Angiogenesis最新文献

{"title":"Mechanistic insights into endometriosis: roles of Streptococcus agalactiae and L-carnitine in lesion development and angiogenesis.","authors":"Yuan Zhuang, Ting Lyu, Yang Chen, Wei Li, Lei Tang, Shi-Ping Xian, Peng-Fei Yang, Lijie Wang, Qian-Qian Zhang, Chaoming Mei, Yu-Jing Lin, Zhixiang Yan, Zhanyu Li, Jian-Zhong He, Fa-Min Zeng","doi":"10.1007/s10456-025-09991-7","DOIUrl":"10.1007/s10456-025-09991-7","url":null,"abstract":"<p><p>Retrograde menstruation is a widely recognized etiological factor for endometriosis (EMs); however, it is not the sole cause, as not all affected women develop EMs. Emerging evidence suggests a significant association between the vaginal microbiota and EMs. Nonetheless, the precise mechanisms by which microbial communities influence the pathophysiology and progression of EMs remain unclear. In this study, the cervical mucus from patients with EMs showed significantly greater microbial abundance compared with that of controls, with Streptococcus agalactiae (S. agalactiae) exhibiting the most substantial increase as determined by 16S rRNA gene sequencing. In a murine model, elevated S. agalactiae levels significantly increased the lesion number and colonization, whereas antibiotic treatment reduced lesion formation. Metabolomic analyses showed elevated L-carnitine levels in the cervical secretions and serum of patients with EMs, a finding corroborated in murine tissues. Exogenous L-carnitine administration similarly increased the number and weight of endometriotic lesions. Meanwhile, the inhibition of L-carnitine synthesis suppressed lesion formation induced by S. agalactiae. In vitro, both S. agalactiae and L-carnitine promoted EMs cell proliferation, migration, and invasion. L-carnitine synthesis inhibition attenuated cell motility stimulated by S. agalactiae. Mechanistically, S. agalactiae enhanced angiogenesis through L-carnitine by upregulating vascular endothelial growth factor expression and increasing human umbilical vein endothelial cell motility. These findings identify S. agalactiae as a key cervical microbiome component in EMs development and reveal a microbiota-metabolite-angiogenesis axis that may offer novel therapeutic targets.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"38"},"PeriodicalIF":9.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12198069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144482906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proteoglycans and glycosaminoglycans: critical regulators in angiogenesis, vasculogenesis, and vascularized tissue engineering.","authors":"Binbin Lin, Tianyu Sun, Yiqi Feng, Hongyu Liu, Lingling Zhang, Buling Wu, Jingyi Wu","doi":"10.1007/s10456-025-09995-3","DOIUrl":"https://doi.org/10.1007/s10456-025-09995-3","url":null,"abstract":"<p><p>Reconstruction of the microvascular network is essential for tissue regeneration and functional repair. However, inadequate vascularization remains an arduous challenge, hindering graft survival in wound healing and regenerative medicine. Although neovascularization and vascularized tissue engineering have received considerable attention, current investigations into the regulatory mechanisms of microvascular regeneration have primarily focused on intracellular signaling entities, leaving the extracellular molecular-level regulatory mechanisms unclear. Proteoglycans (PGs), ubiquitously distributed in the extracellular matrix and on cell membranes, consist of glycosaminoglycan (GAG) chains covalently linked to core proteins. Their spatiotemporal heterogeneity enables precise modulation of neovascularization; however, the structural complexity of PGs/GAGs obscures their mechanistic roles in vascular remodeling. This review systematically analyzes the regulatory roles of PGs/GAGs in the distinct phases of angiogenesis and vasculogenesis, which are two fundamental neovascularization processes. Additionally, we explored the emerging applications of PGs/GAGs in vascularized tissue engineering and regenerative medicine (VTERM), focusing on PG/GAG-functionalized biomaterials designed to mimic the native extracellular microenvironment and enhance specific signaling. This article critically evaluates the latest advances in optimizing these composite materials, and highlights the challenges associated with achieving spatiotemporal control over vascularization. By integrating profound molecular insights into innovative translational practices, this study establishes a theoretical framework for leveraging PGs/GAGs as multifunctional regulators in next-generation VTERM strategies.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"37"},"PeriodicalIF":9.