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Wacker J, Beghetti M. Pulmonary hypertension in pediatrics: from clinical suspicion to management. Eur J Pediatr 2025; 184:288. [PMID: 40204979 PMCID: PMC11982064 DOI: 10.1007/s00431-025-06099-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/05/2025] [Revised: 03/03/2025] [Accepted: 03/14/2025] [Indexed: 04/11/2025]
Abstract
Pediatric pulmonary hypertension differs from adult pulmonary hypertension in many ways, including multifactorial etiologies and comorbidities that can impact diagnosis, response to therapy, and outcome. The main etiologies of pediatric PH are idiopathic pulmonary arterial hypertension (PAH), PAH associated with congenital heart disease (PAH-CDH) and developmental lung disorders. Thorough diagnostic evaluation is necessary to properly classify pulmonary hypertension, find a potential treatable cause, and guide therapy. Diagnosis still relies on invasive hemodynamics that require sedation in most children. Management of pediatric pulmonary hypertension is mainly guided by small-scale studies, expert opinion, and extrapolation of adult data considering the paucity of trials in this population. The aim of this review is to provide an up-to-date summary of current knowledge on pediatric pulmonary hypertension, covering diagnosis to management, and to highlight the key takeaways from the pediatric task force of the 7th World Symposium on Pulmonary Hypertension, particularly regarding classification modifications, risk stratification, and management. What is known: • Pediatric pulmonary hypertension is a rare condition, with the main etiologies being idiopathic, associated with congenital heart disease and developmental lung disorders. • A risk-oriented treatment approach is recommended, with lower-risk mortality as the therapeutic target. Treatment should be escalated if the treatment response is unsatisfactory. What is new: • Classification of pulmonary arterial hypertension associated with congenital heart disease is expanded beyond the concept of a shunt. • Risk stratification is refined through the use of 25 validated risk factors.
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Affiliation(s)
- Julie Wacker
- Pediatric Cardiology Unit, Department of Pediatrics, Gynecology, and Obstetrics, Geneva University Hospitals, Rue Willy Donzé 6, 1211 Genève 14, Geneva, Switzerland.
- Pulmonary Hypertension Program, Geneva University Hospitals, Geneva, Switzerland.
| | - Maurice Beghetti
- Pediatric Cardiology Unit, Department of Pediatrics, Gynecology, and Obstetrics, Geneva University Hospitals, Rue Willy Donzé 6, 1211 Genève 14, Geneva, Switzerland
- Pulmonary Hypertension Program, Geneva University Hospitals, Geneva, Switzerland
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Wacker J, Joye R, Genecand L, Lador F, Beghetti M. The evolution of clinical trials for pediatric pulmonary hypertension: are the needs of patients and their caregivers being met? Expert Rev Clin Pharmacol 2024; 17:793-801. [PMID: 39171351 DOI: 10.1080/17512433.2024.2396119] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2024] [Revised: 07/30/2024] [Accepted: 08/20/2024] [Indexed: 08/23/2024]
Abstract
INTRODUCTION Pediatric pulmonary hypertension is a rare condition. Survival remains poor in the current management era. There is a lack of data regarding the medical management of pediatric pulmonary hypertension and most pulmonary vasodilators are used off-label in children. AREAS COVERED Pediatric pulmonary hypertension clinical trials' design and realization face many hurdles, including poor recruitment, limited available pharmacologic and physiologic data in children of various ages, ethical issues, and the lack of validated trial endpoint. Innovative clinical trial designs have emerged and may allow us to overcome some of these issues. Extrapolation of adult data to children, with additional pharmacokinetic and safety data, remains extremely important and valid in etiologies where the pediatric and the adult pathophysiologies are believed to be similar. EXPERT OPINION Close collaboration between sponsors, regulators, patients, caregivers, physicians and researchers is necessary to develop efficacious and safe drugs for pediatric pulmonary hypertension. The increasing involvement of patients' and caregivers' participation in the development of clinical trials should help shape future research that is feasible and meaningful to the patients.
