Ebsteins Anomaly

Case ManagementCase Management

Zahir Rahman Zahir Rahman 4.12.044.12.04

H & PH & P

56 y.o with h/o of HTN and WPW56 y.o with h/o of HTN and WPW Presented to the ED with c/o of palpitations for 1 Presented to the ED with c/o of palpitations for 1

hour with mild chest discomfort. Denied hour with mild chest discomfort. Denied dizziness or SOBdizziness or SOB

In ED, pt found to be tachycardic with HR 190 In ED, pt found to be tachycardic with HR 190 and bp 92/50and bp 92/50

Pt had a h/o of multiple admissions (5-6 Pt had a h/o of multiple admissions (5-6 episodes in the last 6 years) for tachycardia episodes in the last 6 years) for tachycardia always treated with IV medications, never had always treated with IV medications, never had EPS, never been cardioverted and had always EPS, never been cardioverted and had always refused ablationrefused ablation

H & PH & P

PMHxPMHx HTNHTN WPWWPW DMDM ? Hole in the heart? Hole in the heart

SHxSHx 1ppd x 40 y1ppd x 40 y Occ Etoh Occ Etoh No drugsNo drugs

MedicationsMedications Inderal LA 160 qdInderal LA 160 qd Quinidine 325 po Quinidine 325 po

qdqd AmarylAmaryl

Labs:Labs: H/H: 17.9/51.4H/H: 17.9/51.4 Bun/Cr: 10/1.4Bun/Cr: 10/1.4

Physical Exam Physical Exam

Vs: BP 122/84 HR 86Vs: BP 122/84 HR 86 Gen: A & O x 3 with NADGen: A & O x 3 with NAD Neck: no JVDNeck: no JVD Lungs: CTA b/lLungs: CTA b/l CV: RRR, tachycardic, s1 and s2 CV: RRR, tachycardic, s1 and s2

normalnormal EXT: no edema EXT: no edema

EKGEKG

H & P H & P

Patient was given adenosine without Patient was given adenosine without success or change in the rhythmsuccess or change in the rhythm

Patients bp dropped to 76/40 with Patients bp dropped to 76/40 with adenosine and responded to IVF adenosine and responded to IVF increasing bp 100/60. increasing bp 100/60.

After discussion with EP, patient was After discussion with EP, patient was electively cardioverted with 50 joule electively cardioverted with 50 joule biphasic synchronized converting to NSR biphasic synchronized converting to NSR

BP increased to 122/84 post cardioversionBP increased to 122/84 post cardioversion

EKG with defibrillationEKG with defibrillation

EKG post defibEKG post defib

EchoEcho

EchoEcho

NL LV functionNL LV function NL RV function, RV not dilatedNL RV function, RV not dilated Moderate eccentric MRModerate eccentric MR Septal leaflet displacement TV (35 mm)Septal leaflet displacement TV (35 mm) Displacement index (17 mm/mDisplacement index (17 mm/m22)) VSD (? Flow)VSD (? Flow) Trace TRTrace TR Mild LV diastolic dysfunctionMild LV diastolic dysfunction ?ASD?ASD

W sign: direct atrial to ventricular conduction seen with accessory bypass tracts

Atrial PES generating orthodromic tachycardia

Refractory accessory bypass tract and conduction through AV node to generate tachycardia

Ebstein’s Anomaly of the Ebstein’s Anomaly of the Tricuspid ValveTricuspid Valve

Ebstein’s AnomalyEbstein’s Anomaly

First described by Wilhelm Ebstein in 1866First described by Wilhelm Ebstein in 1866 19 y.o. boy with pulmonary TB c/o SOB and palpitations 19 y.o. boy with pulmonary TB c/o SOB and palpitations

since childhoodsince childhood At autopsyAt autopsy

Tricuspid valve was markedly abnormal with valvular Tricuspid valve was markedly abnormal with valvular tissue attached partially to the tricuspid annulus and tissue attached partially to the tricuspid annulus and adherent to the right ventricular myocardiumadherent to the right ventricular myocardium

The Foramen Ovale was patent and his right heart The Foramen Ovale was patent and his right heart chambers were dilated chambers were dilated

In 1927, Alfred Arnstein suggested the name Ebstein's In 1927, Alfred Arnstein suggested the name Ebstein's anomaly for these defects anomaly for these defects

In 1937, Yates and Shapiro described the first case of In 1937, Yates and Shapiro described the first case of the anomaly with associated radiographic and the anomaly with associated radiographic and electrocardiographic data. electrocardiographic data.

