVR + RV dysfunction -- behaves like pulm. atresia

R > L shunt at atrial level ; ductus dependent

Few weeks to monthsPVR falls > improvement in RV function > fall in RA pressure> cyanosis disappears

Adolescence / adulthood RV failure > high RA pr . -- R > L interatrial shunt > cyanosis

In patients with intact IAS .. No cyanosis; but severe CHF

EBSTEIN’S ANOMALY

Clinical features

Depends on the severity of malformaton

Asymptomatic to severely symptomatic

Cyanosis , dyspnea , palpitation , s/o CHF

Cyanosis .. Typical triphasic

Pulse .. Low volume ; arrhrythmias

JVP .. UnimpressiveElevated ; A + / V+

Precordium .. Relatively quite despite cardiomegaly RVOT pulsation+

EBSTEIN’S ANOMALY

Clinical features

Auscultation

Cadence of sounds

• split S1 ; loud T1 ( sail sound )• split S2 ; soft P2• RV S3 , S4 • tricuspid OS

Murmurs

• TR murmur• tricuspid MDM

mimics percardial rub

EBSTEIN’S ANOMALY

ECG

RA dilatation > tall P waves -- Himalayan P ( Taussig)

Marked RA dilatation > widening & notching of P . indicates poor prognosis

Right sided pre excitation in 20 – 30 % ( LAD of delta & QRS )

Without WPWRBBB patternQRS axis .. rightward ; rarely normal / leftwardpolyphasic QRS in precordial leadsRVH pattern .. Unusual

Arrhythmias – due to RA dilatation / WPW

SVT / A flutter / A fibVentricular arhhythmias / AV blocks .. Less common

EBSTEIN’S ANOMALY

EBSTEIN’S ANOMALY

Xray

Echocardiogram

MmodeParasternal view .. Simultaneous visuslistionof mitral & tricuspid echoesMeasure the delay from mitral to tricuspid clousrenormal – 20 – 40 ms> 60 ms .. in favour of Ebsteins

2D detailed evaluation of the tricuspid valve apparatusApical displcement of septal leafletchambersassociated lesionsRV functionR > L shunt at atrial level

EBSTEIN’S ANOMALY

EBSTEIN’S ANOMALY

MV closure

TV closureRVdilatation ; Paradoxical septal motion

EBSTEIN’S ANOMALY

The ratio of the combined area of the right atrium andatrialized right ventricle is compared with that of the functional right ventricle and left heart ratio <0.5 grade 1 ratio of 0.5 to 0.99 grade 2 ratio of 1.0 to 1.49 grade 3 ratio ≥1.5 grade 4

Echocardiogram

Grading score .. Celemajor et al

Apical displacement of STL

Normal .. AML to STL distance is upto 8 mm / sq. m BSA.

15 mm / sq.m in children < 14 yrs 20 mm /sq.m in adults

Diagnostic of Ebstein’s

EBSTEIN’S ANOMALY

CMR

EBSTEIN’S ANOMALY

EBSTEIN’S ANOMALY

Cardaic cath

Not really needed now

Mainly for EPS / RFA

Angiographic data can be obtained by CMR

Hemodynamics

Low PA and RV pressure High RA pressureSystemic desaturation

Atrialised RV … RA pressure morphology withRV electrogram

EBSTEIN’S ANOMALY

Management

• Asymptomatic --- follow up

• Newborn with cyanosis .. Maintain PDA with PGE1

• Symptomatic

CHF .. Medical - digoxin , diuretics

Surgery

Arrhythmia .. Antiarrhtyhmics EPS > RFA

Pacing for AV block ( 4 %)

Cyanosis without significant TR ? Role of device closure of ASD

EBSTEIN’S ANOMALY

Surgery

1959 Repair of TV in 2 pts – both died1962 First successful surgery .. TV replacement1974 Initial publication on TVR .. 54 % mortality

Indications

Methods

• Tricuspid valve replacement• Tricuspid valve repair .. Different techniques• one and a half ventricular repair• Heart transplant

• NYHA III – IV• NYHA I – II + CT ratio > 0.65• significant cyanosis• paradoxical embolism• resistant tachyarrhythmias

Surgery

Mayo clinic series

1972 – 2005 ; 540 ptsValve reconstruction – in 35 % .. Early death – 5.4 %Valve replacement - in 65 % .. Early death - 7.6 %

Technique

• construction of a monocuspid valve using ATL• plication of free wall of atrialised RV• posterior tricuspid annuloplasty• reduction right atrioplasty

EBSTEIN’S ANOMALY

EBSTEIN’S ANOMALY

Surgery

1988 – Carpentier et al

• longitudinal plication of atrialised RV and adjacent RA

• mobilisation of ATL and adjacent PTL and repositioning to cover the orificearea at normal level

• remodeling and reinforcement of annulus by prosthetic ring

191 cases

early mortality 9 %

mean late 20 yr survival 80%

EBSTEIN’S ANOMALY

Surgery

One and a half ventricular repair

• tricuspid valve repair

• reduction of atrialised RV

• closure of ASD

• end to side anastamosis of SVC to RPA

EBSTEIN’S ANOMALY

Natural history

Celemajor et al (JACC 1994 )

220 cases from 1958 to 1991 ; FU 1 – 34 yrs

Actuarial survival

67 % at 1 yr ; 59 % at 10 yrs

Predictors of death

• echo grade – 2.7 fold increase in risk for each grade increase• fetal presentation• RVOT obstruction