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Congenital extrahepatic portosystemic shunt with partial anomalous pulmonary venous return and aneurysmal dilation of the pulmonary artery: successful management of a complex multisystem congenital anomaly

Published online by Cambridge University Press:  08 October 2025

Sweta MohantyOpen the ORCID record for Sweta Mohanty[Opens in a new window],
Shreesha Maiya and
Dheeraj Kumar Tiwari
Sweta Mohanty*
Affiliation:
Pediatric Cardiology, Narayana Health, Bengaluru, India
Shreesha Maiya
Affiliation:
Pediatric Cardiology, Narayana Health, Bengaluru, India
Dheeraj Kumar Tiwari
Affiliation:
Interventional Radiology, Narayana Health, Bengaluru, India
*
Corresponding author: Sweta Mohanty; Email: doctorsweta@yahoo.com
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Abstract

Congenital extrahepatic portosystemic shunt (CEPS) is an uncommon condition in which the portal vascular system drains into the systemic veins. We describe an unusual case of CEPS with congenital heart disease, presenting with aneurysmal enlargement of the pulmonary artery and symptoms of airway compression, highlighting the importance of evaluating for additional pathology in case of unexplained oxygenation defect or pulmonary hypertension.

Keywords

Portosystemic shuntaneurysmal pulmonary arterytranscatheter closure

Information

Type
Case Report
Information
Cardiology in the Young , Volume 35 , Issue 11 , November 2025, pp. 2350 - 2352
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

Introduction

Congenital extrahepatic portosystemic shunt (CEPS) or Abernethy malformation is an uncommon condition in which the portal vascular system drains into the systemic veins, bypassing the liver. CEPS can have variable manifestations involving the gastrointestinal, endocrine, neurocognitive, urogenital, or other systems Reference Bahadori, Kuhlmann and Debray1 which present a diagnostic dilemma. Cardiopulmonary manifestations include hepatopulmonary syndrome, pulmonary hypertension (PH), or high-output cardiac failure.

We describe the successful, staged, multidisciplinary management of an unusual case of CEPS with congenital heart disease, aneurysmal enlargement of the main pulmonary artery (MPA), and severe PH.

Case report

A 24-year-old male, status-post surgical atrial septal defect (ASD) closure performed elsewhere 14 years prior, the details of which were unavailable, presented with progressive dyspnoea on exertion (NYHA Class II) and intermittent chest pain of several months’ duration.

Oxygen saturation was 93%. There was a wide variable splitting of the second heart sound with an accentuated pulmonary component and a Grade II ejection systolic murmur at the upper left parasternal border, with no radiation. Electrocardiography showed right axis deviation with right ventricular (RV) forces. Transthoracic echocardiography revealed severe PH, a massively dilated main MPA (diameter 118 mm) and branch pulmonary arteries with spontaneous echo contrast, partial anomalous pulmonary venous connection (PAPVC) of bilateral upper pulmonary veins, and RV dysfunction.

CT scan was performed to exclude pulmonary thromboembolism and to better define the anatomy (Figure 1) and demonstrated aneurysmal dilatation of the main and branch pulmonary arteries, displacement of the distal trachea to the right with compression, and significant luminal narrowing of the carina and proximal bronchi. The left upper pulmonary veins (LUPV) drained anomalously into the innominate vein and the right upper pulmonary veins (RUPV) into the superior vena cava (SVC).

Figure 1.

CT Angiographic axial ( a ), coronal ( b ) and 3D MPR views ( c-f ). ( a ) Dilated main pulmonary artery, compression of carina and right bronchus, partial anomalous drainage of right upper pulmonary veins to SVC. ( b ) Compression of left bronchus. ( c ) Partial anomalous drainage of left upper pulmonary veins to innominate vein. ( d ) Small calibre porta vein. ( e-f ) Drainage of portal and mesenteric veins into left renal vein via Abernethy malformation. HAP = hepatic artery proper, IV = innominate vein, LB = left bronchus, LUPV = left upper pulmonary vein, MPA = main pulmonary artery, MV = mesenteric veins, PV = portal vein, RB = right bronchus, RUPV = right upper pulmonary vein, RV = left renal vein, S = portosystemic shunt, SVC = superior vena cava.

Incidentally, CT angiography revealed a diffusely small-calibre portal vein, with drainage of spleno-porto-mesenteric confluence to the left renal vein and subsequently to the inferior vena cava (IVC), consistent with Abernethy malformation Type 2.

