{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:43:32Z","timestamp":1760402612620,"version":"build-2065373602"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,13]]},"DOI":"10.7759\/cureus.94471","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:54:43Z","timestamp":1760363683000},"source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Profound Pulmonary Venous Malformation in an Elderly Individual With Three Major Comorbidities: Genetic Insights"],"prefix":"10.7759","author":[{"given":"Andrey","family":"Frolov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophia","family":"Izhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha  M","family":"Spence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beker","family":"Karadaghy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Schwab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel T","family":"Daly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.334125043","article-title":"Learning from the pulmonary veins","volume":"33","author":"Porres DV","year":"2013","unstructured":"Porres DV, Morenza OP, Pallisa E, Roque A, Andreu J, Mart\u00ednez M. Learning from the pulmonary veins. Radiographics. 2013, 33:999-1022. 10.1148\/rg.334125043","journal-title":"Radiographics"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00103.2004","article-title":"Role of veins in regulation of pulmonary circulation","volume":"288","author":"Gao Y","year":"2005","unstructured":"Gao Y, Raj JU. Role of veins in regulation of pulmonary circulation. Am J Physiol Lung Cell Mol Physiol. 2005, 288:L213-26. 10.1152\/ajplung.00103.2004","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.646166","article-title":"Congenital and acquired pulmonary vein stenosis","volume":"115","author":"Latson LA","year":"2007","unstructured":"Latson LA, Prieto LR. Congenital and acquired pulmonary vein stenosis. Circulation. 2007, 115:103-8. 10.1161\/CIRCULATIONAHA.106.646166","journal-title":"Circulation"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022055","article-title":"Development of the pulmonary vein and the systemic venous sinus: an interactive 3D overview","volume":"6","author":"van den Berg G","year":"2011","unstructured":"van den Berg G, Moorman AF. Development of the pulmonary vein and the systemic venous sinus: an interactive 3D overview. PLoS One. 2011, 6:e22055. 10.1371\/journal.pone.0022055","journal-title":"PLoS One"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/RTI.0b013e3180317aaf","article-title":"CT of the pulmonary veins","volume":"22","author":"Lacomis JM","year":"2007","unstructured":"Lacomis JM, Goitein O, Deible C, Schwartzman D. CT of the pulmonary veins. J Thorac Imaging. 2007, 22:63-76. 10.1097\/RTI.0b013e3180317aaf","journal-title":"J Thorac Imaging"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000061951.81767.4E","article-title":"Pulmonary vein anatomy in patients undergoing catheter ablation of atrial fibrillation: lessons learned by use of magnetic resonance imaging","volume":"107","author":"Kato R","year":"2003","unstructured":"Kato R, Lickfett L, Meininger G, et al.. Pulmonary vein anatomy in patients undergoing catheter ablation of atrial fibrillation: lessons learned by use of magnetic resonance imaging. Circulation. 2003, 107:2004-10. 10.1161\/01.CIR.0000061951.81767.4E","journal-title":"Circulation"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2018.11.008","article-title":"Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection","volume":"38","author":"Shi X","year":"2018","unstructured":"Shi X, Huang T, Wang J, et al.. Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection. EBioMedicine. 2018, 38:217-27. 10.1016\/j.ebiom.2018.11.008","journal-title":"EBioMedicine"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-0716-0904-0_15","article-title":"Research progress in pathogenesis of total anomalous pulmonary venous connection","volume":"2204","author":"Shi X","year":"2020","unstructured":"Shi X, Lu Y, Sun K. Research progress in pathogenesis of total anomalous pulmonary venous connection. Methods Mol Biol. 2020, 2204:173-8. 10.1007\/978-1-0716-0904-0_15","journal-title":"Methods Mol Biol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.87905","article-title":"Anatomical insights into profound pulmonary venous malformation in an elderly individual: a report of a rare cadaveric case","volume":"17","author":"Schwab M","year":"2025","unstructured":"Schwab M, Spence S, Izhar S, Frolov A, Tan Y, Daly DT. Anatomical insights into profound pulmonary venous malformation in an elderly individual: a report of a rare cadaveric case. Cureus. 