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Affiliation(s)
- Julie Wacker
- Pulmonary Hypertension Program, University Hospitals of Geneva, Geneva, Switzerland
- Pediatric Cardiology Unit, Department of Women, Child and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Raphael Joye
- Pulmonary Hypertension Program, University Hospitals of Geneva, Geneva, Switzerland
- Pediatric Cardiology Unit, Department of Women, Child and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Leon Genecand
- Pulmonary Hypertension Program, University Hospitals of Geneva, Geneva, Switzerland
- Division of Pulmonary Medicine, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Frederic Lador
- Pulmonary Hypertension Program, University Hospitals of Geneva, Geneva, Switzerland
- Division of Pulmonary Medicine, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Maurice Beghetti
- Pulmonary Hypertension Program, University Hospitals of Geneva, Geneva, Switzerland
- Pediatric Cardiology Unit, Department of Women, Child and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
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Li M, Liu L, Liu C, Chen Z, Li W, Li X, Ma X, Zhang Y. Selexipag for the Treatment of Pediatric Pulmonary Hypertension: A Systematic Review. Clin Ther 2024; 46:59-68. [PMID: 37945502 DOI: 10.1016/j.clinthera.2023.09.026] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/27/2023] [Revised: 09/27/2023] [Accepted: 09/28/2023] [Indexed: 11/12/2023]
Abstract
PURPOSE To systematically evaluate the safety, dosing regimen, and efficacy of selexipag for pediatric patients with pulmonary hypertension (PH). METHODS A literature search of the electronic databases of PubMed, Embase, Web of Science, Cochrane Library, and Google Scholar was performed from inception through February 28, 2023. Two reviewers independently searched and evaluated the quality of the studies and pooled data when appropriate. Full-text articles of studies of children diagnosed with PH and treated with selexipag were eligible. Pediatric patients with PH were classified into 2 groups: the add-on therapy group, in which selexipag was used as a third therapy in addition to the baseline treatment, and the transition therapy group, in which patients were switched from parenteral prostacyclin analogs to selexipag. FINDINGS Fourteen studies involving 58 pediatric patients with PH were included. All studies were either case reports or case series. Overall, 30 and 28 patients were in the add-on and transition therapy groups, respectively. In both groups, selexipag was initially administered as 50-200 µg twice daily and titrated to a tolerated dosage of 200-1,600 µg twice daily. Prostacyclin analogs were simultaneously weaned for patients in the transition group. In the add-on therapy group, 16 patients (80.0%) were at low risk of the World Health Organization functional class (WHO FC I/II), 12 (76.9%) were at low risk of the 6-minute walk distance (6MWD; >350 m), and 21 (95.5%) were at low risk of the pulmonary vascular resistance index (PVRi; <20 WU/m2). Furthermore, N-terminal pro-brain natriuretic peptide and mean pulmonary arterial pressure were significantly improved. More than 70% of patients experienced common tolerable side effects, such as headache, nausea, and diarrhea. In the transition therapy group, 5 patients (55.6%) were at low risk according to WHO FC I/II, 6 (66.7%) were at low risk according to 6MWD, and 14 (87.5) were at low risk according to PVRi; however, selexipag had no significant effect on their hemodynamic parameters. Additionally, more than 80% of patients experienced no side effects. IMPLICATIONS Selexipag as add-on therapy or for transition from prostacyclin analogs may have a favorable safety profile and potential efficacy for pediatric patients with PH. Further high-quality evidence of the efficacy and safety of selexipag for the treatment of pediatric PH is warranted.
