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Year : 2021  |  Volume : 10  |  Issue : 1  |  Page : 42-44

A rare and curable cause of cyanosis – Congenital portosystemic shunts

Department of Cardiology, Mahatma Gandhi Medical College and Research Institute, Puducherry, India

Date of Submission04-Aug-2020
Date of Acceptance24-Sep-2020
Date of Web Publication27-Mar-2021

Correspondence Address:
Dr. Balasubramaniyan Amirtha Ganesh
Department of Cardiology, Mahatma Gandhi Medical College and Research Institute, 1st Floor, E Block, Puducherry
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JCPC.JCPC_50_20

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Congenital portosystemic shunts (CPSSs) are rare developmental vascular anomalies which are classified into extrahepatic and intrahepatic malformations. Here, we report a 7-year-old girl who presented with a history of progressive dyspnea, pandigital cyanosis, and clubbing. On evaluation, she was found to have a rare combination of both type II extrahepatic and intrahepatic portosystemic shunts which were closed endovascularly in the same setting. Diagnosis of CPSS needs a very high index of clinical suspicion. Timely diagnosis with specific imaging modalities will help in deciding the treatment strategy and may prevent long-term complications.

Keywords: Abernethy malformation, congenital Portosystemic shunts, Park malformation, pulmonary arteriovenous malformation

How to cite this article:
Ganesh BA, Aashish A, Karthikeyan S, Giridharan S. A rare and curable cause of cyanosis – Congenital portosystemic shunts. J Clin Prev Cardiol 2021;10:42-4

How to cite this URL:
Ganesh BA, Aashish A, Karthikeyan S, Giridharan S. A rare and curable cause of cyanosis – Congenital portosystemic shunts. J Clin Prev Cardiol [serial online] 2021 [cited 2023 Mar 29];10:42-4. Available from: https://www.jcpconline.org/text.asp?2021/10/1/42/312225

  Introduction Top

Congenital portosystemic shunts (CPSSs) are rare developmental vascular anomalies which result in shunting of intestinal venous blood directly to the systemic circulation. They are estimated to have an incidence of 1:30,000–1: 50,000 live births.

CPSS was first described by John Abernethy in 1793, which is basically classified into extrahepatic and intrahepatic.[1],[2]

Here, we present a hitherto unreported combination of both extrahepatic and intrahepatic portosystemic shunts in the same patient, where the diagnosis was extremely challenging and its endovascular management resulted in complete disappearance of symptoms.

  Case Report Top

A 7-year-old girl with a history of surgical closure of atrial septal defect (ASD) at 3 years of age presented with a history of Class II dyspnea, pandigital cyanosis, and Grade 2 clubbing of 6-month duration. Following ASD closure, her postoperative period was uneventful and she was asymptomatic until 6 months back when she started developing progressive dyspnea and noted to have pandigital cyanosis and clubbing. On examination, room air saturation in all limbs was 83% with orthodeoxia. Systemic examination revealed no significant abnormalities. Her electrocardiogram was within normal limits. Her chest X-ray was normal.

Echocardiogram revealed intact interatrial septum with normal pulmonary venous drainage. She underwent a contrast echo with agitated saline. Normally, the agitated saline entering the right atrium (RA) reaches the pulmonary circulation and gets absorbed. Very few bubbles can reach the left atrium after 7–8 cardiac cycles. However, in our patient, it reached the left atrium with the same density as in RA in 4–5 cardiac cycles, which was suggestive of extracardiac shunt, probably pulmonary arteriovenous (AV) shunting [Figure 1].
Figure 1: Contrast echocardiography showing the agitated saline entering the left heart with the same intensity from the right within 4–5 cardiac cycles

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Computed tomography (CT) pulmonary angiogram to detect pulmonary arteriovenous malformation (AVM) revealed normal pulmonary vasculature. Since contrast echo was highly suggestive of pulmonary AV shunting, pulmonary AV communication at the microvascular level was strongly suspected and conventional pulmonary angiogram was performed. It revealed bilateral diffuse AVMs at the microvascular level. Meanwhile, her ultrasound abdomen was reported to have a lesion in the liver suggestive of hemangioma. With this background, Osler–Weber–Rendu disease (hereditary hemorrhagic telangiectasia) was kept as a probable diagnosis.

Further evaluation with magnetic resonance imaging (MRI) brain [Supplementary File 1] to look for AVMs revealed T1 hyperintensities involving the bilateral globus pallidus and cerebral peduncles, which could be due to deranged liver function or portosystemic shunt. However, since her initial ultrasound showed normal liver architecture and liver function tests were unaltered, a repeat ultrasound was ordered for and it clinched the diagnosis. It revealed a 2.7 cm communication draining the left branch of portal vein into the cavoatrial junction of inferior vena cava (IVC) [Figure 2].

