A congenital portosystemic shunt of the portal vein is a very rare vascular anomaly associated with the liver. We report the case of a 5-year-old girl with a patent ductus venosus and her 31-year-old mother with a congenital portosystemic shunt. The child presented with a history of an extremely low birth weight in addition to an atrial septal defect and a patent ductus venosus. At the age of 2, she underwent ligation of the ductus venosus. Her mother was also diagnosed with a congenital vascular anomaly at the age of 16. We have followed up and evaluated her asymptomatic mother for 15 years. To our knowledge, this is the first report describing the occurrence of a congenital portosystemic shunt in both a mother and her child

Chayama, Kazuaki

Furukawa, Yoshinari

Goto, Kumiko

Hiyama, Eiso

Honda, Yohji

Kakizawa, Hideaki

Kurihara, Sho

Mori, Nami

Takaki, Shintaro

Tsuji, Keiji

Hiroshima University Institutional Repository

85Hiroshima J. Med. Sci.Vol. 66, No. 3, 85~90, September, 2017HIJM 66–15Familial Occurrence of a Congenital Portosystemic Shunt of the Portal VeinKumiko GOTO1), Keiji TSUJI1*), Yohji HONDA1), Shintaro TAKAKI1),Nami MORI1), Hideaki KAKIZAWA2), Sho KURIHARA3), Eiso HIYAMA3),Yoshinari FURUKAWA1), Kazuaki CHAYAMA4)1) Department of Gastroenterology, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital2) Department of Radiology, Hiroshima Red Cross Hospital & Atomic-bomb Survivors 3) Department of Surgery, Applied Life Sciences Institute of Biomedical & Health Sciences, Hiroshima University.4) Department of Gastroenterology and Metabolism, Applied Life Sciences Institute of Biomedical & Health Sciences, Hiroshima University.ABSTRACTA congenital portosystemic shunt of the portal vein is a very rare vascular anomaly associated with the liver. We report the case of a 5-year-old girl with a patent ductus venosus and her 31-year-old mother with a congenital portosystemic shunt. The child presented with a history of an extremely low birth weight in addition to an atrial septal defect and a patent ductus venosus. At the age of 2, she underwent ligation of the ductus venosus. Her mother was also diagnosed with a congenital vascular anomaly at the age of 16. We have followed up and evaluated her as-ymptomatic mother for 15 years. To our knowledge, this is the first report describing the occur-rence of a congenital portosystemic shunt in both a mother and her child.Key words:  Congenital portosystemic shunts of the portal vein, Abernethy malformation, patent ductus venosusCASE REPORTThis Japanese girl was born at 27 weeks of ges-tation because of foetal growth retardation. At birth, she weighed 1,031 g, and was diagnosed with an atrial septal defect and a patent ductus venosus. Standard therapy for a very low birth weight infant was administered, and she was dis-charged 4 months later. Laboratory investigations revealed moderately elevated liver enzymes [as-partate aminotransferase, 79 IU/l (N < 35); ala-nine aminotransferase, 67 IU/L (N < 30); lactate dehydrogenase, 333 IU/l (N < 256); ammonia, 134 IU/l (N < 80); and total bile acids, 114.1 IU/l (N < 10). Abdominal ultrasonography (US) and comput-ed tomography (CT) scans showed a patent ductus venosus―a shunt between the portal vein and su-prahepatic inferior vena cava (IVC, Figs. 1, 2). In-vasive angiography revealed that the right branch of the portal vein was attenuated and the umbili-cal portion drained into the IVC via the patent ductus venosus (Fig. 3). She had a weak constitu-tion and was repeatedly hospitalised for pneumo-nia and febrile convulsions. At the age of 2, she Congenital portosystemic shunts (CPSSs), rare vascular malformations that allow intestinal blood to bypass the liver, are classically divided into in-tra and extrahepatic types1, 2). An intrahepatic shunt, also referred to as patent ductus venosus, can occur in one or both liver lobes and consists of one or multiple portosystemic connections. An ex-trahepatic