Graham TP et al. Roberts Congenital Heart Disease in adults. Complex cyanotic heart disease in adults: 395-99.


The prevalence of Ebstein’s is estimated to The prevalence of Ebstein’s is estimated to be 5.2/100,000 live birthsbe 5.2/100,000 live births

Accounts for < 1 % of Congenital heart Accounts for < 1 % of Congenital heart diseasedisease

Case control analyses suggest genetic, Case control analyses suggest genetic, reproductive and environmental risk reproductive and environmental risk factors:factors: FHxFHx White RaceWhite Race Previous miscarriagesPrevious miscarriages Maternal exposure to BZD and LithiumMaternal exposure to BZD and Lithium

Ferencz et al. Ebsteins malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 1994;50:137-47.


Varying degrees of apical displacement or Varying degrees of apical displacement or dysplasia of the septal and posterior leaflet of T.V.dysplasia of the septal and posterior leaflet of T.V.

Atrialization of the inflow tract of the right Atrialization of the inflow tract of the right ventricle (loss of coarse trabeculae)ventricle (loss of coarse trabeculae)

A variably small functional (muscular) right A variably small functional (muscular) right ventricleventricle

Varying degrees of malformation and Varying degrees of malformation and displacement of the anterior leafletdisplacement of the anterior leaflet Usually elongated and sail-like Usually elongated and sail-like

1. Freedom RM et al. Topol Textbook of CV Medicine. Congenital Heart Disease: Chapter 30.

2. Friedman WF et al. Braunwald Heart Disease. Congenital Heart Diesease: Chapter 43.

Ebstein’s anomaly and distal Ebstein’s anomaly and distal linear attachmentslinear attachments

A: Moderate displacement of septal and posterior leaflets (closed arrow) with mobile anterior leaflet (open arrow).

B: Marked displacement of septal and posterior leaflets with mobile anterior leaflet

C: Nonmobile anterior leaflet with chordal tethering (arrows) to ventricle

D: Severely stenotic or imperforate Ebstein’s anomaly (arrows).

Freedom RM et al. Topol Textbook of CV Medicine. Congenital Heart Disease: Chapter 30.

Carpentier’s ClassificationCarpentier’s Classification

•Type A – RV volume is adequate

•Type B – Large atrialized RV segment; mobile anterior leaflet

• Type C – Restricted motion of anterior leaflet; may cause infindubular obstruction

•Type D – Near complete atrialization of RV

Ebstein’s Anomaly : Clinical Ebstein’s Anomaly : Clinical Presentation Presentation

The degree of impairment of RV The degree of impairment of RV function is primarily dependant on:function is primarily dependant on:11

Extent of atrialized RV inflowExtent of atrialized RV inflow Magnitude of T.R.Magnitude of T.R.

With mild T.V. displacement, patients With mild T.V. displacement, patients have survived to 7have survived to 7thth and 8 and 8thth decade of decade of life.life.22

Fetuses with florid T.R. develop severe Fetuses with florid T.R. develop severe hydrops with intrauterine death.hydrops with intrauterine death.22



Ebstein’s: Associated Ebstein’s: Associated AnomaliesAnomalies

Interatrial communication is found in over 50% Interatrial communication is found in over 50% of Ebstein’s patientsof Ebstein’s patients PFO or Secundum ASDPFO or Secundum ASD

Pulmonic Stenosis or atresia is the most Pulmonic Stenosis or atresia is the most common important associated defectcommon important associated defect Neonatal elevated PVR increases TR, increasing R to Neonatal elevated PVR increases TR, increasing R to

L shunt, worsening cyanosisL shunt, worsening cyanosis ASD primum and VSD alone or in combinationASD primum and VSD alone or in combination RVOTORVOTO Tetralogy of FallotTetralogy of Fallot Ebsteins is commonly observed associated Ebsteins is commonly observed associated

with congenitally corrected TGA (or L-type)with congenitally corrected TGA (or L-type)

Freedom RM et al. Topol Textbook of CV Medicine. Congenital Heart Disease: Chapter 30.