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Affiliation(s)
- Meng Li
- Department of Pharmacy, Shenzhen Children's Hospital, Shenzhen, China
| | - Lin Liu
- Department of Cardiology, Shenzhen Children's Hospital, Shenzhen, China
| | - Cong Liu
- Department of Cardiology, Shenzhen Children's Hospital, Shenzhen, China
| | - Zebin Chen
- Department of Cardiology, Shenzhen Children's Hospital, Shenzhen, China
| | - Weibin Li
- Department of Cardiology, Shenzhen Children's Hospital, Shenzhen, China
| | - Xuejuan Li
- Department of Cardiology, Shenzhen Children's Hospital, Shenzhen, China
| | - Xiaopeng Ma
- Department of General Surgery, Shenzhen Children's Hospital, Shenzhen, China
| | - Yumao Zhang
- Department of Pharmacy, the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
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McLin VA, Franchi-Abella S, Brütsch T, Bahadori A, Casotti V, de Ville de Goyet J, Dumery G, Gonzales E, Guérin F, Hascoet S, Heaton N, Kuhlmann B, Lador F, Lambert V, Marra P, Plessier A, Quaglia A, Rougemont AL, Savale L, Sarma MS, Sitbon O, Superina RA, Uchida H, van Albada M, van der Doef HPJ, Vilgrain V, Wacker J, Zwaveling N, Debray D, Wildhaber BE. Expert management of congenital portosystemic shunts and their complications. JHEP Rep 2024; 6:100933. [PMID: 38234409 PMCID: PMC10792643 DOI: 10.1016/j.jhepr.2023.100933] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/09/2023] [Revised: 09/18/2023] [Accepted: 09/25/2023] [Indexed: 01/19/2024] Open
Abstract
Congenital portosystemic shunts are often associated with systemic complications, the most challenging of which are liver nodules, pulmonary hypertension, endocrine abnormalities, and neurocognitive dysfunction. In the present paper, we offer expert clinical guidance on the management of liver nodules, pulmonary hypertension, and endocrine abnormalities, and we make recommendations regarding shunt closure and follow-up.
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Affiliation(s)
- Valérie Anne McLin
- Swiss Pediatric Liver Center, Gastroenterology, Hepatology and Pediatric
Nutrition Unit, Department of Pediatrics, Gynecology and Obstetrics, University
of Geneva, Geneva, Switzerland
- ERN RARE LIVER
| | - Stéphanie Franchi-Abella
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- AP-HP, Centre de référence des maladies rares du foie de l’enfant,
Service de radiologie pédiatrique diagnostique et interventionnelle, Hôpital
Bicêtre, Le Kremlin-Bicêtre, France
- BIOMAPS UMR 9011 CNRS, INSERM, CEA, Orsay, France
- ERN RARE LIVER
- ERN Transplant Child
| | | | - Atessa Bahadori
- Department of Pediatrics, Gynecology and Obstetrics, University of
Geneva, Geneva, Switzerland
| | - Valeria Casotti
- ERN Transplant Child
- Pediatric Hepatology, Gastroenterology and Transplant Centre, ASST Papa
Giovanni XXIII Hospital, Bergamo, Italy
| | - Jean de Ville de Goyet
- Pediatric Department for the Treatment and Study of Abdominal Diseases
and Abdominal Transplantation, ISMETT UPMC, Palermo, Italy
| | - Grégoire Dumery
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- AP-HP, Service de gynécologie et d’obstétrique, Hôpital Bicêtre, Le
Kremlin-Bicêtre, France
| | - Emmanuel Gonzales
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- ERN RARE LIVER
- ERN Transplant Child
- AP-HP, Centre de référence des maladies rares du foie de l’enfant, FHU
Hepatinov, Service d’hépatologie et transplantation hépatique pédiatriques,
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
- INSERM UMRS_1193, Orsay, France
| | - Florent Guérin
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- ERN RARE LIVER
- ERN Transplant Child
- AP-HP, Service de chirurgie pédiatrique, Hôpital Bicêtre, Le
Kremlin-Bicêtre, France
| | - Sebastien Hascoet
- Department of Congenital Heart Diseases, Hôpital Marie Lannelongue,
France
- INSERM UMR_S 999, Université Paris, France
| | - Nigel Heaton
- Institute of Liver Studies, Kings College Hospital, London,
England
| | - Béatrice Kuhlmann
- Pediatric Endocrinology, Cantonal Hospital Aarau KSA, Aarau,
Switzerland
| | - Frédéric Lador
- Service de Pneumologie, University of Geneva, Geneva,
Switzerland
| | - Virginie Lambert
- AP-HP, Centre de référence des maladies rares du foie de l’enfant,
Service de radiologie pédiatrique diagnostique et interventionnelle, Hôpital
Bicêtre, Le Kremlin-Bicêtre, France
- Cardiologie congénitale, Institut Mutualiste Montsouris, Paris,
France
| | - Paolo Marra
- Department of Radiology, Papa Giovanni XXIII Hospital, School of Medicine
and Surgery - University of Milano-Bicocca, Bergamo, Italy
| | - Aurélie Plessier
- ERN RARE LIVER
- Centre de référence des maladies vasculaires du foie, Service
d’hépatologie Hôpital Beaujon, Clichy, France
- VALDIG
| | - Alberto Quaglia
- Department of Cellular Pathology, Royal Free London NHS Foundation
Trust/UCL Cancer Institute, London, England
| | - Anne-Laure Rougemont
- Swiss Pediatric Liver Center, Division of Clinical Pathology, Diagnostic
Department, University of Geneva, Geneva, Switzerland
| | - Laurent Savale
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- AP-HP, Centre de référence de l’hypertension pulmonaire, Service de
pneumologie et soins intensifs respiratoires, Hôpital Bicêtre, Le
Kremlin-Bicêtre, France
- INSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis Robinson,
France
- ERN Lung
| | - Moinak Sen Sarma
- Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate
Institute of Medical Sciences, Lucknow, India
| | - Olivier Sitbon
- Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre,
France
- AP-HP, Centre de référence de l’hypertension pulmonaire, Service de
pneumologie et soins intensifs respiratoires, Hôpital Bicêtre, Le
Kremlin-Bicêtre, France
- INSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis Robinson,
France
- ERN Lung
| | - Riccardo Antonio Superina
- Northwestern University Feinberg School of Medicine, Ann & Robert H.
Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA
| | - Hajime Uchida
- Organ Transplantation Center, National Center for Child Health and
Development, Tokyo, Japan
| | - Mirjam van Albada
- Department of paediatric and congenital cardiology, University Medical
Center Groningen, University of Groningen, The Netherlands
| | - Hubert Petrus Johannes van der Doef
- Division of paediatric gastroenterology and hepatology, Department of
paediatrics, University Medical Center Groningen, Groningen, The
Netherlands
| | - Valérie Vilgrain
- ERN RARE LIVER
- VALDIG
- Université Paris Cité, CRI, INSERM, Paris, France
- AP-HP, Département de Radiologie, Hôpital Beaujon. Nord, Clichy,
France
| | - Julie Wacker
- Pediatric Cardiology Unit, Department of pediatrics, Gynecology and
Obstetrics, University of Geneva, Geneva, Switzerland
- Centre Universitaire Romand de Cardiologie et Chirurgie Cardiaque
Pédiatrique, University of Geneva and Lausanne, Switzerland
| | - Nitash Zwaveling
- Department of Pediatric Endocrinology, Amsterdam University Medical
Centers, University of Amsterdam, Amsterdam, The Netherlands
| | - Dominique Debray
- ERN RARE LIVER
- ERN Transplant Child
- AP-HP, Unité d’hépatologie pédiatrique et transplantation hépatique,
Hôpital Necker, Paris, France
- Centre de Référence des maladies rares du foie de l’enfant, FILFOIE,
France
| | - Barbara Elisabeth Wildhaber
- ERN RARE LIVER
- Swiss pediatric Liver Center, Division of pediatric surgery, Department
of Pediatrics, Gynecology, and Obstetrics, University of Geneva, Geneva,
Switzerland
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Banc-Husu AM, Shiau H, Dike P, Shneider BL. Beyond Varices: Complications of Cirrhotic Portal Hypertension in Pediatrics. Semin Liver Dis 2023; 43:100-116. [PMID: 36572031 DOI: 10.1055/s-0042-1759613] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/28/2022]
Abstract
Complications of cirrhotic portal hypertension (PHTN) in children are broad and include clinical manifestations ranging from variceal hemorrhage, hepatic encephalopathy (HE), ascites, spontaneous bacterial peritonitis (SBP), and hepatorenal syndrome (HRS) to less common conditions such as hepatopulmonary syndrome, portopulmonary hypertension, and cirrhotic cardiomyopathy. The approaches to the diagnosis and management of these complications have become standard of practice in adults with cirrhosis with many guidance statements available. However, there is limited literature on the diagnosis and management of these complications of PHTN in children with much of the current guidance available focused on variceal hemorrhage. The aim of this review is to summarize the current literature in adults who experience these complications of cirrhotic PHTN beyond variceal hemorrhage and present the available literature in children, with a focus on diagnosis, management, and liver transplant decision making in children with cirrhosis who develop ascites, SBP, HRS, HE, and cardiopulmonary complications.
