Congenital extrahepatic portosystemic shunt associated with heterotaxy and polysplenia

Abstract

CEPS is associated with heterotaxy with polysplenia and can be symptomatic because of pulmonary arteriovenous (AV) shunting. Portal and hepatic vein patency are critical for determining feasibility of CEPS closure.

Congenital Portosystemic Venous Connections and Other Abdominal Venous Abnormalities in Patients with Polysplenia and Functionally Univentricular Heart Disease: A Case Series and Literature Review

“…There are fewer reports of Abernethy malformation type 2, although this may be a function of differences in ascertainment rather than incidence 18,51 . Among the reported patients with an extrahepatic congenital PSVC, many were noted to have intrapulmonary arteriovenous shunting, and almost all of the patients with intrapulmonary arteriovenous shunting had polysplenia and interruption of the IVC 4–26 (Table 1). However, in most of the other reported cases of complete or partial PSVC, there was no mention of hypoxemia or intrapulmonary arteriovenous shunting, so the frequency of association between PSVCs and PAVMs is difficult to determine.…”

“…However, abnormalities of abdominal venous anatomy may be important in some patients with heterotaxy. For example, congenital portosystemic venous connections (PSVCs), which are rare in the general population, may occur with higher frequency in patients with polysplenia syndrome or features thereof, based on a number of reports, including the seminal case described by Abernethy 4–26 . Also, the pediatric liver transplant literature suggests that a preduodenal course and hypoplasia of the portal vein are common in patients with polysplenia, which is present in ∼10% of patients with biliary atresia 9,24,27,28 .…”

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

“…100 Congenital portosystemic shunt (Abernethy malformation) is an exceedingly rare condition with <100 cases reported. [101][102][103] It is accompanied by CHD in 22% of cases, especially in the setting of polysplenia or left isomerism, and often presents with hyperammonemia, regenerative nodular liver lesions, and hepatocellular carcinoma. There are also a handful of genetic syndromes (eg, Alagille syndrome, Fas-associated death domain deficiency, orofaciodigital syndrome) of which primary liver disease and CHD are both features.…”

Inherited liver shunts in dogs elucidate pathways regulating embryonic development and clinical disorders of the portal vein

“…From several literature reviews and case reports, the disease appears to be more prevalent in the Japanese population. In total, there have been 173 human cases of EHPSS reported (Caruso et al 2010; Franchi-Abella et al 2010; Kobayashi et al 2010; Konstas et al 2010; Lautz et al 2011; Newman et al 2010; Ohno et al 2008) and 89 human cases of IHPSS (Ferrero et al 2010; Franchi-Abella et al 2010; Kamimatsuse et al 2010; Konstas et al 2010; Ohno et al 2008; Schierz et al 2011; Stringer 2008; Tsai et al 2009; Uchino et al 1999; Yoshimoto et al 2004). In human EHPSS, a classification has been made based on the presence or absence of portal blood flow (Abernethy 1793).…”