Figure 2: Ultrasound abdomen shows a 2.7 cm wide shunt draining the left branch of the portal vein into the cavoatrial junction

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An extrahepatic type II malformation (Abernethy) – left branch of portal vein draining to RA-IVC junction and an intrahepatic type II malformation (Park) which is a peripheral shunt between the left branch of the portal vein and the left hepatic vein was identified on CT abdominal angiogram [Figure 3]. These two portosystemic shunts explained the features of MRI brain and also explained the opening up of small pulmonary AVMs. Hence, endovascular intervention was planned.
Figure 3: (a) Computed tomography abdominal angiogram showing Abernethy type II malformation shunt (thick yellow arrow) draining left branch of the portal vein to the right atrium-inferior vena cava junction (right side image). (b) Park type II malformation peripheral shunt (thin yellow arrow) between the left branch of the portal vein and left hepatic vein (right side image)

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Catheter venogram confirmed both the malformations and was closed endovascularly with 16 mm × 9 mm Amplatzer vascular plug and 8 mm × 10 mm Nester cook coil embolization, respectively [Figure 4].
Figure 4: Catheter venogram showing the Abernethy malformation with its Amplatzer plug (thick yellow arrows) and Park malformation with its coil embolization (thin yellow arrows)

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Postembolization venogram showed a normal flow of contrast through IVC and hepatic vein without shunting. At 6 weeks postprocedure, cyanosis and breathlessness improved with room air saturation at 98% and repeat contrast echocardiography with agitated saline showed no features of extracardiac shunting. Follow-up liver functions test and blood ammonia level were normal.

  Discussion Top

CPSSs are rare disorders of abnormal development of the vitelline veins during embryonic period.[3] They are classified into extrahepatic and intrahepatic portosystemic shunts.

Clinical presentation of CPSS is variable. Subclinical course is more common. Many cases come to light while under evaluation for associated cardiac anomalies. Significant encephalopathy which may be clinically apparent occurs in older age group. Progressive dyspnea may be a presentation of hepatopulmonary syndrome (HPS) with other features such as hypoxemia, clubbing, and cyanosis.[4]

Vasodilator substances and other toxins present in the portal vein normally enter the first-pass metabolism in the liver for detoxification. In CPSS, they are shunted to the pulmonary circulation directly resulting in HPS and its manifestations like pulmonary AVMs.[5] Many anomalies are frequently associated with CPSS.

Accurate and early diagnosis of CPSS is necessary to intervene at the appropriate time to prevent long-term complications. The type of the shunt, its location, shunt ratio (size), and symptom severity determine the further treatment strategy. Patients with a failed medical treatment, refractory symptoms, increasing shunt ratio, i.e., >60%, portopulmonary hypertension, HPS, clinical encephalopathy, and regenerative liver nodules are all indicators for early intervention to prevent further morbidity and mortality.[1]

Type 1 extrahepatic malformations are usually subjected to liver transplantation when compared to type 2 extrahepatic and intrahepatic malformations which can be corrected either by endovascular embolization or surgical ligation.[3] Some intrahepatic shunts undergo spontaneous closure by 1 year of life, if not they can be closed.[1] However, many recently reported papers have suggested that even type 1 shunts have small portal vein radicals, so a single- or two-staged procedure to close the shunt can be performed after a balloon occlusion test. A two-staged procedure gives time for the portal branches to grow, thereby avoiding severe acute portal hypertension.[1],[4] Liver transplantation is done for large intrahepatic and extrahepatic shunts which are not suitable for endovascular closure, failed interventions, or those who have developed tumors.[1]

Our patient underwent successful Amplatzer plug closure of extrahepatic type II (Abernethy) shunt and coil embolization of type II intrahepatic (Park) shunt at the same setting with no complications with complete disappearance of cyanosis over a period of 2 weeks.

  Conclusion Top

CPSSs are very rare vascular malformations of the portal venous system. A very high index of clinical suspicion is needed to diagnose the disease promptly. Furthermore, a combination of various shunts could co-exist which requires meticulous attention during diagnostic evaluation. Hence, any patient who presents with unexplained pulmonary AVMs, it is necessary to keep in mind HPS due to CPSS as a causative factor.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Papamichail M, Pizanias M, Heaton N. Congenital portosystemic venous shunt. Eur J Pediatr 2018;177:285-94.  Back to cited text no. 1
Păcurar D, Dijmărescu I, Dijmărescu AD, Romaşcanu M, BecheanuCA. A case report on an incidental discovery of congenital portosystemic shunt. Medicine (Baltimore) 2019;98:e16679.  Back to cited text no. 2
Mesquita RD, Sousa M, Vilaverde F, Cardoso R. Abernethy malformation: Beware in cases of unexplained hepatic encephalopathy in adults-case report and review of the relevant literature. BJR Case Rep. 2018;4.  Back to cited text no. 3
Pathak A, Agarwal N, Mandliya J, Gehlot P, Dhaneria M. Abernethy malformation: A case report. BMC Pediatr 2012;12:57.  Back to cited text no. 4
Vettukattil JJ. Pathogenesis of pulmonary arteriovenous malformations: Role of hepatopulmonary interactions. Heart 2002;88:561-3.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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