Severe Ebstein’s Anomaly with Ventricular Communications and Wolff-Parkinson-White Syndrome Presenting with Excess Pulmonary Blood Flow and Congestive Heart Failure

Abstract: Ebstein’s anomaly, a rare cardiac malformation of the tricuspid valve, and ventricular communication is an unusual association. We present an infant with Ebstein’s anomaly and ventricular communications that permitted excess pulmonary blood flow in neonatal period. The size, location and number of ventricular defects affect the increase in pulmonary blood flow. 

Key words: Ebstein’s anomaly, ventricular communication, pulmonary blood flow, congestive heart failure.

Introduction

Ebstein’s anomaly (EA) is a rare congenital heart disorder that typically includes apical displacement and adherence to the underlying myocardium of the septal and posterior leaflets of the tricuspid valve.¹ However, in normal human hearts, there is some downward displacement of the septal and posterior tricuspid leaflets relative to the anterior mitral leaflet, but always <0.8 cm/m² body surface area.²

Overall, approximately 14–20% of EA patients will have one or more accessory conduction pathways with Wolff-Parkinson-White syndrome.³ Associated cardiac lesions are uncommon⁴ and ventricular septal defect (VSD) is a very rare association.^5-7 We reported an infant with severe EA, VSDs and Wolff-Parkinson-White (WPW) syndrome. 

Case report

A 2-month-old girl was referred to our clinic because of mild cyanosis and hepatomegaly. She was born at 38 weeks of gestation by normal vaginal delivery. The family history did not reveal any cardiac defect and her mother took no teratogenic drugs or medications during pregnancy. The mother did not have regular prenatal care. The girl’s birth weight was 3.2 kg and her Apgar scores at 1 and 5 minutes were 8 and 10, respectively. The initial examination at the time of referral revealed pansystolic murmur at the left sternal border and hepatomegaly. Other physical examination findings were all normal. She had mild cyanosis with 86% oxygen saturation, and an electrocardiogram demonstrated a left QRS axis deviation, left ventricular hypertrophy and a short PR duration with delta wave, showing WPW syndrome (Figure 1).

The chest x-ray showed cardiomegaly and increased pulmonary vascularity, with a cardiothoracic ratio of 0.67. An echocardiogram revealed severe EA and the Great Ormond Street Score was 1.52, grade 4.8 [The Great Ormond Street Score shows the ratio of the combined area of the right atrium and atrialized right ventricle to that of the functional right ventricle and left heart in a four-chamber view at end-diastole (Figure 2A).]

Severe tricuspid insufficiency (Figure 2B), a right-to-left shunt across the secundum atrial septal defect (5mm) (Figure 3A), muscular and perimembranous VSDs with a left-to-right shunt and enlarged left ventricle with end-diastolic diameter of 26 mm (<23 mm) were also diagnosed (Figure 3B). Flow across VSDs entered the small part of right ventricle just below the tricuspid valve and pulmonary valve, respectively. Congestive heart failure developed with excess pulmonary blood flow that was treated with diuretics and digitalis. When she was 3 months old, cardiac catheterization was performed, because of the persistence of congestive heart failure despite the treatment [diuretics, angiotensin-converting-enzyme (ACE) inhibitors, dopamine and dobutamine]. There was increased pressure in the right ventricle and pulmonary arteries (Figure 4). However, a right-to-left shunt was still present across the atrial septal defect. She underwent cardiac surgery, the perimembranous VSD was corrected with a valvular patch, and the tricuspid valve was repaired. The atrial septal defect was partially closed; it was left open to allow pop off. Unfortunately, the outcome was aberrant; the patient had multiple arrhythmia episodes and died during extracorporeal membrane oxygenation.    

Discussion

The major hemodynamic alteration in EA is reduction in forward pulmonary blood flow due to tricuspid valve localization and dysfunction. The clinical presentation is dependent on age at diagnosis and degree of hemodynamic disturbance, which is dependent on the extent of displacement of the tricuspid valve leaflets, the size and function of the right ventricle, right atrial pressure, degree of right-to-left interatrial shunting, and associated cardiac defects.^4,8 The cardinal symptoms are cyanosis, right-sided heart failure, and arrhythmias. Mortality rates can be as high as 54% during the first month of life.⁸ Also, the major risk factors for death are severe tricuspid valve dysfunction, inadequate right ventricle, and presence of arrhythmias, usually WPW syndrome.⁷ Among all associated lesions, atrial septal defect is the most frequent.^3,4,8,9 However, isolated VSD is an even more rare association.^4-8 

In a neonate, a cardiothoracic ratio >0.85 and a Great Ormond Street Score of grade 3 or 4, associated with cyanosis and severe tricuspid regurgitation, predicts neonatal death without surgery.¹⁰ Surgical repairs in neonates have consisted of tricuspid valve repair, reduction atrioplasty, relief of right ventricular outflow tract obstruction, partial closure of atrial septal defect, and correction of all associated cardiac defects. Also, small or restrictive VSDs may permit the infants to survive the risky neonatal period due to adequate pulmonary blood flow that was continued by the left-to-right shunt across the VSD, instead of leading to congestive heart failure.⁷ 

Ventricular communications permitted our patient to survive the neonatal period without any surgical intervention. However, the lesions led to excess pulmonary blood flow and congestive heart failure. The large and multiple ventricular communications required early surgical closure of these defects to avoid early heart failure in EA. 

Disclosure: The authors report no financial relationships or conflicts of interest regarding the content herein. 

The authors may be contacted via Dr. Hayrullah Alp at drhayrullahalp@hotmail.com.

This article received a double-blind peer review from members of the Cath Lab Digest editorial board.

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