shunt, first described by Abernethy in 1793, is classified based on the degree of shunting: type I, associated with complete absence of the portal vein; and type II, associated with portosys-temic shunting1). Kohda et al.3) subsequently sub-classified type I malformations into types Ia and Ib, according to portal vein anatomy. In cases of Ia subtype, the splenic vein (SV) and superior mesen-teric vein (SMV) drain separately, while in cases of Ib subtype, they drain together to form a com-mon trunk.Herein, we report the case of a young girl who presented with patent ductus venosus and her mother who presented with an Abernethy malfor-mation type II.Keiji Tsuji, M.D., Ph.D.*Department of Gastroenterology, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital1-9-6 Senda-machi Naka-ku Hiroshima 730-8619, JapanE-mail: k-tsuji@hiroshima-med.jrc.or.jp    TEL +81-82-241-311186 K. GOTO et alunderwent surgery for closure of the patent ductus venosus. Postoperative laboratory test results were near-normal, and the right branch of the por-tal vein could be faintly/indistinctly visualised (Fig. 4). She is now being followed up at another hospital.The 31-year-old mother, whose case we first re-ported in 2005, was incidentally diagnosed with an absent portal vein and multiple liver masses when she was 16 years old4). She has been followed up for 15 years, with yearly laboratory tests, US, and CT. She has remained asymptomatic with no observable change in the liver masses. However, we could ultimately confirm that the right branch of the portal vein was present in this patient, al-though it was underdeveloped and that its left branch drained into the IVC at the level of the right atrium.Figure1. An ultrasonographic (US) image showing the ductus venous, which is the shunt between the umbilical portion and the suprahepatic inferior vena cava (IVC).Figure2. a.b) Preoperative abdominal enhanced computed tomography (CT) showing the superior mesenteric vein (SMV) and splenic vein (SV) are combined correctly. The right branch of the portal vein (PV) is barely visualised. c) Three dimensional reconstructed helical CT images showing the shunt more clearly.Umbilical portionUmbilical portion 15mmP3P2Patent ductus venous 8mmSMV→静脈管→右枝↗SMV→←SVPV→←IVC←SVSMV→PV→PV→a cbpatent ductus venous87Familial Occurrence of a Congenital Portosystemic Shunt of the Portal Veindifference in the proportion of patients affected by extrahepatic shunts; however, most intrahepatic shunts were found in male patients. Mild liver dysfunction was found in approximately half of the patients, and more than half of the patients pre-sented with symptoms that led to the diagnosis of CPSS, including neurological and pulmonary in-volvement.Embryologically, the portal vein arises from the vitelline venous system during the first 4-10 weeks of gestation4, 13). The intrahepatic portal vein originates from the superior connection be-tween the right and left vitelline veins; however, the extrahepatic portal vein arises from selective involution of the caudal portions of the right and DISCUSSIONCPSSs, whether intra- or extrahepatic, occur in one in 30,000 births5). Bernard et al.6) have re-ported 265 cases of CPSS in children aged 16 or younger at the time they first presented with symptoms or were diagnosed with this condition. On the basis of this review, a persistent ductus ve-nosus was found in siblings in five families includ-ing three pairs of twins.7,8,9,10,11) Sokollik et al.12) have reported 316 published cases of CPSSs until 2010. Among 185 patients diagnosed with an ex-trahepatic shunt, 103 had type I, and 82 had type II condition. The remaining 131 patients had an intrahepatic shunt. There was no significant sex Figure3. a) Catheterisation of the IVC via the femoral vein. b) The ductus venosus is occluded using a balloon measuring 20 mm in diameter contrasted. The right branch of the PV, P2, and P3 is faintly visualised.Figure4. Postoperative abdominal enhanced CT showing the intrahepatic portal vein is clearly visualised.