2025, 17:e87905. 10.7759\/cureus.87905","journal-title":"Cureus"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.56023","article-title":"Two cases of sporadic amyotrophic lateral sclerosis with contrasting clinical phenotypes: genetic insights","volume":"16","author":"Frolov A","year":"2024","unstructured":"Frolov A, Guzman MA, Hayat G, Martin JR 3rd. Two cases of sporadic amyotrophic lateral sclerosis with contrasting clinical phenotypes: genetic insights. Cureus. 2024, 16:e56023. 10.7759\/cureus.56023","journal-title":"Cureus"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/s41556-018-0215-z","article-title":"Deregulation of CRAD-controlled cytoskeleton initiates mucinous colorectal cancer via \u03b2-catenin","volume":"20","author":"Jung YS","year":"2018","unstructured":"Jung YS, Wang W, Jun S, et al.. Deregulation of CRAD-controlled cytoskeleton initiates mucinous colorectal cancer via \u03b2-catenin. Nat Cell Biol. 2018, 20:1303-14. 10.1038\/s41556-018-0215-z","journal-title":"Nat Cell Biol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200209057","article-title":"Pointed-end capping by tropomodulin3 negatively regulates endothelial cell motility","volume":"161","author":"Fischer RS","year":"2003","unstructured":"Fischer RS, Fritz-Six KL, Fowler VM. Pointed-end capping by tropomodulin3 negatively regulates endothelial cell motility. J Cell Biol. 2003, 161:371-80. 10.1083\/jcb.200209057","journal-title":"J Cell Biol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1199","article-title":"Eps8 controls actin-based motility by capping the barbed ends of actin filaments","volume":"6","author":"Disanza A","year":"2004","unstructured":"Disanza A, Carlier MF, Stradal TE, et al.. Eps8 controls actin-based motility by capping the barbed ends of actin filaments. Nat Cell Biol. 2004, 6:1180-8. 10.1038\/ncb1199","journal-title":"Nat Cell Biol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00947.2002","article-title":"E-Tmod capping of actin filaments at the slow-growing end is required to establish mouse embryonic circulation","volume":"284","author":"Chu X","year":"2003","unstructured":"Chu X, Chen J, Reedy MC, Vera C, Sung KL, Sung LA. E-Tmod capping of actin filaments at the slow-growing end is required to establish mouse embryonic circulation. Am J Physiol Heart Circ Physiol. 2003, 284:H1827-38. 10.1152\/ajpheart.00947.2002","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.mvr.2008.12.003","article-title":"Inhibition of angiogenesis in vitro: a central role for beta-actin dependent cytoskeletal remodeling","volume":"77","author":"Durham JT","year":"2009","unstructured":"Durham JT, Herman IM. Inhibition of angiogenesis in vitro: a central role for beta-actin dependent cytoskeletal remodeling. Microvasc Res. 2009, 77:281-8. 10.1016\/j.mvr.2008.12.003","journal-title":"Microvasc Res"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00115.2014","article-title":"Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing","volume":"47","author":"Padang R","year":"2015","unstructured":"Padang R, Bagnall RD, Tsoutsman T, Bannon PG, Semsarian C. Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing. Physiol Genomics. 2015, 47:75-87. 10.1152\/physiolgenomics.00115.2014","journal-title":"Physiol Genomics"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.5114\/wo.2017.68622","article-title":"Network analysis based on TCGA reveals hub genes in colon cancer","volume":"21","author":"Wu F","year":"2017","unstructured":"Wu F, Yuan G, Chen J, Wang C. Network analysis based on TCGA reveals hub genes in colon cancer. Contemp Oncol (Pozn). 2017, 21:136-44. 10.5114\/wo.2017.68622","journal-title":"Contemp Oncol (Pozn)"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrep.2023.101577","article-title":"Circular RNAs in atrial fibrillation: from bioinformatics analysis of circRNA-miRNA-mRNA network to serum expression","volume":"36","author":"Xue Z","year":"2023","unstructured":"Xue Z, Zhu J, Liu J, Wang L, Ding J. Circular RNAs in atrial fibrillation: from bioinformatics analysis of circRNA-miRNA-mRNA network to serum expression. Biochem Biophys Rep. 2023, 36:101577. 10.1016\/j.bbrep.2023.101577","journal-title":"Biochem Biophys Rep"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.723466","article-title":"Systematic elucidation of the aneuploidy landscape and identification of aneuploidy driver genes in prostate cancer","volume":"9","author":"Peng Y","year":"2021","unstructured":"Peng Y, Song Y, Wang H. Systematic elucidation of the aneuploidy landscape and identification of aneuploidy driver genes in prostate cancer. Front Cell Dev Biol. 2021, 9:723466. 