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 % 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 left AV valve AV bypass tracts in %

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 regurgitation Retards forward flow During atrial systole atrialised RV balloons out acting 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 shunt at atrial level

EBSTEIN’S ANOMALY Physiology Neonatal period High PVR + RV dysfunction -- behaves like pulm. atresia R > L shunt at atrial level ; ductus dependent Few weeks to months PVR 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.. Unimpressive Elevated ; 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 WPW RBBB pattern QRS axis.. rightward ; rarely normal / leftward polyphasic QRS in precordial leads RVH pattern.. Unusual Arrhythmias – due to RA dilatation / WPW SVT / A flutter / A fib Ventricular arhhythmias / AV blocks.. Less common

EBSTEIN’S ANOMALY

Xray

Echocardiogram Mmode Parasternal view.. Simultaneous visuslistion of mitral & tricuspid echoes Measure the delay from mitral to tricuspid clousre normal – 20 – 40 ms > 60 ms.. in favour of Ebsteins 2Ddetailed evaluation of the tricuspid valve apparatus Apical displcement of septal leaflet chambers associated lesions RV function R > L shunt at atrial level EBSTEIN’S ANOMALY

MV closure TV closure RVdilatation ; Paradoxical septal motion

EBSTEIN’S ANOMALY The ratio of the combined area of the right atrium and atrialized 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

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 pressure Systemic desaturation Atrialised RV … RA pressure morphology with RV 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 died 1962 First successful surgery.. TV replacement 1974Initial 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 pts Valve reconstruction – in 35 %.. Early death – 5.4 % Valve replacement -in 65 %.. Early death % Technique construction of a monocuspid valve using ATL plication of free wall of atrialised RV posterior tricuspid annuloplasty reduction right atrioplasty 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 mortality9 % 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