Multimodality imaging of Abernethy malformation

El-Medany, A. Y., Rego, G., Williams, M., Lyen, S. M., & Turner, M. (2022). Multimodality imaging of Abernethy malformation. Echocardiography, 39(3), 524-527. https://doi.org/10.1111/echo.15324 Publisher's PDF, also known as Version of record License (if available): CC BY Link to published version (if available): 10.1111/echo.15324 Link to publication record in Explore Bristol Research PDF-document This is the final published version of the article (version of record). It first appeared online via Wiley at https://doi.org/10.1111/echo.15324 . Please refer to any applicable terms of use of the publisher. University of Bristol - Explore Bristol Research General rights This document is made available in accordance with publisher policies. Please cite only the published version using the reference above. Full terms of use are available: http://www.bristol.ac.uk/red/research-policy/pure/user-guides/ebr-terms/ Received: 26 November 2021 Revised: 18 January 2022 Accepted: 22 January 2022 DOI: 10.1111/echo.15324 CASE REPORT Multimodality imaging of Abernethy malformation Gui Rego MSc1 Ahmed Y. El-Medany MSc1 Stephen Lyen MBBS2 Mark Turner PhD1 Matthew Williams BSc1 1 Department of Cardiology, Bristol Heart Institute, Bristol, UK 2 Department of Radiology, Bristol Royal Infirmary, Bristol, UK Correspondence Ahmed Y. El-Medany MSc, Department of Cardiology, Level 7, Bristol Heart Institute, Terrell Street, Bristol, UK. Email: [email protected] Abstract Abernethy malformation, or congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Despite its rarity, it is increasingly being reported, and therefore, it is important to diagnose given the potential adverse clinical consequences if left untreated. It has a spectrum of presentations, ranging from complete lack of symptoms, to causing hepatic carcinoma, hepatic encephalopathy, severe pulmonary hypertension, and diffuse pulmonary arteriovenous malformation. We herein describe the case and echocardiographic, computed tomography, and magnetic resonance imaging findings of a transgender individual, with this anomaly detected incidentally during adulthood. KEYWORDS Abernethy malformation, CT, echocardiography, MRI, portal vein 1 CASE PRESENTATION the absence of symptoms, or obvious benefit to undertaking an occlusion of this lady’s abnormal venous connection, the decision was made A 41-year-old transgender female presented to the cardiology clinic to avoid percutaneous shunt occlusion. with long-standing symptoms of frequent palpitation and occasional Follow-up echocardiography 12 months later (Figure 5) effectively dizziness. Previous echocardiography 2 years prior reported on a glob- demonstrated an abnormal connection between the portal system and ular left ventricle and mild left atrial dilatation, although mentioned right atrium. Color doppler demonstrated venous flow diversion from no other abnormalities. She had had previous equivocal Lyme disease the portal vein into the inferior vena cava (Figure 5 and Supplementary serology consistent with previous deer bites, and therefore a cardiac Material). magnetic image resonance (CMRI) scan was organized to assess for possible myocarditis. This investigation revealed a large anomalous porto-sytemic shunt in keeping with Type 1b Abernethy malformation 2 DISCUSSION (Figures 1–3). She was subsequently referred to the adult congenital heart disease (ACHD) team and the Hepatologists with regards to fur- Abernethy malformation is a congenital extrahepatic portosystemic ther investigation and consideration of percutaneous shunt occlusion. shunt (CEPS), whereby most of the intestinal and splenic venous blood A critical flicker frequency test was organized to assess for possible bypasses the portal vein and drains directly into the inferior vena cava subtle hepatic encephalopathy in the context of a large porto-systemic (IVC) through abnormal communication. Type 1 CEPS is characterized shunt, which was ultimately reassuring. Computed tomography (CT) by the absence of intrahepatic portal vein branches and an end-to-side confirmed a large aberrant vessel extending from the portal vein to the portocaval shunt, whereas in type 2 CEPS the intrahepatic veins are right atrium (Figure 4). No significant hepatic lesion was identified. In hypoplastic but patent, and a side-to side shunt diverts blood from the This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2022 The Authors. Echocardiography published by Wiley Periodicals LLC. Echocardiography. 