Abernethy malformations are a rare collection of congenital hepatic portosystemic shunts. The purpose of this study was to demonstrate manifestations of. A 17yearold girl with situs ambiguous, hypoplastic right ventricle with a large ventricular septal defect, and severe pulmonary stenosis had undergone kawashima operation 10 years back. The confluence of the splenic vein and superior mesenteric vein drained directly into the ivc. It is classified in two types according to vascular relations table 1. Epidemiology type i malformations are thought to occur o. Abernethy syndrome is a congenital malformation characterized by agenesis or hypoplasia of the portal vein, causing an extrahepatic portosystemic shunt. The abernethy malformationmyriad imaging manifestations of a.
Pdf is strictly prohibited, unless prior agreement in writing is gained from the author and publisher. We have also described various associated anomalies. Reviewing the literature, the malformation we identified in this case should be classified as abernethy type ib syndrome the patient has a short portal trunk which drains into the inferior vena cava in a sidetoside manner. Abernethy malformation type ii with nephrotic syndrome and. Abernethy malformation is a very rare congenital vascular malformation defined by diversion. The abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end. This case report discusses variant splanchnic and portal anatomy in the setting of rare. Hypoxia due to intrapulmonary vascular dilatation in a. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. They consist of congenital portosystemic shunts and result from persistence of the embryonic vessels.
A case report on an incidental discovery of congenital. The editor and publisher are not doctors and are not engaged in providing medical advice. Congenital extrahepatic portosystemic shunt ceps or abernethy malformation is a rare condition in which splanchnic venous blood bypasses. Surgical ligation for the treatment of an unusual presentation of. Threedimensional printing facilitates successful endovascular closure of a type ii abernethy malformation using an amplatzer atrial septal occluder device author links open overlay panel jeffrey forris beecham chick 1 shilpa n. Congenital extrahepatic portosystemic shunts abernethy. The potential implications of abnormal portovenous shunting and decreased hepatic portal flow are numerous and potentially serious. Abernethy malformation radiology reference article. Described a congenital diversion of portal blood away from the liver, by either endto. Congenital extrahepatic portosystemic shunt abernethy. The term hepatopulmonary syndrome typically applies to cyanosis that results from intrapulmonary vascular dilatation due to advanced liver disease. We report a case of intrasyringeal hemorrhage into a preexisting lumbosacral syrinx associated with chiari type i malformation.
Pdf abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It provides information about am and the opportunity to in touch with other patients. Abernethy malformation see congenital extrahepatic portosystemic shunt. Abernethy malformation is defined as congenital diversion of portal blood away from the liver by either endto. Browse az genetic and rare diseases information center. This congenital anomaly may present in children or in adults and are often found following abdominal. The morphology suggested a type ib abernethy malformation. Abernethy malformation medhelp s abernethy malformation center for information, symptoms, resources, treatments and tools for abernethy malformation. John abernethy based on the postmortem examination of a 10monthold female who died of unknown causes. In a type 1 shunt, portal blood is diverted completely into the inferior vena cava, with absence of the portal vein fig. Capv abernethy malformation was first reported by john abernethy in 1793.
The combination of cmavm and alagille syndrome in a patient. Available formats pdf please select a format to send. Abernethy ps malformation in adulthood, is an even rarer occurrence and may represent a milder disease variant, especially because most of these are type ii ie. The cta revealed that intestinal and splenic venous blood bypasses the liver and drains into the inferior vena cava. Imaging examination is an important method for the diagnosis. A professional society overview from the american college of cardiology, the american association for thoracic surgery, society for cardiovascular angiography and interventions foundation, and the society of thoracic surgeons. Abernethy malformation annals of pediatric cardiology. Tarsal fusions were described in connection with syndromic malformation complexes such as spondylocarpotarsal synostosis and with symphalangism 6, 7. In type 1, all portal venous blood is discharged into the inferior vena cava and there is no intrahepatic portal vein. All images in this pulication are either in the public domain or the copyrigtht of iain abernethy or micheal rosenbaum. Fortyfive children with trisomy 21 were identified. A 19yearold male patient presented cyanosis and dyspnoea because of the presence of multiple pulmonary arteriovenous fistulas resulting in oxygen desaturation. She had significant desaturation because of a large abernethy malformation, with reverse shunting from the inferior caval vein to the portal vein.
Tumors and vascular malformations of the thalamus are often considered inoperable due to challenges related to the functional eloquence of tissue that must be traversed for access and the sensitive nature of the thalamic tissue itself. Abernethy malformation, also known as congenital extrahepatic portosystemic shunts ceps is a rare clinical entity and manifests with different clinical symptoms. Unusual discovery after an examination for abdominal pain. Abernethy malformation with inferior vena cava stenosis. Browse az browse the gard list of rare diseases and related terms to find topics of interest to you. Abernethy malformation is considered as one of the etiologies of hepatopulmonary syndrome hps. Cardiac anomalies in the setting of the abernethy malformation of the portal vein volume 17 issue 2 christopher ratnasamy, amethyst kurbegov, sethuraman swaminathan. The abernethy malformation is characterised by congenital extrahepatic portosystemic shunts and is divided into two groups according to the type of anastomosis.
