A Case of Late Presentation of Supracardiac Total Anomalous Pulmonary Venous Connection in an Adult

Abstract

Total anomalous pulmonary venous connection (TAPVC) is a rare cyanotic congenital heart disease and their survival into adulthood is even rarer. Here, we present the case of a 26-year-old female who was incidentally diagnosed with a case of supracardiac TAPVC during her pregnancy. All four pulmonary veins were joining to form a common venous confluence which drained into a left-sided vertical vein which drained into the innominate vein.

INTRODUCTION

Total anomalous pulmonary venous connection (TAPVC) is a rare cyanotic congenital heart anomaly occurring in approximately 0.6–1.2/10,000 live births.[1,2] It was first described by Wilson in 1798. In TAPVC, all pulmonary veins from both lungs drain anomalously into the right atrium (RA) through different routes, i.e., supracardiac, cardiac, infracardiac, or mixed. Supracardiac TAPVC is the most common variant.[3] TAPVC surviving into the adulthood is extremely rare and is usually associated with a large ostium secundum atrial septal defect (OSASD).

CASE REPORT

A 25-year-old female, an incidentally diagnosed case of TAPVC during her pregnancy, presented to us in the outpatient department. She had a history of dyspnea on exertion New York Heart Association grade II for the past 2 years, which was associated with paroxysmal nocturnal dyspnea and orthopnea. She however did not get herself evaluated for these complaints.

She had a history of recurrent miscarriages, a total of 3 in number. The first two at 2 months of gestation and 3^rd one at 3 months of gestation. During her fourth pregnancy on routine checkup in the third trimester, she was diagnosed with a case of TAPVC. She underwent an elective cesarean section (CS) at 28 weeks of gestation. She presented to us in the outpatient department after a month of CS for surgical repair.

A transthoracic echocardiography (TTE) was performed: Apical four-chambered view showed a dilated RA and right ventricle. The left atrium (LA) was diminutive. The left ventricle (LV) was adequately sized. There was a large OSASD measuring 35 mm in diameter [Figure 1]. Inset shows a chest X-ray with a classical snowman appearance.

Figure 1.

Preoperative transthoracic echocardiography (apical four chamber view). RV = Right ventricle, LV = Left ventricle, RA = Right atrium, LA = Left atrium, *Marks the common venous chamber

Transesophageal echocardiography (TEE) was then performed: The midesophageal bicaval view showed a hugely dilated RA and a small LA with a large OSASD in between with right to left shunt [Figure 2].

Figure 2.

Preoperative transesophageal echocardiography (mid-esophageal bicaval view). RA = Right atrium, LA = Left atrium, ASD = Atrial septal defect, TV = Tricuspid valve

TEE showing common vertical vein being drained into LA through a posterior anastomosis [Figure 3 and Video 1].

Figure 3.

Postoperative transesophageal echocardiography image showing common venous confluence draining into left atrium. LA = Left atrium, VV = Vertical vein

Cardiac computed tomography (CT) was performed: Transverse, sagittal, and coronal sections revealed a hugely dilated left-sided vertical vein draining all the pulmonary veins into the left innominate vein. The vertical vein was posterior to the main pulmonary artery and then joined a dilated left innominate vein which finally drained into the RA [Figure 4]. Three-dimensional (3D) reconstruction shows the relations of the vertical vein [Figure 5].

Figure 4.

Cardiac computed tomography: Showing the relations of vertical vein and surrounding structures in all three views (axial, coronal, sagittal). RV = Right ventricle, LV = Left ventricle, RA = Right atrium, LA = Left atrium, VV = Vertical vein, AO = Aorta, RPA = Right pulmonary artery, SVC = Superior vena cava, MPA = Main pulmonary artery

Figure 5.

Cardiac computed tomography three-dimensional reconstruction, VV = Vertical vein, AO = Aorta, SVC = Superior vena cava, MPA = Main pulmonary artery

Diagnostic catheterization was done to assess operability and it revealed moderate pulmonary arterial hypertension (PAH) with pulmonary vascular resistance of three wood units; hence, the patient was deemed operable. Subsequently, successful TAPVC repair was done.