Cardiac MRI, done for functional evaluation, demonstrated a dilated right atrium with severe tricuspid regurgitation, a non-dilated left ventricle with a left ventricular ejection fraction (EF) of 50%, a dilated RV with EF of 43%, and Qp:Qs of 1.47, in addition to the above.

Interventional closure of the Abernethy malformation was planned to address the portosystemic shunt. Surgical redirection of PAPVC along with excision of MPA aneurysm was planned at a later stage.

Cardiac catheterisation demonstrated MPA pressure to be 70/ 24 mm Hg (mean 47 mm Hg) as compared to a simultaneous aortic pressure of 108/66 mm Hg (mean 80 mm Hg), RV end-diastolic pressure of 10 mm Hg, pulmonary-to-systemic flow ratio (Qp/Qs) of 2.33, indexed pulmonary vascular resistance (PVR) of 6.51 Wood units.m2 and pulmonary-to-systemic vascular resistance ratio (PVR:SVR) of 0.22. (MPA pressure may have been underestimated in the presence of RV dysfunction). Vasoreactivity testing with 100% oxygen and intravenous sildenafil demonstrated a reduction in PVRi to 3.45 Wood units.m2 and a PVR:SVR ratio of 0.15, indicating preserved pulmonary vascular reactivity.

The CEPS was accessed via the right femoral venous approach. Angiography revealed that the splenic vein and superior mesenteric vein formed a common channel draining into the left renal vein, with a small-calibre portal vein arising from this shunt. Baseline pressure in the superior mesenteric vein was 18 mmHg, which increased to 28 mmHg during balloon occlusion. On-table ultrasound showed adequate portal venous flow. Device closure was subsequently performed using a 24 × 30-mm ventricular septal defect occlusion device deployed just distal to the origin of the renal vein. Via jugular access, the shunt was then accessed, a 12 F Mullin sheath was placed with its tip in the left renal vein shunt, and venograms were taken. Multiple venographic runs confirmed successful shunt closure without leak (Figure 2). No immediate procedural complications occurred, and immediate improvement in portal flow was observed.

Figure 2.

( a ) Angiogram showing Abernethy malformation draining into left renal vein and subsequently, IVC. ( b ) Portal vein run showing no contrast leak through device. ( c ) Renal vein run with device in situ. D = device, IVC = inferior vena cava, MV = mesenteric vein, PV = portal vein, RV = left renal vein, S = portosystemic shunt.

A week after shunt closure, ultrasound demonstrated normal portal vein calibre with hepatopetal flow. Intrahepatic portal vein velocity was 35 cm/second, and extrahepatic portal vein velocity was 54 cm/second. Hepatic veins and arteries demonstrated good flow.

Follow-up echocardiography showed moderate PH (estimated mean PA pressure 35 mm Hg) and persistent spontaneous echo contrast in the aneurysmal MPA. Six months following CEPS occlusion, the patient underwent atrial septectomy, re-routing of RUPV to the left atrium across ASD, re-routing of LUPV to the left atrium, excision of MPA aneurysm with re-anastomosis, and tricuspid valve repair.

The postoperative course was complicated by persistent PH, bronchospasm, hypercapnia, necessitating tracheostomy, and frequent ventricular ectopic beats. After 3 weeks, tracheostomy decannulation could be achieved. He was discharged on pulmonary vasodilator therapy (Sildenafil 25 mg three times a day, Bosentan 31.25 mg twice daily), diuretics, and antiarrhythmic medications (Amiodarone 100 mg twice daily, in view of frequent bigeminy). At 10-month follow-up, the patient was asymptomatic, NT-pro-BNP levels had normalised, echocardiography demonstrated unobstructed pulmonary venous return and mild PH (estimated PA systolic pressure 47 mm Hg), and Holter monitoring showed ventricular ectopic burden < 2%. MRI showed non-dilated LV with normalisation of EF and Qp/Qs of 1.

Discussion

This case represents a rare and complex constellation of congenital cardiovascular and hepatic anomalies, highlighting the interplay between PAPVC, CEPS, and their contribution to the development of severe pulmonary artery aneurysms and PH.

