Abernethy malformation: Our experience from a tertiary cardiac care center and review of literature
TL;DR: This work describes the experience with five cases in a tertiary pediatric cardiac care center with Abernethy malformation, with review of literature and also discusses possible therapeutic implications.
Abstract: 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.
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TL;DR: A case of a previously asymptomatic woman, who manifested with severe pulmonary hypertension during pregnancy and was consequently diagnosed with CEPS, whose urgent lung transplantation was done.
Abstract: 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.
3 citations
TL;DR: 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.
Abstract: 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.
2 citations
TL;DR: In this paper, the authors performed a retrospective analysis of prospectively collected data and found that 10 patients with pulmonary artery hypertension and no intra or extracardiac shunt were found to have extrahepatic portocaval shunt (EHPCS).
Abstract: 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.
2 citations
TL;DR: 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.
Abstract: 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.
1 citations
TL;DR: In this article , the authors present a novel method to unmask these pathologic connections after Fontan completion to facilitate transcatheter occlusion and resolve downstream symptoms, and describe the complex physiology with an illustrative case report.
Abstract: 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.
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TL;DR: This is the first report of reduced-size liver transplant in a patient with CAPV, and the authors' experience and a review of the literature indicate that the CAPV can be classified into one of two groups of portasystemic anomalies.
384 citations
"Abernethy malformation: Our experie..." refers background in this paper
...[6] Morgan and Superina[7] classified CEPS into two types [Figure 4]....
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...Morgan and Superina[7] classified CEPS into two types [Figure 4]....
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TL;DR: Five new cases of congenital extrahepatic portocaval shunts are described in this report, one end-to-side shunt with congenital absence of the portal vein (type 1 shunt) is the 13th case in the literature, and four are side- to-side (type 2) shunts of which there have been only two previous reports.
219 citations
"Abernethy malformation: Our experie..." refers background in this paper
...Type 2 shunts have no gender predilection.[3,6]...
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...The development of the portal venous system is extremely complex and occurs between the 4th and 10th week of embryonic life.[3] The portal vein is formed from the vitelline vein, a pair of vessels located on the anterior surface of the yolk sac....
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TL;DR: Shunt closure resulted in restoration of intrahepatic portal flow in all children, with complete or partial regression of benign liver masses, and regression or stabilization of pulmonary, cardiac, neurological, and renal complications.
Abstract: Background and Objective:Congenital portosystemic shunts are rare vascular malformations that lead to severe complications. Their management is controversial. The aim of this study was to propose a clear definition of the risks and management of congenital portosystemic shunts in children ac
200 citations
"Abernethy malformation: Our experie..." refers background in this paper
...Franchi‐Abella et al.[12] proposed a cutoff of 32 mmHg of portal venous pressure postshunt occlusion....
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...even mild are usually considered absolute indication for treatment.[11,12]...
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...Franchi‑Abella et al.[12] proposed a cutoff of 32 mmHg of portal venous pressure postshunt occlusion....
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TL;DR: MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities.
Abstract: A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested.
142 citations
"Abernethy malformation: Our experie..." refers background in this paper
...The most common drainage site is IVC (portocaval shunt), but it can drain in the renal vein, iliac vein, azygous vein, or right atrium.[6]...
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...Type 2 shunts have no gender predilection.[3,6]...
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TL;DR: Congenital extrahepatic portosystemic shunt (CEPS) is a rare condition in which the portomesenteric blood drains into a systemic vein, bypassing the liver through a complete or partial shunt.
Abstract: Congenital extrahepatic portosystemic shunt (CEPS) is a rare condition in which the portomesenteric blood drains into a systemic vein, bypassing the liver through a complete or partial shunt. Most often, the diagnosis is made primarily with Doppler ultrasonography. Computed tomographic angiography and magnetic resonance angiography are used for further classification of the shunt and assessment of accompanying anomalies. Conventional angiography is necessary when results of the other tests disagree or are inconclusive. CEPS is classified into two types according to the pattern of anastomoses between the portal vein and systemic vein. In type 1, intrahepatic portal venous supply is absent; in type 2, intrahepatic portal venous supply is preserved. Type 1 usually occurs in girls with associated malformations, such as situs ambiguous with polysplenia and congenital heart defects. Associated anomalies are less frequent in type 2, and symptoms usually develop later without a gender preference. Hepatic encephalopathy and liver dysfunction are possible complications of both types and usually develop during adulthood. Both types are also associated with regenerative hepatic nodules. The clinical setting and imaging appearance of these nodules can help one avoid misdiagnosis. Definitive treatment of CEPS is determined by the type of shunt. Liver transplantation is the only effective treatment for symptomatic type 1 CEPS; surgical closure or embolization of the shunt is the therapeutic approach for type 2.
130 citations
"Abernethy malformation: Our experie..." refers background in this paper
...Alonso‐Gamarra et al.[11] suggested a diagnostic algorithm...
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...even mild are usually considered absolute indication for treatment.[11,12]...
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...[11,12] Alonso‑Gamarra et al.[11] suggested a diagnostic algorithm according to which asymptomatic/mild metabolic abnormality should be followed up with ultrasonography and biochemistry....
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