Abstract Congenital extrahepatic portocaval shunt (CEPS) is a rare condition in which a rare congenital vascular anomaly of the portal system is present. CEPS may manifest as pulmonary arterial hypertension (PAH). When diagnosed and treated early, PAH can be reversible. We report a case of a previously asymptomatic woman, who manifested with severe pulmonary hypertension during pregnancy and was consequently diagnosed with CEPS. After unsuccessful medical treatment, urgent lung transplantation was done.

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pul2.12008

Case report: Congenital extrahepatic portocaval shunt presenting as pulmonary arterial hypertension in a pregnant patient

In this overview of vascular changes of the liver, variations in the liver vessels are discussed, in addition to congenital malformations such as Abernethy malformation, patent ductus venosus Arantii and hereditary hemorrhagic telangiectasia (OslerWeber-Rendu disease). Particular attention is paid to focal liver lesions, especially focal nodular hyperplasia (FNH), but also other solid tumours that develop as a result of altered liver vascularisation. The article focuses on the ultrasonic appearances and changes of the liver, depicted in B-mode sonography, Doppler studies and in contrast-enhanced ultrasonography (CEUS). The clinical manifestations of these conditions associated with other organ systems are also highlighted.

Comments and illustrations of the WFUMB CEUS liver guidelines: rare congenital vascular pathology.

Objective Abernethy malformation (congenital extrahepatic portosystemic shunt) is a rare anomaly of the splanchnic venous system. Though rare, it is an important cause of pulmonary artery hypertension (PAH) which is often missed. All patients with PAH should be carefully evaluated for presence of Abernethy malformation before labelling them as Idiopathic PAH. Methods This is a retrospective analysis of prospectively collected data. We reviewed the data of all patients referred to our center for evaluation of PAH. 10 patients were diagnosed to have an extrahepatic portocaval malformation. We reviewed their presentation, diagnosis, catheterization data, intervention and their outcome along with review of literature. Results 10/104 patients with pulmonary hypertension and no intra or extracardiac shunt were found to have extrahepatic portocaval shunt (EHPCS). 3 patients had EHPCS type 1 and 7 had type 2 EHPCS. 6/7 patient with EHPCS type 2 underwent closure of the shunt. There was no procedure related complication. There was one death 3 months post procedure and one patient who was advised surgical closure was lost to follow up. Closure of the shunt resulted in normalization of the pulmonary artery pressures in 4/5 patients. Conclusion Congenital portosystemic malformations form an important and potentially treatable cause of pulmonary hypertension.

Congenital extrahepatic portocaval malformation: Rare but potentially treatable cause of pulmonary hypertension.

Inferior vena cava (IVC) can be involved by a wide gamut of developmental anomalies owing to its complex embryogenesis. Developmental anomalies of the IVC are not infrequent, seen in approximately 8.7% of the general population. Although most of the anatomical variations are asymptomatic, identification of these variations is important before planning any vascular surgery or interventional procedure in relation to the IVC to avoid inadvertent complications. Conventional venography has largely been replaced by noninvasive cross-sectional imaging modalities for detecting IVC abnormalities. Ultrasonography, often used for initial evaluation, is highly operator-dependent and the infrarenal part of IVC is often obscured by bowel gases. While magnetic resonance imaging is devoid of radiation risks, its use is limited due to limited availability and the frequent need for sedation. Computed tomography (CT) venography plays a pivotal role in the detection of these anomalies as it has an excellent spatial resolution along with availability of multiple postprocessing tools such as multiplanar reconstruction with generation of maximum intensity projection and volume-rendered images. This pictorial review focuses on the embryogenesis of IVC, various developmental anomalies of the IVC and its tributaries, their appearance on CT venography and conceivable clinical relevance.

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Developmental Anomalies of the Inferior Vena Cava and its Tributaries: What the Radiologist Needs to Know?

Congenital portosystemic venous connections are rare vascular anomalies that connect the portal and systemic venous circulations. These vascular lesions can lead to complex and varied physiologic manifestations in single-ventricle patients as they progress through the various stages of palliation in the Fontan pathway. Specifically, these connections may be unmasked after a superior cavopulmonary anastomosis operation, but then “re-masked” after Fontan completion. We describe the complex physiology with an illustrative case report and present a novel method to unmask these pathologic connections after Fontan completion to facilitate transcatheter occlusion and resolve downstream symptoms.

How I do it: Novel technique to “Unmask” and treat congenital portosystemic venous connections in congenital heart disease

Abernethy malformation, also called as congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Although rare, it is increasingly being reported and is important to diagnose given the adverse clinical consequences in untreated patients. It has myriad of clinical presentations, from being completely asymptomatic to causing hepatic carcinoma, hepatic encephalopathy, severe pulmonary hypertension, and diffuse pulmonary arteriovenous malformation. We describe our experience with five cases in a tertiary pediatric cardiac care center with Abernethy malformation, with review of literature and also discuss possible therapeutic implications.

Amit Garg

Papers

Abernethy malformation: Our experience from a tertiary cardiac care center and review of literature