Ebsteins: Clinical Ebsteins: Clinical Presentation and outcomePresentation and outcome

Celermajer et al. Celermajer et al. reviewed 220 reviewed 220 cases of Ebsteins cases of Ebsteins anomaly from anomaly from fetal to adult life fetal to adult life between 1958 between 1958 and 1991 with 1 – and 1991 with 1 – 34 years of follow 34 years of follow up.up.

Study was Study was conducted to conducted to investigate the investigate the presentation and presentation and outcome of outcome of patients with patients with Ebstein’s Ebstein’s anomaly.anomaly.

Celermajer et al. Ebstein’s anomaly: presentation and outcome from fetus to adult. JACC 1994;23:170-6.

Ebstein’s: MC presentation in Ebstein’s: MC presentation in each age groupeach age group

Fetuses Fetuses 86% - abnormal 86% - abnormal

routine prenatal routine prenatal scanscan

Neonates (0-1 mos)Neonates (0-1 mos) 74% with cyanosis74% with cyanosis

Infants (2mos – 2yr)Infants (2mos – 2yr) 43% with heart 43% with heart

failurefailure 35% with cyanosis35% with cyanosis

Children (3-10 y)Children (3-10 y) 63% with incidental 63% with incidental

murmurmurmur Adolescent (11-18 Adolescent (11-18

y)y) 40% with arrythmia40% with arrythmia 33% with incidental 33% with incidental

murmurmurmur Adult (> 18 y)Adult (> 18 y)

43% with arrythmia43% with arrythmia 26% - HF with DOE26% - HF with DOE


Ebstein’s Ebstein’s


Ebstein’s: outcome Ebstein’s: outcome

Early presentation usually associated with Early presentation usually associated with pulmonary stenosis or atresiapulmonary stenosis or atresia

Actuarial survival for a all liveborn patientsActuarial survival for a all liveborn patients 67% at 1 y and 61% at 10 y67% at 1 y and 61% at 10 y

58 total deaths58 total deaths 25 HF, 19 periop, 8 sudden25 HF, 19 periop, 8 sudden

Predictors of death:Predictors of death: Echocardiographic grade of severity at presentationEchocardiographic grade of severity at presentation Fetal presentationFetal presentation RVOTORVOTO

Morbidity was mainly related to arrhythmias Morbidity was mainly related to arrhythmias and late hemodynamic deteriorationand late hemodynamic deterioration


Ebsteins: Physical exam Ebsteins: Physical exam

S1 – abnormal with loud second componentS1 – abnormal with loud second component Secondary to abrupt cessation of motion of the large Secondary to abrupt cessation of motion of the large

sail-like anterior tricuspid leaflet (sail-sound)sail-like anterior tricuspid leaflet (sail-sound) Split S2 – due to RBBB or single S2 if Split S2 – due to RBBB or single S2 if

decreased PBFdecreased PBF S3 and S4 to produce quadruple and quintuple S3 and S4 to produce quadruple and quintuple

rhythmsrhythms Cyanosis +/- Cyanosis +/-

Central if R to L shuntCentral if R to L shunt Peripheral if low output failurePeripheral if low output failure

Peripheral pulses normal or slightly diminished Peripheral pulses normal or slightly diminished with low output heart failurewith low output heart failure

TR - HSM which increase with inspirationTR - HSM which increase with inspiration Even with severe TR – JV pulsations are rarely Even with severe TR – JV pulsations are rarely

abnormal probably because of the damping effect of abnormal probably because of the damping effect of a large right atrium a large right atrium Friedman WF et al. Braunwald Heart Disease. Congenital Heart Diesease: Chapter 43.

