Ebstein’s anomaly with total anomalous pulmonary venous connection in an adult

Abstract

Ebstein’s anomaly is a rare congenital cardiac disease which is often associated with various other cardiac anomalies. However, its association with total anomalous pulmonary venous connection is extremely rare with only one case reported so far in the English literature. We report the first successful surgical correction of both Ebstein’s anomaly and total anomalous pulmonary venous connection in an adult patient. Such complex scenarios may pose unique challenges in management which require a judicious approach.

Supplementary information

The online version contains supplementary material available at 10.1007/s12055-023-01664-8.

Introduction

Ebstein’s anomaly (EA) is a rare disease which constitutes less than 1% of all the congenital cardiac disorders [1]. It is characterized by failure of delamellation of the tricuspid valve leaflets leading to a wide spectrum of morphological severity. EA is known to occur in association with a variety of other cardiac anomalies, most commonly an atrial septal defect (ASD) [1]. However, association of EA with a pulmonary venous disorder like total anomalous pulmonary venous connection (TAPVC) is extremely rare.

A detailed literature review using electronic databases including MEDLINE and Embase from inception until August 2023 has revealed only one case report of EA in association with TAPVC [2]. The search terms used included “Ebstein’s anomaly”, “total anomalous pulmonary venous return”, and “Ebstein’s anomaly” AND “total anomalous pulmonary venous return”. However, the repair of EA was not performed in this case as the disease was mild. The patients with TAPVC rarely survive beyond infancy into adulthood [3]. Literature on TAPVC in adults is also limited, constituted mainly by isolated case reports and small case series [3].

We report successful surgical management of a young adult patient who had EA with supracardiac TAPVC. Although such an association has been reported once before, complete surgical correction of both the anomalies in coexistence has not been published so far in the English literature.

Case report

A 21-year-old female presented with symptoms of dyspnea on exertion and easy fatiguability (New York Heart Association (NYHA) class III currently) of 10 years duration. On general examination, she had grade II clubbing and peripheral oxygen saturation of 88%. On cardiac examination, she had epigastric pulsations, widely split second heart sound, and a pan systolic murmur over the left lower parasternal area.

On investigation, chest X-ray showed cardiomegaly and a right para-cardiac opaque lesion near the hilum, continuous with the cardiac shadow (Online Resource 1). Electrocardiogram (ECG) showed right bundle branch block and right atrial enlargement, and there was no evidence of any accessory pathway. Echocardiographic evaluation revealed situs solitus, levocardia, large ostium secundum ASD (right to left shunt), enlarged right atrium and right superior vena cava (SVC), supra cardiac TAPVC, and EA. The pulmonary artery systolic pressure was estimated to be 55 mmHg. The tricuspid valve showed tethered septal and posterior leaflets with apical displacement of its attachment, 3 cm below the level of the true annulus. Anterior leaflet was large and sail like. There was severe tricuspid regurgitation. The functional right ventricle (RV) was adequate in size, comprised two-thirds of the RV body, the apex, and the outflow tract. These features were consistent with Carpentier’s type B disease.

A cardiac magnetic resonance imaging (MRI) was done which revealed detailed anatomy of TAPVC (Online Resource 2 to 5). The left pulmonary veins joined to form a common chamber which continued as the right vertical vein ascending towards the right pulmonary veins. Immediately after the joining of the right pulmonary veins, the vertical vein became aneurysmally enlarged to form a venous chamber of the size 4 × 5 cm. This venous chamber opened into the posterior wall of the aneurysmally dilated SVC through a mouth of 3-cm diameter, at a distance of 2 cm above the SVC-right atrial junction. MRI also revealed the morphological features of the tricuspid valve and RV, similar to what was described in echocardiography and confirmed the adequacy of the functional RV to sustain a cone repair of the tricuspid valve (Figs. 1 and 2). RV outflow tract and main and branch pulmonary arteries were dilated. Mitral, aortic, and pulmonary valves were normal. Functional MRI was used to estimate pulmonary to systemic blood flow ratio (Qp/Qs), which was 6:1. This, along with brisk pulmonary venous return in echocardiogram and peripheral oxygen saturation of 88%, suggested that the patient was operable.

Fig. 1.

Magnetic resonance imaging—coronal view. (a) Dilated superior vena cava, (b) common chamber, and (c) atrialized right ventricle

Fig. 2.

Diagrammatic representation. SVC, superior vena cava; CC, common chamber; FO, fossa ovalis; ASD, atrial septal defect; CS, coronary sinus; ARV, atrialized right ventricle; FRV, functional right ventricle; SL, septal leaflet

The patient underwent complete surgical correction. Aortic, innominate vein, and inferior vena caval cannulation was done to achieve cardiopulmonary bypass. The heart was arrested using antegrade, cold, blood cardioplegia given through the aortic root. The right atrium was opened, and the SVC was opened along its entire length. Anatomical findings were confirmed. The septal and the posterior tricuspid leaflets were mobilized from the underlying RV wall. All the restrictive non-primary chordae and muscular attachments of the leaflets were cut retaining the RV apical attachments and a cone was formed by suturing the septal leaflet edge to the anterior leaflet edge after appropriate clockwise rotation. This cone was then sutured to a 5-mm pericardial strip all along its circumference using 6–0 polypropylene suture. This pericardial buttress was then sutured to the true annulus using 5–0 polypropylene suture (Fig. 3). Following this, annuloplasty was done using hard polytetrafluoroethylene felt incomplete ring. Saline insufflation of the valve showed fair competence.