←ductus venousa│b88 K. GOTO et alrecent years because of improved imaging capabil-ities and the development of innovative therapeu-tics. Bernard et al.6) stated that over the past 30 years, there has been an exponential increase in the number of reported cases of children with CPSS. Although reports describing patent ductus venosus in siblings37, 38) suggest a genetic origin, the role of genetic factors is yet to be conclusively established. However, CPSSs are among the most common congenital abnormalities diagnosed in dogs39). Karen M40) has reported an association be-tween the breed and diagnosis of CPSSs in dogs. Certain pure breeds appear to show an increased risk for CPSSs than mixed-breed dogs. Thus, the higher odds ratios among specific breeds support the hypothesis of a genetic predisposition for CPSSs. In future, we plan to investigate relatives of the two patients reported in the present case, in an at-tempt to identify genetic factors, if any, associated with the aetiopathogenesis of CPSSs.REFERENCES1. Cheung, K.M., Lee, C.Y., Wong,C.T. and Chan,A.K.H. Congenital absence of portal vein presenting as hepatopulmonary syndrome. J Paediatr Child Health 2005; 41: 72-75.2. Culafic, D., Perisic, M., Vojinovic-Culafic, V., Sagic, D. and Kerkez M. Spontaneous splenorenal shunt in a patient with liver cirrhosis and hypertro-phic caudal lobe. J Gastrointestin Liver Dis 2006; 15(3): 289-292.3. De Gaetano, AM., Gui, B., Macis, G., Manfredi, R. and Di Stasi, C. Congenital absence of the portal vein associated with focal nodular hyperplasia in the liver in an adult woman: imaging and review of the literature. Abdom Imaging 2004; 29: 455-459.4. Franchi-Abella, S., Branchereau, S., Lambert, V, Fabre, M., Steimberg, C., Losay, J., et al. Compli-cations of Congenital Portosystemic Shunts in Chil-dren: Therapeutic Options and Outcomes. JPGN 2010; 51: 322-330.5. Guariso,G., Fiorio,S., Altavilla,G., Gamba,G., Toffoutti,T., Chuesure-Corona M., et al. Congeni-tal absence of portal vein associated with focal nod-ular hyperplasia of the liver and cystic dysplasia of the kidney. Eur J Pediatr 1998; 157: 287-290.6. Bernard, O., Franchi-Abella, S., Branchereau, S. et al. Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis. 2012;32(4):273-287.7. Uchino, T., Endo, F., Ikeda, S., Shiraki, K., Sera, Y. and Matsuda, I. Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosus. Gastroenterology 1996; 110(6):1964-19688. Gillespie, M. J., Golden, A., Sivarajan, V. B. and Rome, J. J. Transcatheter closure of patent ductus venosus with the Amplatzer vascular plug in twin brothers. Pediatr Cardiol 2006;27(1):142-1459. Peretta, P., Carlino, C., Gennari, F., et al. Sponta-neous occlusion of brainstem arteriovenous malfor-left vitelline veins15). Excessive involution can lead to complete or partial absence of the portal sys-tem15). As a result, mesenteric and splenic venous blood drains into the renal veins, hepatic veins, or IVC, resulting in poor liver perfusion16, 17, 18). In our case, the child had an extremely low birth weight in addition to an atrial septal defect and patent ductus venosus. Her mother had an under-developed right branch of the portal vein and a left branch that drained into the IVC at the level of the right atrium. Embryologically, development of the hepatic venous system involves formation of three pairs of major veins between the 4th and 5th week of life during the prenatal period.19) This is the time during the prenatal period when the vi-telline and umbilical veins form the sinusoid net-work. In light of the existence of a patent ductus venosus or the intrahepatic shunt in our patient, we reckon that a malfunction/defect in the devel-opment of the vitelline venous system could have precipitated the CPSS in this case. Although CPSS is a rare complication associated with he-reditary diseases such as Down’s or Turner’s syn-drome20,21,22), our