Ebstein’s: CXREbstein’s: CXR ““Balloon shaped” Balloon shaped”

enlarged heart with a enlarged heart with a narrow vascular pediclenarrow vascular pedicle

Right atrium is usually Right atrium is usually quite prominent virtually quite prominent virtually filling the right chestfilling the right chest

Pulmonary vascularity Pulmonary vascularity correlates with degree of correlates with degree of atrial shunting: in atrial shunting: in cyanotic patients cyanotic patients pulmonary flow is pulmonary flow is diminished and lung diminished and lung fields are oligemic fields are oligemic

Cardiomegaly, highly Cardiomegaly, highly variable is the rulevariable is the rule

Friedman WF et al. Braunwald Heart Disease. Congenital Heart Diesease: Chapter 43.

Ebstein’s: EKGEbstein’s: EKG Tall, broad “Himalayan” P wavesTall, broad “Himalayan” P waves11

Prolonged PR interval in pts w/o WPWProlonged PR interval in pts w/o WPW11

Commonly a distinctive RBBB (50-75%)Commonly a distinctive RBBB (50-75%)11

Splintered v4R, v1 with rsR’ or rsR’S’ with Splintered v4R, v1 with rsR’ or rsR’S’ with usually low voltage R’usually low voltage R’

SVT: Afib, Aflutter, PAT, Junctional SVT: Afib, Aflutter, PAT, Junctional Tachycardia in 25-50% ptsTachycardia in 25-50% pts11

WPW with short PR in 25% ptsWPW with short PR in 25% pts22

Low voltage is typicalLow voltage is typical33 Alternatively, ECG is normalAlternatively, ECG is normal33

1. Graham TP et al. Roberts Congenital Heart Disease in adults. Complex cyanotic heart disease in adults: 395-99.

2. Bialostozky et al. Ebstein’s malformation of tricuspid valve. Am. J. Cardiology. 1972:29;826.


Ebstein’s : WPWEbstein’s : WPW

Right sided accessory pathwaysRight sided accessory pathways Failure of the AV annulus to fuse with the Failure of the AV annulus to fuse with the

hypoplastic central cardiac skeleton hypoplastic central cardiac skeleton allowing the fetal AV accessory pathways allowing the fetal AV accessory pathways to presist.to presist. Usually a band like area of accessory tracts Usually a band like area of accessory tracts

which is difficult to ablate in adultswhich is difficult to ablate in adults Orthodromic re-entry tachycardia is the Orthodromic re-entry tachycardia is the

most common mechanism ( AV node most common mechanism ( AV node anterograde conduction and accessory anterograde conduction and accessory pathway retrograde conduction)pathway retrograde conduction)

Graham TP et al. Roberts Congenital Heart Disease in adults. Complex cyanotic heart disease in adults: 395-99.

Ebsteins: CatheterizationEbsteins: Catheterization

• Quantify R to L shunting

• Estimate degree of T.R.

• Estimate size of atrialized and distal RV cavities.

• Measure C.O.

• Identify other associated anomalies

• Rarely, needed unless assessing coronary anatomy

• Simultaneous intracardiac electrogram and pressure recording obtained from the atrialized portion of the RV:

• An atrial pressure waveform

• An ventricular electrogram Graham TP et al. Roberts Congenital Heart Disease in adults. Complex cyanotic heart disease in adults: 395-99.

Ebsteins - Ebsteins - echocardiographyechocardiography

Gold standard for diagnosis Gold standard for diagnosis of Ebsteins anomalyof Ebsteins anomaly

4 chamber views shows 4 chamber views shows downward displacement of downward displacement of

the septal leaflet and the septal leaflet and motion or tethering of motion or tethering of

leafletsleaflets Subcostal view defines the Subcostal view defines the

dysplasia of the leaflets of dysplasia of the leaflets of the valve, RAEthe valve, RAE

Degree of TR or TS can Degree of TR or TS can also be determined by also be determined by

color flow dopplercolor flow doppler

Friedman WF et al. Braunwald Heart Disease. Congenital Heart Diesease: Chapter 43.

Ebsteins: Ebsteins: EchoEcho

Shina et al found Shina et al found that a that a displacement displacement index of > 8 index of > 8 mm/m2 was a mm/m2 was a sensitive predictor sensitive predictor for ebsteins for ebsteins anomalyanomaly..

Shina et al. 2D echocardiographic spectrum of Ebsteins anomaly: Detailed anatomic assessment. JACC 1984: 3.