10.3389\/fcell.2021.723466","journal-title":"Front Cell Dev Biol"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2017.05.117","article-title":"Atrial fibrillation and heart failure - cause or effect?","volume":"26","author":"Prabhu S","year":"2017","unstructured":"Prabhu S, Voskoboinik A, Kaye DM, Kistler PM. Atrial fibrillation and heart failure - cause or effect?. Heart Lung Circ. 2017, 26:967-74. 10.1016\/j.hlc.2017.05.117","journal-title":"Heart Lung Circ"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15380","article-title":"Mixed signals in heart failure: cancer rules","volume":"109","author":"Hoshijima M","year":"2002","unstructured":"Hoshijima M, Chien KR. Mixed signals in heart failure: cancer rules. J Clin Invest. 2002, 109:849-55. 10.1172\/JCI15380","journal-title":"J Clin Invest"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ejhf.1539","article-title":"Cancer and heart disease: associations and relations","volume":"21","author":"de Boer RA","year":"2019","unstructured":"de Boer RA, Meijers WC, van der Meer P, van Veldhuisen DJ. Cancer and heart disease: associations and relations. Eur J Heart Fail. 2019, 21:1515-25. 10.1002\/ejhf.1539","journal-title":"Eur J Heart Fail"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvz035","article-title":"Common risk factors for heart failure and cancer","volume":"115","author":"Meijers WC","year":"2019","unstructured":"Meijers WC, de Boer RA. Common risk factors for heart failure and cancer. Cardiovasc Res. 2019, 115:844-53. 10.1093\/cvr\/cvz035","journal-title":"Cardiovasc Res"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15205074","article-title":"New insights on the progesterone (P4) and PGRMC1\/NENF complex interactions in colorectal cancer progression","volume":"15","author":"Kami\u0144ska J","year":"2023","unstructured":"Kami\u0144ska J, Koper-Lenkiewicz OM, Ponikwicka-Tyszko D, et al.. New insights on the progesterone (P4) and PGRMC1\/NENF complex interactions in colorectal cancer progression. Cancers (Basel). 2023, 15:5074. 10.3390\/cancers15205074","journal-title":"Cancers (Basel)"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/s41388-022-02289-8","article-title":"The microRNA-3622 family at the 8p21 locus exerts oncogenic effects by regulating the p53-downstream gene network in prostate cancer progression","volume":"41","author":"Zhang Y","year":"2022","unstructured":"Zhang Y, Xu Z, Wen W, et al.. The microRNA-3622 family at the 8p21 locus exerts oncogenic effects by regulating the p53-downstream gene network in prostate cancer progression. Oncogene. 2022, 41:3186-96. 10.1038\/s41388-022-02289-8","journal-title":"Oncogene"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2019.04.012","article-title":"TRPM4 channel and cancer","volume":"454","author":"Gao Y","year":"2019","unstructured":"Gao Y, Liao P. TRPM4 channel and cancer. Cancer Lett. 2019, 454:66-9. 10.1016\/j.canlet.2019.04.012","journal-title":"Cancer Lett"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/1878-0261.12566","article-title":"TRPM4 is highly expressed in human colorectal tumor buds and contributes to proliferation, cell cycle, and invasion of colorectal cancer cells","volume":"13","author":"Kappel S","year":"2019","unstructured":"Kappel S, Stok\u0142osa P, Hauert B, et al.. TRPM4 is highly expressed in human colorectal tumor buds and contributes to proliferation, cell cycle, and invasion of colorectal cancer cells. Mol Oncol. 2019, 13:2393-405. 10.1002\/1878-0261.12566","journal-title":"Mol Oncol"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-020-00750-9","article-title":"Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure","volume":"13","author":"Zhou J","year":"2020","unstructured":"Zhou J, Zhang W, Wei C, et al.. Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure. BMC Med Genomics. 2020, 13:93. 10.1186\/s12920-020-00750-9","journal-title":"BMC Med Genomics"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000034166","article-title":"Identifying immune cell infiltration and diagnostic biomarkers in heart failure and osteoarthritis by bioinformatics analysis","volume":"102","author":"Wen B","year":"2023","unstructured":"Wen B, Liu M, Qin X, Mao Z, Chen X. Identifying immune cell infiltration and diagnostic biomarkers in heart failure and osteoarthritis by bioinformatics analysis. Medicine (Baltimore). 2023, 102:e34166. 