Abernethy malformation: A case report

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Abstract

Congenital portosystemic shunts are rare congenital vascular malformations characterized by a partial or complete portal blood diversion into the systemic circulation. Congenital extrahepatic portosystemic shunts, known as Abernethy malformations, pose a diagnostic challenge due to their low incidence and clinical presentations.

A 15-year-old male with a history of chronic epigastric pain and nausea, high arterial blood pressure, recurrent nose bleeds, chest pain, dizziness, dyspnea, low exercise tolerance, hematochezia, and itching was diagnosed with Abernethy malformation type Ib. Imaging studies revealed a dilated portal vein conduit flowing into the inferior vena cava, bypassing the porta hepatis. Multiple liver nodules, heart chamber dilatation, myocardial hypertrophy, and pulmonary hypertension were also discovered. Following multidisciplinary panel meetings, liver transplantation was advised due to the severity of the patient’s symptoms and shunt anatomy.

Furthermore, diagnostic algorithms and other treatment options are discussed.

About the authors

Alexandra V. Panyukova

Lomonosov Moscow State University, Medical Research and Educational Center

Email: panyukovaalexandra@gmail.com
ORCID iD: 0000-0002-5367-280X
Russian Federation, Moscow

Valentin E. Sinitsyn

Lomonosov Moscow State University, Medical Research and Educational Center

Email: vsini@mail.ru
ORCID iD: 0000-0002-5649-2193
SPIN-code: 8449-6590

MD, Dr. Sci. (Med); Professor

Russian Federation, Moscow

Elena A. Mershina

Lomonosov Moscow State University, Medical Research and Educational Center

Email: elena_mershina@mail.ru
ORCID iD: 0000-0002-1266-4926
SPIN-code: 6897-9641

MD, Cand. Sci. (Med.), Assistant Professor

Russian Federation, Moscow

Natalya A. Rucheva

V.I. Shumakov National Medical Research Center of Transplantology and Artificial Organs

Author for correspondence.
Email: rna1969@yandex.ru
ORCID iD: 0000-0002-8063-4462

MD, Cand. Sci. (Med.)

Russian Federation, Moscow

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Supplementary files

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2. Fig. 1. Contrast-enhanced CT, portal phase, axial view. Dilated splenic vein (SV).

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3. Fig. 2. Contrast-enhanced CT, portal phase, coronal view. Splenic (SV) and superior mesenteric (SMV) veins fused together, forming a portal vein conduit (white arrow).

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4. Fig. 3. Contrast-enhanced CT, portal phase, axial view. Portal vein conduit (white arrow).

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5. Fig. 4. Contrast-enhanced CT, portal phase, coronal view. Portal vein conduit flowing directly into the IVC (white arrow), enlarged liver with heterogeneous parenchymal enhancement.

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6. Fig. 5. CT pulmonary angiography, axial view. Pulmonary trunk dilatation.

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7. Fig. 6. CT pulmonary angiography, axial view. Myocardial hypertrophy.

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8. Fig. 7. Normal portal vein anatomy and shunt classification. IVC — inferior vena cava; PV – portal vein; SV — splenic vein; SMV — superior mesenteric vein; a — normal PV anatomy; b — CEPSS type Ia; c — CEPSS type Ib; and d — CEPSS type II.

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9. Fig. 8. A congenital extrahepatic portosystemic shunt management algorithm proposed by Baiges et al. [4]. CEPS — congenital extrahepatic portosystemic; CT — computed tomography; HCC — hepatocellular carcinoma; HE — hepatic encephalopathy; MRI — magnetic resonance imaging; US — ultrasound.

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