{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T04:05:47Z","timestamp":1776485147694,"version":"3.51.2"},"reference-count":28,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T00:00:00Z","timestamp":1666137600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background. Congenital absence of the portal vein (CAPV) is an extremely rare malformation that is caused by aberrant venous development during embryogenesis and is usually associated with congenital portosystemic shunts (CPSS). This hemodynamic allows mesenteric blood to bypass the liver metabolism and causes an imbalance between vasodilators and vasoconstrictors in the pulmonary circulation, which, again, might lead to the development of secondary portopulmonary hypertension (PoPH). Establishing the exact morphology of the splanchnic venous system is important when evaluating possible therapeutic options (differentiating type I and II CAPV), because some variants enable the closure of the shunt, and this represents a potential cure for pulmonary arterial hypertension (PAH). Once PoPH is diagnosed, complex care in a specialized expert centre is necessary. If possible, CPSS closure is recommended. For long-term successful patient management, specific targeted PAH therapy administration is crucial. Significant morbidity and mortality in these patients may result not only from PAH itself but also due to specific PoPH complications, such as compression of the left main coronary artery by pulmonary artery aneurysm. Case Report. We report on two patients with PoPH due to CAPV and CPSS (without any liver disease) who presented as severe PAH and who, before admission to our expert centre, were misdiagnosed as idiopathic PAH. The case reports also represent our experience with respect to the long-term follow-up and PAH-specific medical treatment of these patients, as well as the possible (even fatal) complications of these rare and complex patients.<\/jats:p>","DOI":"10.3390\/medicina58101484","type":"journal-article","created":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T22:19:53Z","timestamp":1666217993000},"page":"1484","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Congenital Absence of the Portal Vein as a Rare Cause of Portopulmonary Hypertension\u2014A Case Study Series"],"prefix":"10.3390","volume":"58","author":[{"given":"Tereza","family":"Hlavata","sequence":"first","affiliation":[{"name":"Department of Cardiology and Angiology, Adult Congenital Heart Disease Department, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Kaldararova","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Angiology, Adult Congenital Heart Disease Department, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1964-7612","authenticated-orcid":false,"given":"Filip","family":"Klauco","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Angiology, Adult Congenital Heart Disease Department, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Drangova","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Reptova","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Angiology, Adult Congenital Heart Disease Department, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iveta","family":"Simkova","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Angiology, Adult Congenital Heart Disease Department, Medical Faculty, Slovak Medical University and The National Institute of Cardiovascular Diseases, Pod Krasnou Horkou 1, 833 48 Bratislava, Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1002\/ccd.26362","article-title":"Catheter Interventional Treatment of Congenital Portosystemic Venous Shunts in Childhood","volume":"87","author":"Knirsch","year":"2016","journal-title":"Catheter. Cardiovasc. Interv."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ihj.2020.12.015","article-title":"Congenital Extrahepatic Portocaval Malformation: Rare but Potentially Treatable Cause of Pulmonary Hypertension","volume":"73","author":"Bobhate","year":"2021","journal-title":"Indian Heart J."},{"key":"ref_3","first-page":"100","article-title":"Account of Two Instances of Uncommon Formation in the Viscera of the Human Body: From the Philosophical Transactions of the Royal Society of London","volume":"7","author":"Abernethy","year":"1797","journal-title":"Med. Facts Obs."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1016\/0022-3468(94)90812-5","article-title":"Congenital Absence of the Portal Vein: Two Cases and a Proposed Classification System for Portasystemic Vascular Anomalies","volume":"29","author":"Morgan","year":"1994","journal-title":"J. Pediatr. Surg."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s002470050580","article-title":"Congenital Absence of the Portal Vein in a Boy","volume":"29","author":"Kohda","year":"1999","journal-title":"Pediatr. Radiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/ca.21007","article-title":"Congenital Absence of the Portal Vein--Case Report and a Review of Literature","volume":"23","author":"Mistinova","year":"2010","journal-title":"Clin. Anat."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/hep.30817","article-title":"Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study","volume":"71","author":"Baiges","year":"2020","journal-title":"Hepatology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1016\/j.jpedsurg.2015.01.009","article-title":"The Classification Based on Intrahepatic Portal System for Congenital Portosystemic Shunts","volume":"50","author":"Kanazawa","year":"2015","journal-title":"J. Pediatr. Surg."