The development of PH may be due to an imbalance between vascular inflammatory and anti-inflammatory mediators, pulmonary vasodilators, and vasoconstrictors, or it may be linked to recurrent microemboli originating in the mesenteric circulation and travelling through a portosystemic shunt directly to the lungs. Reference Nagasaka, Okano and Aizawa2,Reference Tang, Song and Wang3 In our case, long-standing PAPVC may also have contributed to PH.

Intrapulmonary vascular dilatations secondary to hepatopulmonary syndrome (HPS) have been reported in 18% of patients with CEPS Reference Bahadori, Kuhlmann and Debray1 and appear to be linked to microvascular alterations partly due to excess pulmonary production of vasodilators and partly due to abnormal angiogenesis. Reference Tang, Song and Wang3,Reference Zhang and Fallon4 However, massive enlargement of the main and branch pulmonary arteries, with compression of bronchial structures, as seen in our case, is extremely unusual.

The management of this complex case required a staged, multidisciplinary approach. The initial transcatheter closure of the CEPS was crucial to eliminate the portosystemic shunt. There are mainly two prerequisites for CEPS closure. The first is the capacity of the portal system to accommodate increased flow (type 2 shunts), which may be documented by the presence of an intrahepatic portal venous system by either imaging or liver biopsy. The second is the absence of a high portal venous pressure, with some authors proposing a cutoff of 30– 32 mmHg post-shunt occlusion. Reference Franchi-Abella, Gonzales and Ackermann5,Reference Ponce-Dorrego, Hernández-Cabrero and Garzón-Moll6 In our case, since portal pressure remained less than 30 mm Hg and intrahepatic portal venous flow appeared adequate, one-step closure was performed. However, an absolute mesenteric pressure >30 mmHg or a portosystemic gradient >20 mmHg on an occlusion test is considered by some centres to be an indication for a two-stage shunt closure. Reference McLin, Franchi-Abella and Brütsch7

CEPS closure may be accomplished by either surgical or endovascular means using a detachable coil, vascular plug, PDA device, or aortic endograft. Reference Azad, Arya and Sitaraman8 Complications following closure include mesenteric or portal thrombosis, plug migration, appearance of a new shunt or new-onset portal hypertension. Reference Zeng, Qu and Sun9

To conclude, we describe transcatheter closure of an unusual case of CEPS with multiple cardiac anomalies presenting in adulthood. The case highlights the importance of evaluating for additional pathology when, despite prior surgical correction, the symptoms or PH are out of proportion to the underlying heart defect and the potential for excellent outcomes with multimodality imaging and appropriate multidisciplinary management.

Financial support

This research received no specific grant from any funding agency, commercial or not-for-profit sectors

Competing interests

The authors declare none.

References

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Nagasaka, H, Okano, Y, Aizawa, M, et al. Altered metabolisms of mediators controlling vascular function and enhanced oxidative stress in asymptomatic children with congenital portosystemic venous shunt. Metabolism 2010; 59: 107–113.CrossRefGoogle ScholarPubMed
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McLin, VA, Franchi-Abella, S, Brütsch, T, et al. Expert management of congenital portosystemic shunts and their complications. JHEP Rep 2023; 6: 100933. Erratum in: JHEP Rep. 2024 Jan 30; 6: 101024CrossRefGoogle ScholarPubMed
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Figure 0

Figure 1.CT Angiographic axial (a), coronal (b) and 3D MPR views (c-f). (a) Dilated main pulmonary artery, compression of carina and right bronchus, partial anomalous drainage of right upper pulmonary veins to SVC. (b) Compression of left bronchus. (c) Partial anomalous drainage of left upper pulmonary veins to innominate vein. (d) Small calibre porta vein. (e-f) Drainage of portal and mesenteric veins into left renal vein via Abernethy malformation. HAP = hepatic artery proper, IV = innominate vein, LB = left bronchus, LUPV = left upper pulmonary vein, MPA = main pulmonary artery, MV = mesenteric veins, PV = portal vein, RB = right bronchus, RUPV = right upper pulmonary vein, RV = left renal vein, S = portosystemic shunt, SVC = superior vena cava.

Figure 1

Figure 2.(a) Angiogram showing Abernethy malformation draining into left renal vein and subsequently, IVC. (b) Portal vein run showing no contrast leak through device. (c) Renal vein run with device in situ. D = device, IVC = inferior vena cava, MV = mesenteric vein, PV = portal vein, RV = left renal vein, S = portosystemic shunt.