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Affiliation(s)
- Anna M Banc-Husu
- Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas
| | - Henry Shiau
- Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama
| | - Peace Dike
- Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas
| | - Benjamin L Shneider
- Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas
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Uchida H, Sakamoto S, Yanagi Y, Shimizu S, Fukuda A, Ono H, Miyazaki O, Nosaka S, Schlegel A, Kasahara M. Significance of a multidisciplinary approach to congenital extrahepatic portosystemic shunt: A changing paradigm for the treatment. Hepatol Res 2023. [PMID: 36650641 DOI: 10.1111/hepr.13882] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/24/2022] [Revised: 12/20/2022] [Accepted: 01/12/2023] [Indexed: 01/19/2023]
Abstract
AIM To review the current institutional practice to treat patients with congenital extrahepatic portosystemic shunt (CEPS) and to determine the optimal strategy. METHODS We retrospectively reviewed the records of 55 patients diagnosed with CEPS at our center between December 2008 and March 2022. RESULTS Among these 55 patients, 44 (80.0%) received treatment for CEPS at a median age of 4.7 years. The most common indication for treatment was cardiopulmonary complications (45.5%). Therapeutic intervention included shunt closure by endovascular techniques (50.0%) or surgery (40.9%), and liver transplantation (9.1%). A total of 11 were classified as short shunt types, and surgical ligation was performed in all to preserve the major vascular system and prevent complications (p < 0.001). Children who received a surgical ligation were more likely to develop complications after shunt closure (p = 0.02). Among seven patients with portopulmonary hypertension (POPH), one patient, who received a shunt ligation at <1 year-of-age, was only able to completely discontinue medication. Most other CEPS-related complications were completely resolved. Post-treatment complications, including thrombosis and symptoms of portal hypertension, were seen in 16 patients. After shunt closure, one patient was scheduled to undergo liver transplantation for progressive POPH and large residual hepatocellular adenoma. During follow-up, one patient without any treatment for CEPS developed POPH 16 years from the diagnosis. CONCLUSION Earlier therapeutic interventions should be strongly considered for patients with POPH related to CEPS. However, in view of the invasiveness and treatment complications, special attention should be paid to the management of patients with short shunt types.
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Affiliation(s)
- Hajime Uchida
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Seisuke Sakamoto
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Yusuke Yanagi
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Seiichi Shimizu
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Akinari Fukuda
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Hiroshi Ono
- Division of Cardiology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Osamu Miyazaki
- Division of Radiology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Shunsuke Nosaka
- Division of Radiology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
| | - Andrea Schlegel
- Department of Surgery and Transplantation, University Hospital Zurich, Zurich, Switzerland.,Center for Preclinical Research, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Mureo Kasahara
- Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan
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Valencia E, Vakili K, Thiagarajan RR, Mullen MP, Fynn-Thompson F, Weldon CB, Duvall MG. Case 2-2022: An Adolescent Male in Cardiac Arrest 3 Days After Liver Transplantation for End-Stage Liver Disease. Pediatr Crit Care Med 2022; 23:e440-e450. [PMID: 35969659 PMCID: PMC9426743 DOI: 10.1097/pcc.0000000000002994] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Affiliation(s)
- Eleonore Valencia
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA
- Department of Cardiology, Boston Children's Hospital, Boston, MA
| | | | | | - Mary P Mullen
- Department of Cardiology, Boston Children's Hospital, Boston, MA
| | | | - Christopher B Weldon
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA
- Department of Surgery, Boston Children's Hospital, Boston, MA
- Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA
| | - Melody G Duvall
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA
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Bahadori A, Kuhlmann B, Debray D, Franchi-Abella S, Wacker J, Beghetti M, Wildhaber BE, McLin VA. Presentation of Congenital Portosystemic Shunts in Children. CHILDREN (BASEL, SWITZERLAND) 2022; 9:children9020243. [PMID: 35204963 PMCID: PMC8870378 DOI: 10.3390/children9020243] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 11/21/2021] [Revised: 12/31/2021] [Accepted: 01/25/2022] [Indexed: 12/12/2022]
Abstract