Ebstein’s: Ebstein’s: Echocardiographic Echocardiographic Severity indexSeverity index

Celermajer et al. Celermajer et al. developed a new developed a new echocardiographic echocardiographic grade (1 to 4) in order grade (1 to 4) in order of increasing severityof increasing severity

Cardiac death by grade Cardiac death by grade in infants:in infants: I: 0 of 4I: 0 of 4 II: 1 of 10 (10%)II: 1 of 10 (10%) III: 4 of 9 (44%)III: 4 of 9 (44%) IV: 5 of 5 (100%)IV: 5 of 5 (100%)

Celermajer et al. Outcome in neonates with Ebstein’s anomaly. JACC 1992; 19:1047-8.

Recommendations for Diagnostic Recommendations for Diagnostic Evaluation of Ebstein’s Anomaly in Evaluation of Ebstein’s Anomaly in

the Adolescent or Young Adultthe Adolescent or Young Adult

CLASS ICLASS I ECGECG Chest X-rayChest X-ray Echo - Doppler Echo - Doppler

StudyStudy Pulse Oximetry at Pulse Oximetry at

rest and/ or during rest and/ or during exerciseexercise

CLASS IIaCLASS IIa EPS if documented EPS if documented

or suspected atrial or suspected atrial arrythmiaarrythmia

Above studies at Above studies at initial evaluation initial evaluation and every 1 – 3 and every 1 – 3 years, depending years, depending upon severityupon severity

BONOW ET AL., ACC/AHA TASK FORCE REPORTJACC Vol. 32, No. 5, November 1998:1486-1588 ACC/AHA Guidelines for the Management of Patients With Valvular Heart Disease

Ebstein’s: Medical CareEbstein’s: Medical Care All patients need lifetime bacterial All patients need lifetime bacterial

endocarditis.endocarditis.11

In Ductal-dependent Ebsteins (due to a In Ductal-dependent Ebsteins (due to a functional pulmonary stenosis)functional pulmonary stenosis) E-type prostaglandin dilates the arterial duct E-type prostaglandin dilates the arterial duct

improving oxygenation and cardiac output for infants improving oxygenation and cardiac output for infants who are dangerously hypoxemic.who are dangerously hypoxemic.11

For SVTs and accessory pathways, RFA should For SVTs and accessory pathways, RFA should be performed prior to TV surgery to avoid the be performed prior to TV surgery to avoid the need for intraoperative AV disconnection.need for intraoperative AV disconnection.22

In the pediatric radiofrequency ablation In the pediatric radiofrequency ablation registry’s experience:registry’s experience: Acute success rate has been reported between 27-Acute success rate has been reported between 27-

90% with recurrence rates as high as 32%.90% with recurrence rates as high as 32%.33


2. Graham TP et al. Roberts Congenital Heart Disease in adults. Complex cyanotic heart disease in adults: 395-99

3. Reich et al. The Pediatric Radiofrequency Ablation Registry’s experience with Ebstein’s anomaly. J Cardiovasc Electrophysiol 1998;9:1370-7.

Recommendations for Surgery in the Recommendations for Surgery in the Adolescent or Young Adult with Ebstein’s Adolescent or Young Adult with Ebstein’s

Anomaly with Severe Tricuspid Anomaly with Severe Tricuspid RegurgitationRegurgitation

Class IClass I CHFCHF Deteriorating exercise Deteriorating exercise

capacity – NYHA Class capacity – NYHA Class III or IVIII or IV

Progressive cyanosis Progressive cyanosis with arterial sat < with arterial sat < 80% at rest or with 80% at rest or with exerciseexercise

Progressive cardiac Progressive cardiac enlargement with a enlargement with a cardiothoracic ratio > cardiothoracic ratio > 60%60%

Class IIaClass IIa Systemic emboli Systemic emboli

despite adequate despite adequate anticoagulationanticoagulation

NYHA class II with valve NYHA class II with valve reparablereparable

Atrial FibrillationAtrial Fibrillation Deteriorating exercise Deteriorating exercise

tolerance (NYHA II)tolerance (NYHA II) Asymptomatic patients Asymptomatic patients

with increasing heart with increasing heart sizesize

Class IIbClass IIb Asymptomatic patients Asymptomatic patients

with stable heart sizewith stable heart size

BONOW ET AL., ACC/AHA TASK FORCE REPORTJACC Vol. 32, No. 5, November 1998:1486-1588 ACC/AHA Guidelines for the Management of Patients With Valvular Heart Disease