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s40477-018-0329-y","article-title":"Congenital Extrahepatic Portosystemic Shunt: Description of Four Cases and Review of the Literature","volume":"22","author":"Ponziani","year":"2018","journal-title":"J. Ultrasound"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s00276-000-0197-x","article-title":"Interruption of the Inferior Vena Cava with Azygos Termination Associated with Congenital Absence of Portal Vein","volume":"22","author":"Paineau","year":"2000","journal-title":"Surg. Radiol. Anat."},{"key":"ref_11","first-page":"455","article-title":"Congenital Absence of the Portal Vein Associated with Focal Nodular Hyperplasia in the Liver in an Adult Woman: Imaging and Review of the Literature","volume":"29","author":"Gui","year":"2004","journal-title":"Abdom. Imaging"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1440-1754.2005.00542.x","article-title":"Congenital Absence of Portal Vein Presenting as Hepatopulmonary Syndrome","volume":"41","author":"Cheung","year":"2005","journal-title":"J. Paediatr. Child Health"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"401","DOI":"10.14701\/ahbps.2021.25.3.401","article-title":"Living Donor Liver Transplantation in a Pediatric Patient with Congenital Absence of the Portal Vein","volume":"25","author":"Namgoong","year":"2021","journal-title":"Ann. Hepatobiliary Pancreat. Surg."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.acvd.2020.10.003","article-title":"Cardiovascular Disorders in Patients with Congenital Portosystemic Shunts: 23 Years of Experience in a Tertiary Referral Centre","volume":"114","author":"Lambert","year":"2021","journal-title":"Arch. Cardiovasc. Dis."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1017\/S1047951121000809","article-title":"The Multisystem Nature of Isomerism: Left Isomerism Complicated by Abernethy Malformation and Portopulmonary Hypertension","volume":"31","author":"Ringle","year":"2021","journal-title":"Cardiol. Young"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"597","DOI":"10.2169\/internalmedicine.48.1715","article-title":"Portopulmonary Hypertension Associated with Congenital Absence of the Portal Vein Treated with Bosentan","volume":"48","author":"Hino","year":"2009","journal-title":"Intern. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1801913","DOI":"10.1183\/13993003.01913-2018","article-title":"Haemodynamic Definitions and Updated Clinical Classification of Pulmonary Hypertension","volume":"53","author":"Simonneau","year":"2019","journal-title":"Eur. Respir. J."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jhep.2020.02.021","article-title":"Portopulmonary Hypertension in the Current Era of Pulmonary Hypertension Management","volume":"73","author":"Savale","year":"2020","journal-title":"J. Hepatol."},{"key":"ref_19","first-page":"849","article-title":"Pulmonary Hypertension Complicating Portal Hypertension","volume":"120","author":"Lebrec","year":"1979","journal-title":"Am. Rev. Respir Dis"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1700745","DOI":"10.1183\/13993003.00745-2017","article-title":"Pulmonary Vascular Endothelium: The Orchestra Conductor in Respiratory Diseases: Highlights from Basic Research to Therapy","volume":"51","author":"Huertas","year":"2018","journal-title":"Eur. Respir. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2","DOI":"10.3389\/fmed.2020.569413","article-title":"Portopulmonary Hypertension: From Bench to Bedside","volume":"7","author":"Thomas","year":"2020","journal-title":"Front. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"322","DOI":"10.3138\/canlivj-2020-0011","article-title":"Congenital Absence of the Portal Vein: Define the Portosystemic Shunt, Avoid Liver Transplantation","volume":"4","author":"Laverdure","year":"2021","journal-title":"CanLivJ"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ncpcardio0890","article-title":"Pulmonary Arterial Hypertension: Current Therapeutic Strategies","volume":"4","author":"Puri","year":"2007","journal-title":"Nat. Clin. Pract. Cardiovasc. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1161\/CIRCULATIONAHA.114.012907","article-title":"Aneurysms of the Pulmonary Artery","volume":"131","author":"Kreibich","year":"2015","journal-title":"Circulation"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1093\/ehjci\/jex303","article-title":"Extrinsic Compression of Left Main Coronary Artery by Aneurysmal Pulmonary Artery in Severe Pulmonary Hypertension: Its Correlates, Clinical Impact, and Management Strategies","volume":"19","author":"Akbal","year":"2018","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/S0300-8932(10)70128-7","article-title":"Complications of Proximal Pulmonary Artery Aneurysm in Patients with Severe Pulmonary Arterial Hypertension","volume":"63","author":"Escribano","year":"2010","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1378\/chest.08-2922","article-title":"Endovascular Therapy for Left Main Compression Syndrome. Case Report and Literature Review","volume":"135","author":"Caldera","year":"2009","journal-title":"Chest"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2808","DOI":"10.1016\/j.jacc.2017.03.597","article-title":"Left Main Coronary Artery Compression in Patients With Pulmonary Arterial Hypertension and Angina","volume":"69","author":"Saia","year":"2017","journal-title":"J. Am. Coll. Cardiol."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/10\/1484\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:57:01Z","timestamp":1760144221000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/10\/1484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,19]]},"references-count":28,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["medicina58101484"],"URL":"https:\/\/doi.org\/10.3390\/medicina58101484","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,19]]}}}