Ebstein’s anomalyEbstein’s anomaly

Polina PetrovicPolina Petrovic

July 2007July 2007

DefinitionDefinition

Congenital cardiac malformation characterized Congenital cardiac malformation characterized by apical displacement of septal and posterior by apical displacement of septal and posterior tricuspid valve leafletstricuspid valve leaflets

Anterior leaflet is normal because formed earlier Anterior leaflet is normal because formed earlier in cardiac developmentin cardiac development

Resulting in atrialization of RV with small Resulting in atrialization of RV with small functional right ventricle functional right ventricle

Associated with intracardiac shunts (ASD (50%), Associated with intracardiac shunts (ASD (50%), PFO), valvular lesions, and 25% accessory PFO), valvular lesions, and 25% accessory conduction pathways (WPW).conduction pathways (WPW).

http://www.mayoclinic.org/ebsteins-anomaly/abnormalities.html

Apical displacement of the septal and posterior leaflets of the tricuspid valve (arrowhead) Apical displacement of the septal and posterior leaflets of the tricuspid valve (arrowhead) from the atrioventricular junction (arrows). Dilated right atrium from the atrioventricular junction (arrows). Dilated right atrium (RA)(RA), atrialized right , atrialized right

ventricle ventricle (ARV)(ARV), and functional right ventricle , and functional right ventricle (FRV)(FRV)..

http://radiographics.rsnajnls.org/content/vol23/issue90001/images/large/g03oc03g20x.jpeg

Associated anomaliesAssociated anomalies

Intracardiac shunts – 50% ASDIntracardiac shunts – 50% ASD Accessory conduction pathways (WPW) – 25%Accessory conduction pathways (WPW) – 25%

Think of Ebstein’s when:Think of Ebstein’s when: Cyanotic congenital heart diseaseCyanotic congenital heart disease Severe RHFSevere RHF Isolated severe TRIsolated severe TR L-transposition of great vesselsL-transposition of great vessels VSDVSD Pulmonary stenosis or atresia with intact Pulmonary stenosis or atresia with intact

ventricular septumventricular septum

ConsequenceConsequence

Malformation of tricuspid valve cause TR Malformation of tricuspid valve cause TR of variable severityof variable severity

Discordant contraction of atrialized RV – Discordant contraction of atrialized RV – which contracts with remainder of ventricle which contracts with remainder of ventricle accentuating TRaccentuating TR

Can lead to right heart dysfunction/failure.Can lead to right heart dysfunction/failure.

Leftward bowing of septum during systole due to increased RV Leftward bowing of septum during systole due to increased RV pressurepressure

http://radiology.rsnajnls.org/cgi/content/full/231/3/747/F3B?ck=nck

EpidemiologyEpidemiology

Incidence 0.5-0.7% in patients with Incidence 0.5-0.7% in patients with congenital heart disease, but likely highercongenital heart disease, but likely higher

Associations – children of Caucasian Associations – children of Caucasian females, maternal Lithium in first trimesterfemales, maternal Lithium in first trimester

Less well documented associations – Less well documented associations – maternal benzodiazepine use, exposure to maternal benzodiazepine use, exposure to varnishing substances, previous fetal lossvarnishing substances, previous fetal loss

Also associated with Turner’s, Down’s, Also associated with Turner’s, Down’s, and Marfan’sand Marfan’s

Disease courseDisease course

Approximately 50% present with cyanosis Approximately 50% present with cyanosis and RHF in infancyand RHF in infancy

Remaining 50% have murmur and Remaining 50% have murmur and abnormal CXR but initially asymptomaticabnormal CXR but initially asymptomatic

Become symptomatic later in lifeBecome symptomatic later in life50 % survival at age 4750 % survival at age 47

Disease course post infancyDisease course post infancy

Common presenting Common presenting symptoms:symptoms:

Dyspnea on exertionDyspnea on exertion Palpitations from SVT Palpitations from SVT

20-30%20-30% Right heart failureRight heart failure Cyanosis, ventricular Cyanosis, ventricular

arrhythmiasarrhythmias

Uncommon presenting Uncommon presenting symptoms:symptoms:

Brain abscess from R Brain abscess from R L shuntL shunt

Bacterial endocarditisBacterial endocarditis Paradoxical emboli, Paradoxical emboli,

stroke, TIAstroke, TIA

Management - MedicalManagement - Medical

For perinatal cyanosis – waitFor perinatal cyanosis – wait If severe, PGE for duct patency and Nitrous If severe, PGE for duct patency and Nitrous

Oxide to lower pulmonary vascular resistanceOxide to lower pulmonary vascular resistance Persistent cyanosis in >1wk old suggests Persistent cyanosis in >1wk old suggests

additional pulmonary stenosis or atresiaadditional pulmonary stenosis or atresia Arrhythmias: usually treated with ablationArrhythmias: usually treated with ablation RHF in older children can be treated with digoxin RHF in older children can be treated with digoxin

or diuretics but it is usually indication for surgical or diuretics but it is usually indication for surgical interventionintervention

Management – SurgicalManagement – Surgical Wait till pulmonary vascular resistance Wait till pulmonary vascular resistance

decreasesdecreases If continuing cyanosis (O2 < 75%) treatment with If continuing cyanosis (O2 < 75%) treatment with

Blalock-Taussig shunt (PA to Subclavian artery)Blalock-Taussig shunt (PA to Subclavian artery) If hypoxemia still problemIf hypoxemia still problem Glenn anastamosis – SVC to R pulmonary arteryGlenn anastamosis – SVC to R pulmonary artery Fontan – oversew TV and close PFO so all Fontan – oversew TV and close PFO so all

systemic venous return goes to pulmonary systemic venous return goes to pulmonary arteries and bypasses right heartarteries and bypasses right heart

Tricuspid valve reconstruction/prosthesis – most Tricuspid valve reconstruction/prosthesis – most common.common.

http://images.healthcentersonline.com/heart/images/article/FontanStages5(yippee).jpg

DDxDDx

Uhl anomaly – hypoplastic, Uhl anomaly – hypoplastic, underdeveloped inflow segment of right underdeveloped inflow segment of right ventricle with tricuspid leaflets arising from ventricle with tricuspid leaflets arising from annulusannulus

Imaging FindingsImaging Findings

CXR findingsCXR findings- NormalNormal- CardiomegalyCardiomegaly- Small aortic root and MPA shadowSmall aortic root and MPA shadow- Decreased pulmonary vasculatureDecreased pulmonary vasculature- Large RALarge RA

CT and MR findingsCT and MR findings

Right sided enlargement and normal pulmonary vasculature

BibliographyBibliography

Am. J. Roentgenol.Am. J. Roentgenol. DEUTSCH et al. 125 (2): DEUTSCH et al. 125 (2): 395. 395.

http://www.emedicine.com/med/topic627.htmhttp://www.emedicine.com/med/topic627.htm http://www.emedicine.com/radio/topic228.htmhttp://www.emedicine.com/radio/topic228.htm The Heart. 10The Heart. 10thth ed. Fuster V, Alexander R, ed. Fuster V, Alexander R,

O’Rourke R. McGraw Hill 2001. 1878-1880O’Rourke R. McGraw Hill 2001. 1878-1880 Cardiac Imaging in Infants, Children, and Adults. Cardiac Imaging in Infants, Children, and Adults.

Elliot, L. JB Lippincott Company 1991. 735-742Elliot, L. JB Lippincott Company 1991. 735-742 http://content.onlinejacc.org/cgi/content/http://content.onlinejacc.org/cgi/content/

abstract/23/5/1194abstract/23/5/1194