Fig. 3.

Intraoperative picture after cone repair of the tricuspid valve with the pericardial strip between the leaflets and the annulus

The ASD was present on the upper half of the fossa ovalis and it was enlarged by cutting the superior limbus towards the SVC. The cut margins were suture reinforced. The adjacent left atrial roof was opened widely. Via a superior approach between the SVC and the aorta, the common chamber was opened widely and the left atrium to common chamber anastomosis was done by continuous 5–0 polypropylene suturing. The SVC opening of the common chamber was also baffled to the left atrium through the ASD using a long, autologous, fresh pericardial patch. The enlarged SVC was reconstructed primarily. The right atrium was closed. The heart was de-aired and the aortic cross-clamp was removed. The atrialized RV was plicated longitudinally on the diaphragmatic surface preserving the coronaries. Cardiopulmonary bypass was weaned off and trans-esophageal echocardiography showed mild eccentric tricuspid regurgitation and good RV function. Total clamp time and bypass time were 143 min and 172 min, respectively.

The patient was extubated after 16 h of the surgery and inotropes were weaned off by second postoperative day. The postoperative period was uneventful. The duration of intensive care unit (ICU) stay was 5 days and the postoperative hospital stay was 9 days. At the end of 1 year, the patient was asymptomatic and echocardiography and MRI showed moderate tricuspid regurgitation.

Discussion

The natural history and prognosis of the patients with EA are significantly altered by the presence of major associated cardiac anomalies [4]. In 80 to 94% of the cases, an ASD is present [1, 4]. Major associated anomalies include pulmonary stenosis, pulmonary atresia or hypoplasia, ventricular septal defect (VSD), patent ductus arteriosus (PDA), mitral valve prolapse or dysplasia, coarctation of the aorta, bicuspid or atretic aortic valve, and left ventricular non-compaction, and these can be present in up to one-third of the cases [1, 4]. However, pulmonary venous disorders like cor triatriatum, partial or total anomalous venous connection, and pulmonary vein stenosis very rarely associate with EA [5]. Two cases of such coexistence have been reported including one with TAPVC and another with obstructive pulmonary venous return [2, 6]. TAPVC is also seen in association with various anomalies like PDA, VSD, pulmonary stenosis, tetralogy of Fallot, and coarctation, but its occurrence with EA is probably by chance alone, as these lesions do not share any common genetic etiology [2].

The spectrum of morphological severity of EA can vary and the most severe forms present in the neonatal and the early infantile period with poor prognosis, whereas milder variants survive to adolescence and adulthood [4]. The survival of TAPVC patients to adulthood depends on certain factors like the presence of a large ASD, unobstructed pulmonary venous drainage, near normal pulmonary vascular resistance, and normal left ventricular end diastolic pressure allowing a good right to left shunt to maintain systemic cardiac output [7]. Although both the lesions in our case had favorable features for survival into adulthood, a pre-tricuspid admixture lesion like TAPVC could have exacerbated the hemodynamic effects of EA leading to significant RV volume overload and earlier presentation. However, our patient presented late and remained undiagnosed until early adulthood.

Echocardiogram is a good preliminary diagnostic investigation for both TAPVC and EA, whereas cardiac MRI can be used for further anatomical delineation and better quantification of the volume and function of RV if required [5]. Volume estimation of the RV and quantification of tricuspid regurgitation in a case of EA will be exaggerated in the presence of pre-tricuspid shunts or admixture lesions like TAPVC and this should be kept in mind while taking important surgical decisions [2]. Functional MRI can be used to calculate Qp/Qs which would give a rough idea about the operability in a case of adult TAPVC. However, in doubtful cases, a cardiac catheterization study should be done.

We did a cone repair for EA as it achieves valve repair at the level of the true annulus with a central diastolic flow and full coaptation [8]. We routinely suture a 5-mm strip of autologous pericardium to the circumference of the cone which is then sutured to the annulus. The size of the strip can be increased to augment the cone if there is significant discrepancy between the cone circumference and the annulus. The use of pericardial strip increases stability of suture line at the annulus and prevents disruption of fragile leaflet tissue which may occur with ventricular contraction. This is especially true when there are associated pre-tricuspid shunts or admixture lesions, where the ventricle has to contract against a higher pulmonary artery pressure. Also, a bidirectional Glenn surgery, often used in cases of severe EA, is contraindicated in such cases due to high pulmonary artery pressure. Judicious use of surgical techniques ensures optimal results in such complex scenarios.

Supplementary information

Below is the link to the electronic supplementary material.

Author contribution

JV is the first author who wrote the manuscript and assisted in the surgery. MV is the chief anesthetist who was present in the case and guided in the writing of the manuscript. AS is a senior pediatric cardiologist who referred the case and made relevant corrections in the manuscript. HVJK is the surgical unit chief who performed the surgery and is the corresponding author.

Funding

None.

Declarations

Ethics approval

All procedures performed in this case were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Patient consent

Informed written consent was obtained from the patient prior to the study. Written consent was also obtained for the publication of the case report.

Conflict of interest

The authors have no conflicts of interest to disclose.