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Table of Contents
Year : 2022  |  Volume : 16  |  Issue : 3  |  Page : 331-333

Combined open-heart surgery and living donor liver transplantation in a 4-year-old child with Alagille syndrome - A case report

Department of Liver Transplant and HPB Surgery, Apollo Hospitals, Hyderabad, Telangana, India

Date of Submission26-Apr-2022
Date of Acceptance27-Jun-2022
Date of Web Publication30-Sep-2022

Correspondence Address:
Dr. Manish Chandra Varma
Department of Liver Transplant and HPB Surgery, Apollo Hospitals, Jubilee Hills, Hyderabad - 500 033, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijot.ijot_42_22

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Alagille syndrome (ALGS) is a complex multisystem genetic disorder. Patients with ALGS usually require liver transplantation (LT). Congenital heart diseases are also common in ALGS patients. ALGS patients may become ineligible for LT procedure due to cardiac abnormalities whereas any corrective cardiac surgeries are precluded due to the Child C cirrhosis of the liver in these patients. We report a unique case of a 4-year- and 10-month-old girl who underwent open-heart surgery and living donor liver transplantation (LDLT). She had significant hepatic and cardiopulmonary involvement, and Child C cirrhosis with portal hypertension and complex cardiac defects, and was ineligible for up-front LT. An open-cardiac surgery was performed and after 12 h she received LDLT using a left lateral hepatic graft. This is the first report of a case of successful combined open-heart surgery and LDLT in a child with ALGS with cardiac defects and Child C liver cirrhosis.

Keywords: Alagille syndrome, living donor liver transplantation, open-heart surgery

How to cite this article:
Punjala SR, Reddy L S, Balasubramanyam M, Varma MC. Combined open-heart surgery and living donor liver transplantation in a 4-year-old child with Alagille syndrome - A case report. Indian J Transplant 2022;16:331-3

How to cite this URL:
Punjala SR, Reddy L S, Balasubramanyam M, Varma MC. Combined open-heart surgery and living donor liver transplantation in a 4-year-old child with Alagille syndrome - A case report. Indian J Transplant [serial online] 2022 [cited 2022 Nov 27];16:331-3. Available from: https://www.ijtonline.in/text.asp?2022/16/3/331/357609

  Introduction Top

Alagille syndrome (ALGS) is a multisystem disorder which generally occurs due to defective Notch signaling pathways.[1] A majority of ALGS patients are diagnosed within the 1st year of life.[2] The progressive liver disease with cholestasis and pruritus usually seen, require consideration for liver transplantation (LT).[3] Congenital heart diseases are also common in ALGS patients.[4] We report a unique case of a girl child with ALGS who underwent open-heart surgery and living donor liver transplantation (LDLT).

  Case Report Top

A 4-year- and 10-month-old girl presented with a diagnosis of ALGS. She had jaundice, pruritus, ascites, generalized weakness, poor appetite, average nutritional and performance status, significant hepatic and metabolic bone diseases, cardiopulmonary involvement, and Child C cirrhosis with portal hypertension.

Her laboratory investigations were – hemoglobin: 8.9 g/dL, international normalized ratio (INR): 4.98, total bilirubin: 14 mg/dL, direct bilirubin: 1.8 mg/dL, serum glutamic-oxaloacetic transaminase (SGOT): 82 IU/L, serum glutamic-pyruvic transaminase (SGPT): 110 IU/L, gamma-glutamyl transferase (GGT): 252 IU/L, total protein: 6.1 g/dL, and albumin: 3.1 g/dL. Autoimmune and virology markers were negative, thus ruling out the autoimmune liver disease and any active or past infection. Wilson's disease was ruled out with ceruloplasmin level of 0.4 g/dL, and hereditary hemochromatosis with normal serum iron (120 μg/dL) and ferritin (400 pmol/L) levels. The patient also had metabolic bone disease (rickets) with low calcium (6.5 mg/dL), high-alkaline phosphatase (ALP, 214 IU/L) and urea (32 mg/dL), and severe growth retardation and delayed motor developmental milestones. Her liver and bone abnormalities were indicative for LT.

Cardiac evaluation through transthoracic echocardiogram showed severe supravalvular pulmonary stenosis (PS) with narrowing in the main pulmonary artery (MPA), moderate left pulmonary artery (LPA) stenosis, small perimembranous ventricular septal defect (VSD) of 1.5 mm diameter, small apical VSD of 2.5 mm diameter, and a small patent ductus arteriosus (PDA). The severe supravalvular PS increased the peak velocity of flow across the pulmonary valve/MPA with a transpulmonary pressure gradient of 112 mmHg, eventually leading to bidirectional shunts across the VSDs. These features made her ineligible for an upfront high-risk procedure, i.e., liver transplant. Hence, an initial plan was made to correct the supravalvular PS with balloon valvuloplasty by a multidisciplinary team.

Desired outcomes were not achieved by balloon angioplasty of supravalvular PS as the transpulmonary pressure gradient was 100 mmHg postprocedure. Hence, a combined open-heart surgery (MPA and LPA plasty) followed by LDLT was planned. Five days later, open-heart surgery was performed where MPA and LPA stenosis were repaired with pericardial patches. Increased central venous pressure was noted 6 h postoperatively, and a repeat echocardiogram showed pericardial effusion. The surgical wound was reexplored, and reactionary hemorrhage was noted from the site of sternal wires. Bleeding was controlled and the sternal wound was left open to be closed after liver transplant surgery. Within 12 h of the initial surgery, ABO-compatible (B+ to AB+) LDLT surgery commenced.

