Congenital portosystemic shunts: diagnosis and treatment

Abstract

Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts. Diagnosis relies on imaging, and prenatal diagnosis is possible. Spontaneous closure of the CPSS is possible in some anatomic forms during the first year of life. When the CPSS remains patent, radiologic or surgical closure of the CPSS may prevent, resolve, or stabilize complications. Interventional radiology plays a key role for both the preoperative evaluation with occlusion test to assess the exact anatomy and to measure portal pressure after occlusion of the CPSS. Endovascular closure is the first option for treatment when possible.

Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study

“…Some researchers have suggested that prophylactic anticoagulation could also be useful to prevent thrombosis after shunt closure . Our results coincide with previous reports, suggesting that shunt closure has a huge efficacy managing most CEPS complications and, most interestingly, preventing its appearance. Therefore, shunt closure must be always considered in symptomatic patients and should also be considered as a prophylactic treatment early in the evolution of the disease to prevent the development of severe complications.…”

“…Recently, more detailed anatomical subclassifications (3,4) have been described, correlating the anatomy of the shunt to the surgical approach required for its closure. (4,5) It has also been stated that to accurately assess the patency of intrahepatic veins, an angiography with occlusion of the shunt should be performed, to distinguish whether the assumed absence of intrahepatic veins could, in fact, be concealing remnant hypoplastic hepatic branches. (3,4,6) CEPS is usually associated with congenital anomalies, the most frequent being cardiac abnormalities, genitourinary malformations, and musculoskeletal defects.…”

Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare disease

“…Congenital portosystemic shunts (CPSS) are a rare vascular consequence from the atypical formation of the splanchnic venous system, in which the portal blood drains entirely or partially into a systemic vein 1 2. They are the result of embryogenetic vascular alterations or the persistence of the fetal circulation elements, especially those related to the ductus venosus 3.…”

“…Regarding genetical disorders, down syndrome has been the most frequently associated, with 13 cases described. Nevertheless, association with other syndromes have been reported, such as Turner, Cornelia de Lange, Holt-Oram, Goldenhar, Wolf-Hirschhorn and Adam-Olivers 2…”

“…In type Ib, the SMV and the splenic vein form a common trunk and are joined in an end to side shunt between PV and IVC and are also named in the literature as ‘congenital absence of the PV’. Type II is defined as partial shunt having an existing portal liver perfusion, where a side to side shunt PV to IVC prevails with a patent PV2 5 6 (table 1).…”