10.1097\/MD.0000000000034166","journal-title":"Medicine (Baltimore)"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2012.1038","article-title":"Identification of MXRA5 as a novel biomarker in colorectal cancer","volume":"5","author":"Wang GH","year":"2013","unstructured":"Wang GH, Yao L, Xu HW, et al.. Identification of MXRA5 as a novel biomarker in colorectal cancer. Oncol Lett. 2013, 5:544-8. 10.3892\/ol.2012.1038","journal-title":"Oncol Lett"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2016.08.004","article-title":"Endoglin selectively modulates transient receptor potential channel expression in left and right heart failure","volume":"25","author":"Morine KJ","year":"2016","unstructured":"Morine KJ, Paruchuri V, Qiao X, et al.. Endoglin selectively modulates transient receptor potential channel expression in left and right heart failure. Cardiovasc Pathol. 2016, 25:478-82. 10.1016\/j.carpath.2016.08.004","journal-title":"Cardiovasc Pathol"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2009.12.055","article-title":"Transcriptomic analysis of patients with tetralogy of Fallot reveals the effect of chronic hypoxia on myocardial gene expression","volume":"140","author":"Ghorbel MT","year":"2010","unstructured":"Ghorbel MT, Cherif M, Jenkins E, Mokhtari A, Kenny D, Angelini GD, Caputo M. Transcriptomic analysis of patients with tetralogy of Fallot reveals the effect of chronic hypoxia on myocardial gene expression. J Thorac Cardiovasc Surg. 2010, 140:337-45.e26. 10.1016\/j.jtcvs.2009.12.055","journal-title":"J Thorac Cardiovasc Surg"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000133","article-title":"Weighted gene coexpression network analysis of human left atrial tissue identifies gene modules associated with atrial fibrillation","volume":"6","author":"Tan N","year":"2013","unstructured":"Tan N, Chung MK, Smith JD, et al.. Weighted gene coexpression network analysis of human left atrial tissue identifies gene modules associated with atrial fibrillation. Circ Cardiovasc Genet. 2013, 6:362-71. 10.1161\/CIRCGENETICS.113.000133","journal-title":"Circ Cardiovasc Genet"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11070956","article-title":"Transient receptor potential channel expression signatures in tumor-derived endothelial cells: functional roles in prostate cancer angiogenesis","volume":"11","author":"Bernardini M","year":"2019","unstructured":"Bernardini M, Brossa A, Chinigo G, et al.. Transient receptor potential channel expression signatures in tumor-derived endothelial cells: functional roles in prostate cancer angiogenesis. Cancers (Basel). 2019, 11:956. 10.3390\/cancers11070956","journal-title":"Cancers (Basel)"},{"key":"ref35","article-title":"Both genes and lncRNAs can be used as biomarkers of prostate cancer by using high throughput sequencing data","volume":"18","author":"Cheng WS","year":"2014","unstructured":"Cheng WS, Tao H, Hu EP, et al.. Both genes and lncRNAs can be used as biomarkers of prostate cancer by using high throughput sequencing data. Eur Rev Med Pharmacol Sci. 2014, 18:3504-10.","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.01436","article-title":"The giant protein titin\u2019s role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease","volume":"10","author":"Tharp CA","year":"2019","unstructured":"Tharp CA, Haywood ME, Sbaizero O, Taylor MR, Mestroni L. The giant protein titin\u2019s role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease. Front Physiol. 2019, 10:1436. 10.3389\/fphys.2019.01436","journal-title":"Front Physiol"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopha.2020.111169","article-title":"TTN-AS1 as a potential diagnostic and prognostic biomarker for multiple cancers","volume":"135","author":"Zheng QX","year":"2021","unstructured":"Zheng QX, Wang J, Gu XY, Huang CH, Chen C, Hong M, Chen Z. TTN-AS1 as a potential diagnostic and prognostic biomarker for multiple cancers. Biomed Pharmacother. 2021, 135:111169. 10.1016\/j.biopha.2020.111169","journal-title":"Biomed Pharmacother"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/409308-a-rare-case-of-profound-pulmonary-venous-malformation-in-an-elderly-individual-with-three-major-comorbidities-genetic-insights","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:54:44Z","timestamp":1760363684000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/409308-a-rare-case-of-profound-pulmonary-venous-malformation-in-an-elderly-individual-with-three-major-comorbidities-genetic-insights"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,13]]},"references-count":37,"URL":"https:\/\/doi.org\/10.7759\/cureus.94471","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10,13]]}}}