Her 32-year-old mother donated her left lateral hepatic lobe. Hepatic vein reconstruction was performed by quilt venoplasty using a donor graft vein. The graft-to-recipient weight ratio was 3. Solumedrol 50 mg was used as induction immunosuppression. Piperacillin-tazobactam, teicoplanin and fluconazole were antimicrobials used at induction. On exploration of the recipient, ascites and splenomegaly were observed. Native hepatectomy was performed and orthotopic liver transplant along with biliary reconstruction by Roux-en-Y hepaticojejunostomy and sternal wound closure were completed within 24 h from commencing the open-heart surgery. The Piggyback technique was performed.

There were no immediate postoperative complications. The patient was weaned off the ventilator on postoperative day 3 while inotropic support discontinued on postoperative day 6. Persistent inhalational oxygen was required for 10 more days after extubation. The patient was discharged on postoperative day 14 without any pertinent issues, while on maintenance immunosuppression with tacrolimus, mycophenolate mofetil (MMF), and wysolone. At discharge, her blood levels were as follows: hemoglobin − 12 g/dl, INR − 1.2, platelets − 160,000/mL, total bilirubin − 1.4 mg/dL, SGOT − 41 IU/L, SGPT − 92 IU/L, ALP − 131 IU/L, GGT − 103 IU/L, urea − 38 mg/dL, and creatinine − 0.22 mg/dL.

Steroids were withdrawn at 5 months posttransplant. Valganciclovir was continued until 1-year posttransplant, as donor was cytomegalovirus (CMV) immunoglobulin G (IgG) positive and the recipient was CMV IgG negative. Prophylactic antifungals, trimethoprim/sulfamethoxazole, and supplementation with calcium and multivitamins were continued until 1-year posttransplant. She was subsequently weaned off MMF at 17 months posttransplant.

At her last follow-up, 5 years after her transplant, she was on tacrolimus monotherapy maintenance. Her liver graft function was stable with total bilirubin: 0.47 mg/dL, SGOT: 28 IU/L, SGPT: 54 IU/L, ALP: 301 IU/L, and GGT: 22 IU/L. There we no episodes of liver graft rejection or infections.

  Discussion Top

To our knowledge, this is the first reported case of a combined open-heart surgery (MPA and LPA plasty along with the closure of VSDs and pulmonary valve replacement) and LDLT in a 4-year- and 10-month-old girl suffering from ALGS, and followed-up for 5 years posttransplant.

The greater percentage of surgical complications and reoperations are observed in patients undergoing LT for ALGS when compared to other surgeries performed for biliary atresia (BA).[5] Histological and imaging findings should be considered to differentiate ALGS and BA.[5],[6] Renal disease, although not a feature in our patient, is seen in about 40% of patients with ALGS.[7]

As ALGS is an autosomal dominant hereditary disorder, with variable penetrance, donors of the patient with ALGS may present without any symptoms. Bile duct paucity must be ruled out in these donors.[8] Living donors must either undergo a liver biopsy or molecular genetic testing to rule out ALGS genetic mutations.

There have been reports of combined heart-lung-LT in a pediatric patient from a deceased donor.[9] Other reports suggest that LDLT were performed in 20 patients with ALGS, but none of them underwent heart surgery to correct any defect before transplant.[6] Furthermore, reported are cases of two patients with ALGS who underwent open-heart surgery, but without combined liver transplant.[4]

In conclusion, to our knowledge, this is the first reported case of a successful combined open-heart surgery and LDLT performed in a child with ALGS. The diagnosis of ALGS is challenging and can be easily misdiagnosed as other cholestatic diseases. Perioperative and long-term management of ALGS can be particularly challenging. Successful outcomes can be achieved by multidisciplinary involvement with expertise in handling complicated conditions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the guardian has given their consent for images and other clinical information to be reported in the journal. The guardian understands that patient's name and initials will not be published and due efforts will be made to conceal the patient identity, but anonymity cannot be guaranteed.


We would like to thank Dr. Girish Warrier and Dr. Kavitha Chintala, from the Department of Paediatric Cardiology at Apollo Hospitals, Hyderabad, for their contribution to the clinical care of the patient reported.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Turnpenny PD, Ellard S. Alagille syndrome: Pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20:251-7.  Back to cited text no. 1
Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N. Systematic review: The epidemiology, natural history, and burden of Alagille syndrome. J Pediatr Gastroenterol Nutr 2018;67:148-56.  Back to cited text no. 2
Kamath BM, Schwarz KB, Hadzić N. Alagille syndrome and liver transplantation. J Pediatr Gastroenterol Nutr 2010;50:11-5.  Back to cited text no. 3
Bacha EA, Hardin J, Cronin DC, Brady L, Millis MJ, Starr JP, et al. Open-heart surgery in pediatric patients with end-stage liver disease. Ann Thorac Surg 2004;78:e30-3.  Back to cited text no. 4
Yang WH, Zhang L, Xue FS, Riaz A, Zhu ZJ. Pediatric liver transplantation for Alagille syndrome: Anesthetic evaluation and perioperative management. Ann Transplant 2020;25:e924282.  Back to cited text no. 5
Kasahara M, Kiuchi T, Inomata Y, Uryuhara K, Sakamoto S, Ito T, et al. Living-related liver transplantation for Alagille syndrome. Transplantation 2003;75:2147-50.  Back to cited text no. 6
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 1999;29:822-9.  Back to cited text no. 7
Gurkan A, Emre S, Fishbein TM, Brady L, Millis M, Birnbaum A, et al. Unsuspected bile duct paucity in donors for living-related liver transplantation: Two case reports. Transplantation 1999;67:416-8.  Back to cited text no. 8
Gandhi SK, Reyes J, Webber SA, Siewers RD, Pigula FA. Case report of combined pediatric heart-lung-liver transplantation. Transplantation 2002;73:1968-9.  Back to cited text no. 9


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