Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies

Saboo SS, Chamarthy M, Bhalla S, Park H, Sutphin P, Kay F, et al. Pulmonary arteriovenous malformations: diagnosis. Cardiovasc Diagn Ther. 2018;8(3):325–37.

Article  PubMed  PubMed Central  Google Scholar 

Liu J, Yang J, Tang X, Li H, Shen Y, Gu W et al. Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a chinese family. Pediatrics. 2020;146(2).

Ikubo Y, Kasai H, Sugiura T, Saito T, Shoji H, Sakao S, et al. Pulmonary hypertension that developed during treatment for Hepatopulmonary Syndrome and Pulmonary Arteriovenous Malformation. Intern Med. 2019;58(12):1765–9.

Article  PubMed  PubMed Central  Google Scholar 

Onay ZR, Ramasli Gursoy T, Aslan AT, Sismanlar Eyuboglu T, Akkan K. Hepatopulmonary Syndrome and multiple arteriovenous fistulas in a child with Niemann-Pick Disease. Pediatr Allergy Immunol Pulmonol. 2021;34(1):30–2.

Article  PubMed  PubMed Central  Google Scholar 

Büyükyavuz I, Ekinci S, Haliloğlu M, Senocak ME, Ciftçi AO. A case of patent ductus venosus with pulmonary arterio-venous fistula as a rare and unique clinical entity. Turk J Pediatr. 2004;46(3):272–4.

PubMed  Google Scholar 

Majumdar S, McWilliams JP. Approach to Pulmonary Arteriovenous Malformations: a Comprehensive Update. J Clin Med. 2020;9(6).

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73–87.

Article  CAS  PubMed  Google Scholar 

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, et al. Second International Guidelines for the diagnosis and management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020;173(12):989–1001.

Article  PubMed  Google Scholar 

Mowers KL, Sekarski L, White AJ, Grady RM. Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study. Pulm Circ. 2018;8(3):2045894018786696.

Article  PubMed  PubMed Central  Google Scholar 

Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, et al. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019;14(1):28.

Article  PubMed  PubMed Central  Google Scholar 

Al-Samkari H. Systemic antiangiogenic therapies for bleeding in Hereditary Hemorrhagic Telangiectasia: a practical, evidence-based guide for clinicians. Semin Thromb Hemost; 2022.

Al-Samkari H, Eng W. A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies. J Thromb Haemost. 2022;20(5):1077–88.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Gent M, Post MC, Snijder RJ, Swaans MJ, Plokker H, Westermann C, et al. Grading of pulmonary right-to-left shunt with transthoracic contrast echocardiography: does it predict the indication for embolotherapy. Chest. 2009;135(5):1288–92.

Article  PubMed  Google Scholar 

Anderson E, Sharma L, Alsafi A, Shovlin CL. Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia. Thorax. 2022.

Ono K, Obara T, Takeshita M, Inoue S, Mizukawa S, Hasegawa H, et al. A case of hereditary hemorrhagic telangiectasia with hepatic encephalopathy due to portal hepatic venous shunt. Nihon Ronen Igakkai Zasshi. 2017;54(2):179–85.

Article  PubMed  Google Scholar 

El Hajjam M, Mekki A, Palmyre A, Eyries M, Soubrier F, Bourgault Villada I, et al. RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports. J Med Genet. 2021;58(9):645–7.

Article  PubMed  Google Scholar 

Kamata S, Kitayama Y, Usui N, Kuroda S, Nose K, Sawai T, et al. Patent ductus venosus with a hypoplastic intrahepatic portal system presenting intrapulmonary shunt: a case treated with banding of the ductus venosus. J Pediatr Surg. 2000;35(4):655–7.

Article  CAS  PubMed  Google Scholar 

Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ. Future treatments for hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2020;15(1):4.

Article  PubMed  PubMed Central  Google Scholar 

Ren AA, Snellings DA, Su YS, Hong CC, Castro M, Tang AT, et al. PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. 2021;594(7862):271–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Raevens S, Geerts A, Paridaens A, Lefere S, Verhelst X, Hoorens A, et al. Placental growth factor inhibition targets pulmonary angiogenesis and represents a therapy for hepatopulmonary syndrome in mice. Hepatology. 2018;68(2):634–51.

Article  CAS  PubMed  Google Scholar 

Chen D, Hughes ED, Saunders TL, Wu J, Vasquez M, Makinen T et al. Angiogenesis depends upon EPHB4-mediated export of collagen IV from vascular endothelial cells. JCI Insight. 2022;7(4).

Ola R, Dubrac A, Han J, Zhang F, Fang JS, Larrivée B, et al. PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia. Nat Commun. 2016;7:13650.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hutchins KK, Ross RD, Kobayashi D, Martin A, Rajpurkar M. Treatment of Refractory Infantile Hemangiomas and Pulmonary Hypertension with Sirolimus in a Pediatric patient. J Pediatr Hematol Oncol. 2017;39(7):e391–1393.

Article  PubMed  Google Scholar 

Adams DM, Trenor CC 3rd, Hammill AM, Vinks AA, Patel MN, Chaudry G, et al. Efficacy and safety of Sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016;137(2):e20153257.

Article  PubMed  PubMed Central  Google Scholar 

Patel JD, Briones M, Mandhani M, Jones S, Suthar D, Gray R, et al. Systemic Sirolimus Therapy for Infants and Children with Pulmonary Vein Stenosis. J Am Coll Cardiol. 2021;77(22):2807–18.

Article  CAS  PubMed  Google Scholar 

Chang CC, Chuang CL, Hsin IF, Hsu SJ, Huang HC, Lee FY, et al. A high-dose rapamycin treatment alleviates hepatopulmonary syndrome in cirrhotic rats. J Chin Med Assoc. 2020;83(1):32–40.

Article  CAS  PubMed  Google Scholar 

Ruiz S, Zhao H, Chandakkar P, Papoin J, Choi H, Nomura-Kitabayashi A et al. Correcting Smad1/5/8, mTOR, and VEGFR2 treats pathology in hereditary hemorrhagic telangiectasia models. J Clin Invest. 2019.

Marx M, Huber WD, Crone J, Lammer J, Perneczky-Hintringer E, Heller S, et al. Interventional stent implantation in a child with patent ductus venosus and pulmonary hypertension. Eur J Pediatr. 2001;160(8):501–4.

Article  CAS  PubMed  Google Scholar 

Segura-Ibarra V, Amione-Guerra J, Cruz-Solbes AS, Cara FE, Iruegas-Nunez DA, Wu S, et al. Rapamycin nanoparticles localize in diseased lung vasculature and prevent pulmonary arterial hypertension. Int J Pharm. 2017;524(1–2):257–67.

Article  CAS  PubMed  Google Scholar 

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