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Table of Contents   
Year : 2020  |  Volume : 13  |  Issue : 3  |  Page : 269-271
Hemangioma – A pointer to Abernethy syndrome?

Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India

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Date of Submission29-Apr-2020
Date of Decision08-Jun-2020
Date of Acceptance09-Jun-2020
Date of Web Publication02-Jul-2020


Diffuse pulmonary arteriovenous malformations or pulmonary arterial hypertension (PAH) may result from congenital portosystemic venous shunts. Hemangioma as a physical sign of congenital portosystemic shunts (like Abernethy syndrome) has not been described. I report two children (one with severe cyanosis from pulmonary arteriovenous malformations and the other with severe PAH) with cutaneous hemangioma and Abernethy syndrome. Hemangioma may be a clinical pointer to portosystemic shunts even in the absence of obvious liver disease.

Keywords: Abernethy syndrome, hemangioma, pulmonary arterial hypertension

How to cite this article:
Kothari SS. Hemangioma – A pointer to Abernethy syndrome?. Ann Pediatr Card 2020;13:269-71

How to cite this URL:
Kothari SS. Hemangioma – A pointer to Abernethy syndrome?. Ann Pediatr Card [serial online] 2020 [cited 2022 Dec 6];13:269-71. Available from:

   Case 1 Top

A 9-year-old girl presented with worsening cyanosis and breathlessness for the last 3 years. On examination, she was severely cyanosed and clubbed [Figure 1]a. The vitals were normal. The clinical examination was otherwise unremarkable with normal second heart sound. There was a hemangioma on the left ear [Figure 1]b. There was no family history of similar skin lesions. The chest X-ray and electrocardiogram (ECG) were within normal limits. Her hemoglobin was 16 gm%, and oximetry showed 78% saturation. The liver and kidney function tests were normal. On echocardiography, structurally normal heart was seen. However, a contrast echo showed opacification of the left atrium after 3–4 beats and was diagnostic of pulmonary arteriovenous fistulae (PAVF). The chest computed tomography (CT) showed no parenchymal abnormality and a CT angiogram showed the presence of portosystemic shunt (extrahepatic portosystemic shunt or Abernethy syndrome). The portal vein was draining into the left renal vein [Figure 2]. The intrahepatic portal radicles were not seen.
Figure 1: Patient 1 with cyanosis and clubbing (panel a) from diffuse pulmonary arteriovenous fistula and hemangioma (arrow) on the left ear (panel b)

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Figure 2: Reconstructed volume rendered technique images (panel a and b) and contrast enhanced computed tomography images in axial section at the level of splenoportal axis (panel c-e) showing fistulous communication between portal vein and left renal vein. No evidence of intrahepatic portal venous radicles seen. SV: Splenic vein, Ao: Aorta, SMV: Superior mesenteric vein, IVC: Inferior vena cava

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   Case 2 Top

An 8-year-old girl evaluated for worsening of breathlessness for the last 1 year. She was a known case of pulmonary hypertension diagnosed from 3 years of age and was receiving sildenafil for the same for the last 1 year. The patient had undergone a thoracotomy with a wrong diagnosis of aortopulmonary window at 3 years of age elsewhere. She had nephrotic syndrome 2 years earlier and a kidney biopsy showed membranous glomerulonephritis. The patient had previously received steroids for nephrotic syndrome. On examination, her vital status was normal, and there was no pedal edema. A loud pulmonic component of second heart sound was heard on auscultation, but there were no other abnormal findings. Similar to the first patient, she also had a hemangioma over the left ear [Figure 3]. There was no family history of similar illness or skin lesions. Her chest X-ray showed mildly dilated pulmonary artery. The ECG was normal. The echocardiogram showed no other congenital heart disease and normal right and left ventricle function. There was mild tricuspid regurgitation with an estimated pulmonary artery pressure of 70 mmHg. The CT angiogram showed the portal vein communicating to the inferior vena cava with no intrahepatic portal radicles (Abernethy syndrome) [Figure 4].
Figure 3: Patient 2-hemangioma on the left ear (arrow)

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Figure 4: Contrast-enhanced computed tomography images in axial section at the level of splenoportal axis showing end to side fistulous communication (arrow) between portal vein and inferior vena cava. No evidence of intrahepatic portal venous radicles seen. RV: Left renal vein, SV: Splenic vein, CA: Coeliac artery, Ao: Aorta

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   Discussion Top

Portosystemic venous shunt that results in diversion of portal venous blood to the systemic circulation may cause PAVF or pulmonary arterial hypertension (PAH).[1] Portosystemic shunts may be intra- or extrahepatic (Abernethy syndrome) and are being increasingly recognized. The purpose of this communication is to highlight that hemangioma may be a clinical pointer to an underlying portosystemic shunt as seen in both of these cases. Persistent hemangioma in childhood is rare,[2] and fortuitous occurrence of Abernethy malformation with unrelated hemangioma, although possible, seems less likely. Whether such an association represents a distinct syndrome is not known. In fact, such angioma has previously been seen in portosystemic shunt patient including an infant,[3],[4] but has not been emphasized. It is possible that more such reports can follow once the condition is brought into the focus. Angiomatous lesions in patients with liver disease or in hereditary hemorrhagic telangiectasis may occur and might coexist with PAVF or PAH, but their association with Abernethy malformation has not been recognized. Both these patients did not have significant liver disease at the presentation. Whether these angiomas could result from subtle liver dysfunction is speculative; even so, the recognition of the association may be useful. Since hepatopulmonary syndrome or PAH due to portosystemic shunts could be treatable,[5],[6] it is obviously important to identify such patients. Children with these shunts may also present with liver disease, encephalopathy, or may be asymptomatic. Sometimes, these malformations exist with congenital heart diseases such as patent ductus arteriosus, heterotaxy syndromes, and others,[1] and thereby the recognition may be even more elusive. Hence, the presence of cutaneous hemangioma may suggest an underlying portosystemic shunt in appropriate context. The utility of this finding needs more studies.


I thank Dr. Sanjiv Kumar, Additional Professor, Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, for providing the CT images.

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.

Financial support and sponsorship


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
Boull C, Maguiness SM. Congenital hemangiomas. Semin Cutan Med Surg 2016;35:124-7.  Back to cited text no. 2
Venkat-Raman N, Murphy KW, Ghaus K, Teoh TG, Higham JM, Carvalho JS. Congenital absence of portal vein in the fetus: A case report. Ultrasound Obstet Gynecol 2001;17:71-5.  Back to cited text no. 3
Thirapattaraphan C, Treepongkaruna S, Ruangwattanapaisarn N, Sae-Guay S. Congenital extrahepatic portosystemic shunt (Abernethy malformation) treated with surgical shunt ligation: A case report and literature review. Int J Surg Case Rep 2020;66:4-7.  Back to cited text no. 4
Knirsch W, Benz DC, Bühr P, Quandt D, Weber R, Kellenberger C, et al. Catheter interventional treatment of congenital portosystemic venous shunts in childhood. Catheter Cardiovasc Interv 2016;87:1281-92.  Back to cited text no. 5
Emre S, Arnon R, Cohen E, Morotti RA, Vaysman D, Shneider BL. Resolution of hepatopulmonary syndrome after auxiliary partial orthotopic liver transplantation in Abernethy malformation. A case report. Liver Transpl 2007;13:1662-8.  Back to cited text no. 6

Correspondence Address:
Dr. Shyam S Kothari
Department of Cardiology, Cardio-Thoracic Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/apc.APC_91_20

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