Background: Congenital portosystemic shunts (CPSS) are rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births. CPSS can present at any age as a multi-system disease of variable severity mimicking both common and rare pediatric conditions. Case presentations: Case A: A vascular malformation was identified in the liver of a 10-year-old girl with tall stature, advanced somatic maturation, insulin resistance with hyperinsulinemia, hyperandrogenemia and transient hematuria. Work-up also suggested elevated pulmonary pressures. Case B: A young girl with trisomy 8 mosaicism with a history of neonatal hypoglycemia, transient neonatal cholestasis and tall stature presented newly increased aminotransferase levels at 6 years of age. Case C: A 3-year-old boy with speech delay, tall stature and abdominal pain underwent abdominal ultrasound (US) showing multiple liver nodules, diagnosed as liver hemangiomas by hepatic magnetic resonance imaging (MRI). Management and outcome: After identification of a venous malformation on liver Doppler US, all three patients were referred to a specialized liver center for further work-up within 12 to 18 months from diagnosis. Angio-computed tomography (CT) scan confirmed the presence of either an intrahepatic or extrahepatic CPSS with multiples liver nodules. All three had a hyperintense signal in the globus pallidus on T1 weighted cerebral MRI. Right heart catheterization confirmed pulmonary hypertension in cases A and C. Shunts were closed either using an endovascular or surgical approach. Liver nodules were either surgically removed if there was a risk of malignant degeneration or closely monitored by serial imaging when benign. Conclusion: These cases illustrate most of the common chief complaints and manifestations of CPSS. Liver Doppler US is the key to diagnosis. Considering portosystemic shunts in the diagnostic work-up of a patient with unexplained endocrine, liver, gastro-intestinal, cardiovascular, hematological, renal or neurocognitive disorder is important as prompt referral to a specialized center may significantly impact patient outcome.
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Affiliation(s)
- Atessa Bahadori
- Pediatric Specialties Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland; (J.W.); (M.B.)
- Correspondence:
| | - Beatrice Kuhlmann
- Pediatric Endocrinology, Cantonal Hospital Aarau, 5001 Aarau, Switzerland;
| | - Dominique Debray
- Pediatric Liver Unit, Necker Hospital, APHP, Paris Centre University, 75015 Paris, France;
| | - Stephanie Franchi-Abella
- Pediatric Radiology, Paris-Saclay University, Hôpital Bicêtre, Hôpitaux Paris-Saclay APHP, 94270 Paris, France;
| | - Julie Wacker
- Pediatric Specialties Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland; (J.W.); (M.B.)
- Pulmonary Hypertension Program, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
- Pediatric Cardiology Unit, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
| | - Maurice Beghetti
- Pediatric Specialties Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland; (J.W.); (M.B.)
- Pulmonary Hypertension Program, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
- Pediatric Cardiology Unit, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
| | - Barbara E. Wildhaber
- Swiss Pediatric Liver Center, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland; (B.E.W.); (V.A.M.)
- Child and Adolescent Surgery Division, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
| | - Valérie Anne McLin
- Swiss Pediatric Liver Center, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland; (B.E.W.); (V.A.M.)
- Pediatric Gastroenterology, Hepatology and Nutrition Unit, Department of Pediatrics, Gynecology, and Obstetrics, University Hospitals Geneva (HUG), University of Geneva, 1211 Geneva, Switzerland
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9
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Uchida H, Sakamoto S, Kasahara M. Reply. Liver Transpl 2021; 27:1214. [PMID: 33787073 DOI: 10.1002/lt.26059] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/12/2021] [Accepted: 03/16/2021] [Indexed: 01/13/2023]
Affiliation(s)
- Hajime Uchida
- Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
| | - Seisuke Sakamoto
- Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
| | - Mureo Kasahara
- Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan
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McLin V, Beghetti M, D'Antiga L, Franchi-Abella S. Current Quandaries in the Management of Congenital Portosystemic Shunts. Liver Transpl 2021; 27:1212-1213. [PMID: 33749116 DOI: 10.1002/lt.26055] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/04/2021] [Accepted: 03/16/2021] [Indexed: 01/13/2023]
Affiliation(s)
- Valérie McLin
- Swiss Pediatric Liver Center, University Hospitals Geneva, Geneva, Switzerland
| | - Maurice Beghetti
- Pediatric Cardiology, University Hospitals Geneva, Geneva, Switzerland
| | - Lorenzo D'Antiga
- Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy
| | - Stéphanie Franchi-Abella
- Pediatric Radiology Department, Pediatric Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre, Hôpitaux Universitaire Paris-Saclay Assistance Publique Hôpitaux de Paris, Paris, France
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