Ebstein’s: Surgery Ebstein’s: Surgery

In the most severe form (RV In the most severe form (RV hypoplastic and pulmonic atresia)hypoplastic and pulmonic atresia) Close the tricuspid valve Close the tricuspid valve

Creating a tricuspid atresia physiology Creating a tricuspid atresia physiology (Starnes procedure)(Starnes procedure)

Create a systemic artery to pulmonary Create a systemic artery to pulmonary artery shunt artery shunt

Cardiothoracic Surgery. www.ctsnet.org

Ebstein’s: SurgeryEbstein’s: Surgery

• At 6 mos of age: Glenn procdure is done

• At 2-4 years a fontan completion is usually performed

Cardiothoracic Surgery. www.ctsnet.org

Ebstein’s: SurgeryEbstein’s: Surgery Goal of surgery is to increase pulmonary Goal of surgery is to increase pulmonary

blood flow, minimize TR, eliminate blood flow, minimize TR, eliminate interatrial shunting and improve right interatrial shunting and improve right ventricular functionventricular function

For moderate to severe forms: For moderate to severe forms: Atrialized ventricle plicationAtrialized ventricle plication Tricuspid valve reconstructionTricuspid valve reconstruction

Either repairEither repair BioprosthesisBioprosthesis Mechanical prosthesisMechanical prosthesis

DeVega tricuspid annuloplastyDeVega tricuspid annuloplasty

Renfu et al. Experience in corrective surgery for Ebstein’s anomaly in 139 patients. J Heart Valve Dis 2001;10:396-8.

Ebstein’s: OutcomesEbstein’s: Outcomes

Mortality in neonates (n=46) has improved Mortality in neonates (n=46) has improved from 81% (1954-1985) to 47% (1986-1996).1from 81% (1954-1985) to 47% (1986-1996).1

Perioperative mortality (n=139) has improved Perioperative mortality (n=139) has improved from 8.6% (1980-1990) to 3.3% (1990-2000).2from 8.6% (1980-1990) to 3.3% (1990-2000).2

In unoperated adult patients (n=72), mean In unoperated adult patients (n=72), mean age (23.9 +/- 10.4 y) followed for 1.6 to 22 age (23.9 +/- 10.4 y) followed for 1.6 to 22 years, 42% mortality.3years, 42% mortality.3 MC cause of death was heart failureMC cause of death was heart failure

Actuarial survival (n=220) 67% at 1 y and 61% Actuarial survival (n=220) 67% at 1 y and 61% at 10 y.4at 10 y.4

1. Yetman AT, Freedom et al. Outcome of cyanotic neonates with Ebstein’s Anomaly. Am J Cardio 1998:81:749-54.

2. Renfu et al. Experience in corrective surgery for Ebstein’s anomaly in 139 patients. J Heart Valve Dis 2001;10:396-8.

3. Attie et al. The adult patient with Ebstein anomaly. Outcome of 72 unoperated patients. Medicine 2000;79:27-36.

4. Celermajer et al. Ebstein’s anomaly: presentation and outcome from fetus to adult. JACC 1994;23:170-6.

Ebstein’s Anomaly: Ebstein’s Anomaly: ConclusionsConclusions

Displacement index of > 8 mm/m2 is a Displacement index of > 8 mm/m2 is a sensitive predictor of Ebstein’ssensitive predictor of Ebstein’s

RV impairment dependant on: RV impairment dependant on: Extent of atrialized inflowExtent of atrialized inflow Magnitude of TRMagnitude of TR

Infants MC present with cyanosisInfants MC present with cyanosis Adults MC present with arrhthmiaAdults MC present with arrhthmia Mortality in unoperated adults is high, most Mortality in unoperated adults is high, most

commonly from heart failurecommonly from heart failure Predictors of Death Predictors of Death

Male sexMale sex CT ratio > 0.65CT ratio > 0.65 NYHA III or IVNYHA III or IV BreathlessnessBreathlessness

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Ebsteins Anomaly