DISCUSSION

The natural history of TAPVC is quite grim. Ninety percent of patients usually die within the 1^st year of life. The mortality is high in patients presenting with PAH and vertical vein obstruction.[4] Survival into adulthood is rare. Such patients usually have an associated un-restrictive large OSASD with right-to-left shunt and a large draining vertical vein without stenosis.[5]

Diagnosing TAPVC in an adult remains a challenge. It is easily misdiagnosed with a large OSASD as symptoms are similar, i.e., shortness of breath,[6] atypical chest pain,[7] and palpitations. A small LA and a large right-to-left shunt in the atrial septal defect, as seen in echocardiography, point toward a diagnosis of a TAPVC.[6]

A large common chamber with draining pulmonary veins abutting the LA raises strong suspicion of either a TAPVC or a cor-triatriatum. However, the presence of a connection between the common chamber and the LA differentiates a cor-triatriatum from a TAPVC.

Echocardiography can differentiate between the types of TAPVC and in many cases can also reveal the relation of the draining vertical vein with the adjacent structures. Echocardiographic views used in adult TAPVC are as follows: The apical four chamber view, parasternal view, and suprasternal view. Common chamber with its draining pulmonary veins and OSASD can be assessed in the subcostal view and apical view. The vertical vein can be easily seen in the suprasternal view lying adjacent to the descending thoracic aorta. On application of Color Doppler, flow in the vertical vein will appear red (towards probe/toward innominate vein) and flow in the descending thoracic aorta will appear blue (away from probe/towards lower body). On further probing with spectral Doppler flow pattern of the artery and pulmonary vein will be seen.

Echocardiography has a comparable sensitivity (97.6%) and specificity (99.9%) in diagnosing TAPVC compared to CT.[8] TEE can assess the LA and enlarged vertical vein draining the common chamber (in mid-esophageal four chamber view) which is separated from the LA by a membrane [Table 1].[9]

Table 1.

Echocardiography in total anomalous pulmonary venous connection: Points to be assessed

Diameter of individual pulmonary veins and the narrowest dimension of the pulmonary venous confluence

Anatomic relation of vertical vein with adjacent structures

Anatomic relation of pulmonary venous confluence and left atrium

Course of vertical vein and its relation with pulmonary arteries

To diagnose the type of TAPVC

Degree of RV volume overload

TAPVC=Total anomalous pulmonary venous connection, RV=Right ventricle

TTE and TEE add to each other in providing the detailed anatomy of TAPVC and hence direct the surgical plan. TEE (in mid-esophageal four chamber view) in the postoperative period is quite helpful in diagnosing stenosis of the venous baffle or anastomosis between venous confluence and LA.[10] Tricuspid regurgitation and pulmonary artery pressure are assessed in the mid-esophageal four-chamber view.

As the LA was inherently small before repair and the LV was not used for normal pulmonary venous drainage, repair may lead to LV diastolic dysfunction in the immediate postoperative period. If diastolic dysfunction is present, then remedial measures such as nitroglycerin and milrinone should be administered. Left ventricular dysfunction leading to mitral regurgitation can also be assessed [Table 2].[11]

Table 2.

Echocardiography posttotal anomalous pulmonary venous connection repair: Points to be assessed

Site and size of anastomosis

Gradient across the anastomosis

Pulmonary artery pressure

Ventricular function

Associated valvar lesions

Pericardial effusion

CT angiography remains the gold standard investigation to visualize the 3D anatomy of the anomaly.[8]

CONCLUSION

The case we reported highlights that TAPVC can present in adults with minimal complaints very similar to a case of a large OSASD. TTE and TEE can be used to differentiate between the two and also to show the anatomical variant of TAPVC. Echocardiography can also define the relation of the vertical vein to plan a successful surgical repair.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.