The case report of Abernethy malformation type Ib in an adult patient with pulmonary arterial hypertension

This clinical case illustrates the diagnosis of a rare congenital pathology – an adult patient with pulmonary arterial hypertension and Abernethy malformation type Ib.

Clinical observation: Patient S., 45 years old, with pulmonary arterial hypertension, was admitted with complaints of shortness of breath during intense physical exertion. Based on the anamnesis morbi, the diagnosis of idiopathic pulmonary arterial hypertension has been verified since 2017. Results of comprehensive examination: functional status (six-minute walk test), NTpro-BNP level, chest x-ray, echocardiography, right heart catheterization were assessed during the hospitalization. According to these there were signs of the high pulmonary arterial hypertension with systolic pressure in the lung arteries 68-70 mm Hg, extension of the trunk, right and left branches of the pulmonary artery. In order to exclude objective evidence of cardiac dysfunction, portal hypertension, an abdominal ultrasound was performed. We didn’t obtaine the information about an increase in central venous pressure, the presence of signs of portal hypertension, such as ascites, increased pressure in the portal system. However, echo signs of congenital pathology were determined - Abernethy malformation type Ib: porto-caval shunt between the superior mesenteric vein and the inferior vena cava. According to multispiral computed tomography of abdominal organs with contrast: the superior mesenteric vein and splenic vein join to form a short extra-hepatic portal vein which drains into a systemic vein (inferior vena cava). Taking into account the results of risk stratification, the patient underwent an escalation of pathogenetic therapy for the treatment of pulmonary arterial hypertension, and dynamic monitoring was recommended.

Conclusion: The presented clinical case is unique in terms of diagnosing a rare congenital pathology of the hepatic blood flow – Abernethy malformation type Ib in an adult patient with pulmonary arterial hypertension.

1. Bernard O, Franchi-Abella S, Branchereau S et al. Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis. 2012 Nov;32(4):273-87. Epub 2013 Feb 8. PMID: 23397528. https://doi.org/10.1055/s-0032-1329896

2. Olkhova E.B., Tumanian G.T., Vengerskaia G.V., Kuznetsova E.V., Kartseva E.V., Kirsanov A.S. Abernethy malformation in newborn. Ultrasound diagnostic. Radiology – practice. 2015;6(54):46-58. (In Russ.). EDN: TEIHLR

3. Mistinova J, Valacsai F, Varga I. Congenital absence of the portal vein--Case report and a review of literature. Clin Anat. 2010 Oct;23(7):750-8. PMID: 20533511. https://doi.org/10.1002/ca.21007

4. Morgan G, Superina R. Congenital absence of the portal vein: two cases and a proposed classification system for portasystemic vascular anomalies. J Pediatr Surg. 1994 Sep;29(9):1239-41. PMID: 7807356. https://doi.org/10.1016/0022-3468(94)90812-5

5. Arutyunyants D.E., Khovrin V.V., Galyan T.N. et al. Abernethy Malformation in Children with Focal Liver Lesions. Journal of radiology and nuclear medicine. 2021;102(3):166-171. (In Russ.). https://doi.org/10.20862/0042-4676-2021-102-3-166-171

6. Zhang XL, Duan XM, Wang FY et al. An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension. Chin Med J (Engl). 2017 Sep 20;130(18):2257-2258. PMID: 28875963; PMCID: PMC5598340. https://doi.org/10.4103/0366-6999.213978

7. Hori T, Yonekawa Y, Okamoto S, et al. Pediatric orthotopic living-donor liver transplantation cures pulmonary hypertension caused by Abernethy malformation type Ib. Pediatr Transplant. 2011 May;15(3):e47-52. PMID: 20136726. https://doi.org/10.1111/j.1399-3046.2009.01269.x

8. Ohno T, Muneuchi J, Ihara K, et al. Pulmonary hypertension in patients with congenital portosystemic venous shunt: a previously unrecognized association. Pediatrics. 2008 Apr;121(4):e892-9. Epub 2008 Mar 24. PMID: 18362102. https://doi.org/10.1542/peds.2006-3411

9. Lin KY, Chen H, Yu L. Pulmonary arterial hypertension caused by congenital extrahepatic portocaval shunt: a case report. BMC Cardiovasc Disord. 2019 Jun 13;19(1):141. PMID: 31196005; PMCID: PMC6567657. https://doi.org/10.1186/s12872-019-1124-1

10. Chazova I.E., Martynyuk T.V., Valieva Z.S., Azizov V.A., Barbarash O.L., Veselova T.N., Galyavich A.S., Gorbachevsky S.V., Zelveian P.A., Lazareva I.V., Mukarov M.A., Nakonetchnikov S.N., Saidova M.A., Sarybaev A.S., Stukalova O.V., Shalaev S.V., Shmalts A.A. Eurasian clinical guidelines on diagnosis and treatment of pulmonary hypertension. Eurasian heart journal. 2020;(1):78-122. (In Russ.). https://doi.org/10.38109/2225-1685-2020-1-78-122

11. Galiè N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Respir J. 2015 Oct;46(4):903-75. Epub 2015 Aug 29. Erratum in: Eur Respir J. 2015 Dec;46(6):1855-6. PMID: 26318161. https://doi.org/10.1183/13993003.01032-2015

12. Sokollik C, Bandsma RH, Gana JC, et al. Congenital portosystemic shunt: characterization of a multisystem disease. J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):675-81. PMID: 23412540. https://doi.org/10.1097/mpg.0b013e31828b3750

13. Gubergrits N.B., Bondar E.L., Dyadyk E.A., Berezhnaya E.V., Chirkov Yu.E., Byelyayeva N.V., Lukashevich G.M., Mozhyna T.L. Abernethy Malformation in Combination with Gilbert’s Syndrome. Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2020;30(5):49-57. (In Russ.). https://doi.org/10.22416/1382-4376-2020-30-5-49-57

14. Agarwal, A., Bhangale, D., Sawardekar, V.M. et al. Type II Abernethy malformation in an adult male patient – a rare and reversible cause of pulmonary hypertension: a case report with review of literature. Egypt J Intern Med. 2021;33:38. https://doi.org/10.1186/s43162-021-00068-7

15. Harlander M, Badovinac M, Markoska F, et al. Case report: Congenital extrahepatic portocaval shunt presenting as pulmonary arterial hypertension in a pregnant patient. Pulm Circ. 2022;12:e12008. https://doi.org/10.1002/pul2.12008

16. Yi JE, Jung HO, Youn HJ, et al. A case of pulmonary arterial hypertension associated with congenital extrahepatic portocaval shunt. J Korean Med Sci. 2014 Apr;29(4):604-8. Epub 2014 Apr 1. PMID: 24753712; PMCID: PMC3991808. https://doi.org/10.3346/jkms.2014.29.4.604

17. Martín-Llahí M, Albillos A, Bañares R, et al. Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver. Gastroenterol Hepatol. 2017 Oct;40(8):538-580. English, Spanish. Epub 2017 Jun 11. PMID: 28610817. https://doi.org/10.1016/j.gastrohep.2017.03.011

18. Lisovsky M, Konstas AA, Misdraji J. Congenital extrahepatic portosystemic shunts (Abernethy malformation): a histopathologic evaluation. Am J Surg Pathol. 2011 Sep;35(9):1381-90. PMID: 21836489. https://doi.org/10.1097/pas.0b013e3182230ce4