What is an Abernethy malformation?

Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies.

How many people have Abernethy syndrome?

Abernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. It was first described by John Abernethy in 1793 [2]. Since then, fewer than 200 cases have been reported, and the majority of affected patients were <18 years of age and female [3].

What is the suggested treatment for Type 1 Abernethy malformation?

Due to the absence of intrahepatic portal vein, liver transplantation is considered to be the only effective therapeutic approach for symptomatic type I Abernethy malformation, since no medical treatment proved effective.

What is meant by portosystemic shunt?

A portosystemic shunt (PSS) is an abnormal vein connecting the blood supply returning from the intestines to the vein returning blood to the heart, bypassing the liver (shunting). Portosystemic shunts can be either congenital (present at birth) or acquired.

What is portosystemic shunt in human?

A portosystemic shunt or portasystemic shunt (medical subject heading term) (PSS), also known as a liver shunt, is a bypass of the liver by the body’s circulatory system. It can be either a congenital (present at birth) or acquired condition and occurs in humans as well as in other species of animals.

Why is it called a portal system?

Definition of a portal system “A portal system is an arrangement by which blood collected from one set of capillaries passes through a large vessel or vessels, to another set of capillaries before returning to the systemic circulation.” This is a verbatim quote from Dorland’s Illustrated Medical Dictionary.

Which is the smallest vein in human body?

Capillaries, the smallest blood vessels, connect arteries and veins.

Does Hepatopulmonary syndrome cause pulmonary hypertension?

POPH is the association between pulmonary hypertension and portal hypertension with or without hepatic disease. Indeed, portal hypertension per se can induce pulmonary hypertension. Interestingly, approximately 10% of POPH patients have portal hypertension without cirrhosis.

What does Abernethy malformation stand for?

This article has been cited by other articles in PMC. Abernethy malformation, also called as congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Although rare, it is increasingly being reported and is important to diagnose given the adverse clinical consequences in untreated patients.

How is Abernethy malformation characterized in cyanosis?

The Abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end-to-side or side-to-side shunt. Here, we report on a 5-year-and-11-month-old-boy who had started cyanosis at age 4 years and 11 months, and did not have any other pulmonary or cardiac signs or symptoms.

How is Abernethy malformation diagnosed?

A diagnosis of Abernethy malformation is made by non-invasive cross-sectional imaging techniques such as ultrasound, CT or MRI, which show the shunt and any intrahepatic portal vein branches [17].