2022;1–4. wileyonlinelibrary.com/journal/echo 1 EL-MEDANY ET AL . 2 F I G U R E 1 Magnetic resonance images of incidental Abernethy malformation. Axial half Fourier single-shot turbo spin-echo (top-left and bottom) and coronal fast imaging with steady-state precession (top right) images demonstrating the inferior vena cava (A) and extrahepatic portosystemic shunt (B) portal vein to the IVC. Type 1 CEPS can be further classified into type 1a, when the superior mesenteric and splenic veins drain separately into the IVC, and type Ib when these veins form a common anastomosis before draining into the IVC.1,2 This case is an example of type 2 CEPS. Abernethy malformation is diagnosed via noninvasive crosssectional imaging such as transthoracic echocardiography, CT, or magnetic resonance imaging (MRI), which demonstrates the shunt and any intrahepatic portal vein branches.3 To date, less than 300 cases of CEPS have been reported. The F I G U R E 2 Magnetic resonance images of incidental Abernethy malformation. Short axis steady-state free precession cine stack demonstrating the abnormal portal vein (B) and the inferior vena cava (A) entering the right atrium spectrum of clinical presentation ranges from completely asymptomatic forms to severe forms of hepatic encephalopathy (HE), hep- defects, patent foramen ovale, patent ductus arteriosus, and tetralogy atopulmonary syndrome (HPS), and pulmonary arterial hypertension of Fallot.4,7 (PaHT).4–8 Nodular liver lesions are frequently identified, although Shunt closure is considered in symptomatic patients and as a pro- most of these nodules are benign. However, hepatocellular carcino- phylactic treatment early in the course of the disease to prevent mas (HCCs) and adenomas, among other neoplastic lesions, have been the development of severe complications such as HE. Despite shunt reported.3,8 Furthermore, CEPS is commonly associated with congen- closure, the risk of complications never completely disappears, and ital cardiovascular abnormalities, such as atrial and ventricular septal thus regular surveillance for HCC is important.4 F I G U R E 3 Magnetic resonance images of incidental Abernethy malformation. Coronal fast imaging with steady-state free precession, posterior to anterior stack, demonstrating the inferior vena cava (A) and extrahepatic portal vein (B) draining into the right atrium (RA) EL-MEDANY ET AL . 3 ORCID Ahmed Y. El-Medany MSc Gui Rego MSc https://orcid.org/0000-0003-4419-6693 https://orcid.org/0000-0001-5388-4055 REFERENCES F I G U R E 4 Coronal maximum intensity projection contrast-enhanced computed tomography of the upper abdomen in the portal venous phase demonstrating extrahepatic portosystemic shunt (arrow), portal vein (PV), and superior mesenteric vein (SMV) 1. Morgan G, Superina R. 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Lancet North Am Ed. 2004;363(9419):1461-1468. 7. Ratnasamy C, Kurbegov A, Swaminathan S, Cardiac anomalies in the setting of the Abernethy malformation of the portal vein. Cardiol. Young. 2007 ;17(2):212-214. F I G U R E 5 Subcostal transthoracic echocardiography imaging demonstrating the inferior vena cava (ivc), superior vena cava (svc), and extrahepatic portosystemic shunt (shunt) – Color doppler demonstrates venous flow diversion from the portal vein (PV) into the right atrium (top and bottom right) EL-MEDANY ET AL . 4 8. Crespin J, Nemcek A, Rehkemper G, Blei AT. Intrahepatic portal-hepatic venous anastomosis: a portal-systemic shunt with neurological repercussions. Am J Gastroenterol. 2000;95(6):1568-1571. How to cite this article: El-Medany AY, Rego G, Williams M, Lyen S, Turner M. Multimodality imaging of Abernethy malformation. Echocardiography. 2022;1-4. SUPPORTING INFORMATION Additional supporting information may be found in the online version of the article at the publisher’s website. https://doi.org/10.1111/echo.15324