patients showed no such obvious hereditary disease or family history. We could nei-ther demonstrate the involvement of hereditary factors in this condition, nor conclusively establish that the malfunction/defective development of the vitelline venous system could occur in both the mother and infant independently.CPSSs can cause a broad spectrum of clinical manifestations, including hypergalactosaemia4, 23, 24), focal nodular liver hyperplasia25, 26, 27), cardiac anom-alies such as ventricular septal defect28, 29), atrial sep-tal defect29, 30), patent ductus arteriosus30, 31), skeletal abnormalities30), hepatopulmonary syndrome32), and hepatic encephalopathy33, 34, 35). Therapeutic interventions include surgical clo-sure of shunt or use of interventional radiology techniques, and liver transplantation leading to an improvement of symptoms. However, the optimal timing to initiate treatment remains controversial. Kanazawa et al.36) proposed that the severity of these complications should be used as an absolute indicator for the appropriate timing to initiate treatment, even if these symptoms are mild.In patients presenting with intrahepatic shunts, the shunt might show spontaneous closure within the first year of life. Therefore, therapeutic proce-dures for intrahepatic CPSSs should be postponed in asymptomatic infants < 1 year of age. Because of the high incidence and severity of complications that can occur in the later years of life, shunt clo-sure procedures should be considered for symptom-atic patients, and in those with shunts persisting beyond the first year of life. Liver transplantation remains the only curative treatment option for met-abolic abnormalities caused by type I shunts. CPSSs have been reported more frequently in 89Familial Occurrence of a Congenital Portosystemic Shunt of the Portal VeinTurner syndrome. Pediatr Radiol 2006; 36: 566-568.26. Park, J.H., Cha, S.H., Han, J.K. and Han, M.C. In-trahepatic portosystemic venous shunt. AJR Am J Roemgenol 1990; 155: 527-528.27. Pichon, N., Maisonette, F., Pichon-Lefiever, F., Valleix, D. and Pillegand, B. Hepatocarcinoma with congenital agenesis of the portal vein. Jpn J Clin Oncol 2003; 33: 314-316.28. Ratnasamy, C., Kurbegov, A. and Swaminathan, S. Cardiac anomalies in the setting of the Aber-nethy malformation of the portal vein. Cardiol Young 2007; 17(2): 212-214.29. Sumida, W., Kaneko, K, Ogura, Y., Tainake, T., Ono, Y., Seo, T., et al. Living donor liver transplan-tation for congenital absence of the portal vein in a child with cardiac failure. J Pediatr Surg 2006; 41: e9-e12.30. Sagiv-Friedgut, K., Witzling, M., Dalal, I., Vin-kler, C., Someh, E. and Levine, A. Congenital pat-ent ductus venosus: an association with the hyper IgE syndrome. J Pediatr 2007; 150: 210-212.31. Stringer, M. D., The clinical anatomy of congenital portosystemic venous shunts. Clin Anat 2008; 21(2): 147-157.32. Singhal, M., Lal, A., Thapa, B.R., Prakash, M., Shanbhogue, K.P. and Khandelwal, N. Congenital atresia of portal vein with portocaval shunt associ-ated with cardiac defects, skeletal defromities, and skin lesions in a boy. J Pediatr Surg 2008; 43(8): e25-e28.33. Sokollik, C., Bandsma, R.H., Gana, J.C., Van, Den, H.M. and Ling, S.C. Congenital Portosystemic Shunt: Characterization of a Multisystem Disease. J Pediatr Gastroenterol Nutr. 2013; 56(6): 675-681.34. Tanaka, Y., Takayanagi, M., Shiratori, Y., Imai, Y., Obi, S., Tateishi, R., et al. Congenital absence of portal vein with multiple hyperplastic nodular le-sions in the liver. J Gastroenterol 2003; 38(3): 288-294.35. Tobias, K. M. and Rohrbach, B. W. Association of Breed with the Diagnosis of Congenital Portosys-temic Shunts in Dogs: 2,400 Cases(1980-2002). J Am Vet Med Assoc 2003; 223(11): 1636-1639.36. Tsuji, K., Noki, K., Tachiyama, Y., Fukumoto, A., Ishida, Y., Kuwabara, T., et al. A case of congenital absence of the portal vein. Hepatol Res 2005; 31: 43-47.37. Tivers, M.S., Upjohn, M., House, A.K., Brockman, D.J. and Lipscomb, V.J. Treatment of extrahepatic congenial portosystemic shunts in dogs-what is the evidence base? Journal of Small Animal Practice 2012; 53: 3-11.38. Uchino, T., Endo, F., Ikeda, S., Shitaki, K., Sera, Y. and Matsuda, I. Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to patent ductus venosus. Gastroenterology 1996; 110: 1964-1968.39. Witters, P., Maleux, G., George, C., Delcroix, M., Hoffman, I., Gewillig, M., et al. Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol 2008; 23(8 Pt 2): e390-e394.40. Wojcicki, M., Haagsma, E.B., Gouw, A.S.H., Slooff, M.J.H. and Porte, R.J. Orthotopic liver mation following ligature of a hepatic patent ductus venosus. Case report and review of the literature. J Neurosurg 2007;106(2, Suppl):147-15210. Sagiv-Friedgut, K.,Witzling, M., Dalal, I., Vinkler, C., Someh, E. and Levine, A. Congenital patent ductus venosus: an association with the hyper IgE syndrome. J Pediatr 2007;150(2):210-21211. Ferrero, G. B, Porta, F., Biamino, E., et al. Remit-tent hyperammonemia in congenital portosystemic shunt. Eur J Pediatr 2010;169 (3):369-37212. Goo, H.W. Extrahepatic portosystemic shunt in con-genital absence of the portal vein depicted by time-resolved contrast-enhanced MR angiography. Pedi-atr Radiol 2007; 37: 706-709.13. Hu, G.H, Shen, L.G, Yang, J, Mei, J.H. and Zhu, Y.H. Insight into congenital absence of the portal vein: is it rare? World J Gastroenterol 2008; 14: 5969-5979.14. Hino, T., Hayashida, A., Okahashi, N., Wada, N., Watanabe, N., Obase, K., et al. Portopulmonary hypertension associated with congenital absence of the portal vein treated with bosentan. Intern Med 2009; 48: 597-600.15. Joyce, A.D., Howard, E.R., Rare congenital anom-aly of the portal vein. Br J Surg 1988; 75: 1038-1039.16. Kohda, E., Saeki, M., Nakano, M., Masaki, H., Ogawa, K., Nirasawa, M., et al. Congenital absence of the portal vein in a boy. Pediatr Radiol 1999; 29(4): 235-237.17. Kinjo, T., Aoki, H., Sunagawa, H., Kijo, S. and Muto, Y. Congenital absence of the portal vein asso-ciated with focal nodular hyperplasia of the liver and congenital choledochal cyst: a case report. J Pe-diatr Surg 2001; 36: 622-625.18. Kanazawa, H., Nosaka, S., Miyazaki, O., Saka-moto, S., Fukada, A., Shigeta, T., et al. The clas-sification based on intrahepatic portal system for congenital portosystemic shunts. J of Pediatr Surg 2015; 50: 688-695.19. Sadler, T.W. LANGMANS Medical Embryology 12th ed it ion,  W blters K luwer Health / L ippincott Williams&Wilkins, a Wblters Kluwer business, Baltimore, 2012, pp191-19320. Pipitone, S., Garofalo, C., Corsello, G., et al. Ab-normalities of the umbilicoporta1 venous system in Down syndrome: areport of two new patients. Am J Med Genet A 120A: 528-532, 200321. Golewale, N., Paltiel, H.J., Fishman, S.J., et al Portal vascular anomalies in Down syndrome: spec-trum of clinical presentation and management ap-proach. JPediatr Surg 45:1676-1681,201022. Hofstaetter, C., Plath, H. and Hansmann, M.  Pre-natal diagnosis of abnormalities of the feta1 venous system. Ultrasound Obstet Gynecol 15:231-241, 200023. Morgan, G. and Superina, R.  Congenital absence of the portal vein: two cases and a proposed classifi-cation system for portosystemic vascular anomalies. J Pediatr Surg 1994; 29: 1239-1241.24. Massin, M., Verloes, A. and Jamblin, P. Cardiac anomalies associated with congenital absence of the portal vein. Cardiol Young 1999; 9(5): 522-525.25. Noe, J.A., Pittman, H.C. and Burton, E.M. Con-genital absence of the portal vein in a child with 90 K. GOTO et alvein. Liver Transpl 2004; 10(9): 1203-1207.transplantation for portosystemic encephalopathy in an adult with congenital absence of the portal 

Familial Occurrence of a Congenital Portosystemic Shunt of the Portal Vein

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Familial Occurrence of a Congenital Portosystemic Shunt of the Portal Vein

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