The abernethy malformation is a rare anomaly with a widely variable clinical presentation. Abstract a link between congenital vascular malformation cvm of the liver and trisomy 21 has been suggested. We present a case of abernethy malformation, without associated congenital anomalies from india. Type i is more frequent in females and is usually associated with vascular malformations and hepatic tumors. He was an english anatomist, physiologist, and surgeon. Our 19yearold patient is with a type 2 abernethy malformation elected permanent shunt closure following worsening dyspnea. An adverse consequence of such shunts is intrapulmonary vascular dilatation, which affects the microvascular gas exchange units for oxygen. The abernethy malformation is characterized by congenital extrahepatic portosystemic shunts and is divided into two groups according to the type of anastomosis. Abernethy and kincardine, the former ecclesiastical and civil parish. Lower gastrointestinal bleeding as a form of presentation. Every effort has been made to obtain the necessary permissions with.
This facebook page is dedicated to abernethy malformations. A 45yearold man with incidentally discovered, unresectable hcc were treated with tace to the left hepatic lobe and tare to the right hepatic lobe. Nowadays, with the evolution of medical imaging, diagnosis can be made more easily, but management of patients with an abernethy malformation is. Abernethy malformation is considered as one of the etiologies of hepato pulmonary syndrome hps. Similar findings may result from a congenital portosystemic shunt without liver disease. Capillary malformationarteriovenous malformation cmavm is an autosomal dominant disorder characterized by cms, often in association with fastflow vascular malformations. It is commonly associated with multiple congenital anomalies. Dr lukasz kwapisz, department of internal medicine, western university, 147 ocean pearl street, whitby, ontario l1n 0c7. Read abernethy malformation, radiographics on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Malformation definition of malformation by medical.
Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. Find abernethy malformation information, treatments for abernethy malformation and abernethy malformation symptoms. An exception to congenital avm is dural arteriovenous malformation, which is generally acquired. For language access assistance, contact the ncats public information officer. Nowadays, with the evolution of medical imaging, diagnosis can be made more easily, but management of patients with an abernethy malformation is still open for discussion. Abernethy malformation a rare but important diagnosis. All such infants were also diagnosed with a range of cardiac defects. Ceps are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Single stage endovascular treatment of a type 2 abernethy.
Abernethy nbr railway station, a former railway station in this village. Abernethy malformation is a rare congenital abnormality. The area containing the village of nethy bridge formerly known as abernethy, highland, within the cairngorms national park. Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein is the result of malformation of the splanchnic venous. It has been classified into two types based on the pattern of anastomosis between the portal. Abernethy malformation with portal vein aneurysm in a. A 3yearold boy, who presented with progressive cyanosis and hypoxia, was diagnosed with a large congenital extrahepatic portosystemic shunt, interrupted ivc with azygos continuation, and multiple congenital anomalies. Bleeding confined to the syrinx cavity causes severe, sometimes acute, neurological deficits. Abernethy malformationcongenital portocaval shunt, journal of gastroenterology and hepatology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
John abernethy gave the first account of absent portal vein and congenital mesentericcaval shunt. Since abernethy malformation can be without symptoms, the number of undiagnosed cases is not known. Typically, one is born with an avm, and as he grows older, the size of the malformation increases, but it does not spread as cancer may. Most are not inherited, with the exception of hereditary hemorrhagic telangiectasia hht. Gowers intrasyringeal hemorrhage associated with chiari. Although overall a rare malformation, congenital extrahepatic ps shunts are being diagnosed more frequently with the advances in imaging techniques, especially in the perinatal periods following directed screening exercises. Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. The abernethy malformation is a congenital extrahepatic portocaval shunt. Abernethy malformation, also called as congenital extrahepatic. Abernethy malformation with portal vein aneurysm atin kumar, jyoti kumar, rakesh aggarwal, siddharth srivastava t he abernethy malformation congenital extrahepatic portosystemic shunt ceps is a rare condition. Abernethy malformation, also known as congenital extrahepatic portosystemic shunt, is a rare malformation in which the intestinal and splenic venous blood bypasses the liver and drains into systemic veins through a complete or partial shunt. This is the first reported case of hepatopulmonary syndrome caused by congenital extrahepatic portosystemic shunt in. Arnoldchiari deformity a congenital anomaly in which the cerebellum and medulla oblongata protrude down into the cervical spinal canal through the foramen magnum.
In this case study, we describe a 34yearold caucasian man who presented with. Traditionally open and laparoscopic surgical techniques have been used to treat this malformation. The patient, however, was still asymptomatic with a type ii abernethy malformation, and her previous surgical history did not seem to qualify as an iatrogenic cause for this shunt. The abernethy malformationmyriad imaging manifestations. The abernethy malformation consists of a congenital extrahepatic portosystemic shunt and is believed to be extremely rare in humans. Idiopathic hemorrhage in a syrinx is a rare entity known as gowers intrasyringeal hemorrhage. Article 15, 12017 journal of gastrointestinal and liver. Endovascular repair using a 16mm amplatzer vascular plug aga medical. In 2003, only 31 cases of abernethy malformation, mostly in children 80% were detected in the world. Abernethy forest, a forest and national nature reserve within the area.