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144482907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endothelial GTPBP3 directs developmental angiogenesis and neovascularization after limb ischemia via the mtROS/HRl/ATF4/mTORC1 axis.","authors":"Donglu Qin, Jiarui Hu, Yang Yang, Xin Li, Jia He, Jin Chen, Xin Guo, Cheng Wei, Fengjiao Wang, Ting Yi, Chenyu Li, Bilian Yu","doi":"10.1007/s10456-025-09994-4","DOIUrl":"https://doi.org/10.1007/s10456-025-09994-4","url":null,"abstract":"<p><p>GTP binding protein 3 (GTPBP3) is a highly conserved enzyme involved in tRNA modification, is essential for 5-taurinomethyluridine (τm⁵U) biosynthesis, and is linked to mitochondrial dysfunction within cells. However, the specific roles of GTPBP3 in different cell types during vascular development and angiogenesis are not well understood. In this study, we assess the physiological functions of GTPBP3 in endothelial cells (ECs) using two conditional knockout mouse models. GTPBP3 deletion, specifically in ECs, resulted in embryonic lethality owing to irregularities in angiogenesis and vascular formation. Tamoxifen-inducible EC-specific GTPBP3 knockout (Gtpbp3^iΔEC) mice show reduced retinal sprouting angiogenesis and impaired neovascularization after limb ischemia. Mechanistically, GTPBP3 absence in ECs leads to mitochondrial dysfunction and an increase in mitochondrial reactive oxygen species (mtROS), which alters Heme-regulated eIF2α kinase (HRI)-activating transcription factor 4 (ATF4)-Sestrin2 pathway expression, inhibiting activation of the mTORC1 pathway and angiogenesis. However, treatment with MitoQ-an mtROS scavenger-improves angiogenic dysfunction. These results highlight GTPBP3 as a vital element for developmental angiogenesis and neovascularization after limb ischemia.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"36"},"PeriodicalIF":9.2,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic deletion of microRNA-15a/16-1 in pericytes stimulates cerebral angiogenesis and promotes functional recovery after ischemic stroke.","authors":"Ping Sun, Yang Xu, Tianqing Xiong, Shun Li, Na Qiu, Chao Zhou, Jiefei Wang, Alexander Chang, Uma R Chandran, Ke-Jie Yin","doi":"10.1007/s10456-025-09987-3","DOIUrl":"https://doi.org/10.1007/s10456-025-09987-3","url":null,"abstract":"<p><p>Stroke is a leading cause of mortality and disability globally. Despite advancements in acute stroke therapies, patient outcomes with ischemic stroke remain suboptimal. Understanding its molecular mechanisms is crucial for developing effective treatments. Angiogenesis actively contributes to post-stroke functional recovery and improves long-term survival in stroke patients. Pericytes are essential for maintaining vascular stability and promoting angiogenesis. We hypothesized that microRNA-15a/16-1 in pericytes significantly modulates post-stroke angiogenesis and neurological recovery. Using a pericyte-specific miR-15a/16-1 conditional knockout (cKO) mouse model, we found that genetic deletion of miR-15a/16-1 in pericytes enhances angiogenesis, promotes cerebral blood flow recovery, and improves sensorimotor and cognitive outcomes following ischemic stroke. Mechanistically, RNA sequencing identified several novel targets of miR-15a/16-1, including Pappa2, Fgf9, Islr, and Ccr2. Interestingly, Pappa2, Fgf9, and Islr function as secreted proteins. Luciferase reporter assays demonstrated that miR-15a/16-1 directly binds and suppresses Pappa2, Fgf9, Islr, and Ccr2 activity in cultured pericytes. In vivo and in vitro assays further confirmed that miR-15a/16-1 silencing in pericytes significantly elevates the protein levels of Pappa2, Fgf9, Islr, and Ccr2 and enhances endothelial cell proliferation, migration, and tube formation under ischemic conditions. These findings suggest that targeting miR-15a/16-1 in pericytes offers a promising therapeutic strategy for enhancing stroke recovery by promoting neurovascular repair and reducing brain damage.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"35"},"PeriodicalIF":9.2,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diversity of extracellular vesicle sources in atherosclerosis: role and therapeutic application.","authors":"Yuan Zhang, Wendiao Zhang, Zhiwen Wu, Yong Chen","doi":"10.1007/s10456-025-09983-7","DOIUrl":"https://doi.org/10.1007/s10456-025-09983-7","url":null,"abstract":"<p><p>Extracellular vesicles (EVs) are phospholipid bilayer membrane structures secreted by cells and widely present in blood or body fluids, playing critical roles in cell communication and homeostasis. Increasing evidence has implicated EVs dysfunction in the pathogenesis of various cardiovascular diseases (CVD), including atherosclerosis (AS), ischemic heart disease, heart failure, aortic lesions, and valvular lesions. Using EVs derived from diseases or multiple tissue types to illuminate the functional mechanisms of EVs will promote pathological studies and drug development. EVs including exosomes, microvesicles, and apoptotic bodies, play key roles in the cellular physiological processes linked to AS, notably the recently developed engineering strategies applied to EVs have provided a new avenue for elucidating the mechanisms underlying the development and pathology of AS. To help researchers develop robust and reproducible methods that recapitulate in-vivo signatures of EVs to study AS development and pathology, this review summarized the current methods used to isolate or generate EVs and provided opinions on the use of EVs for disease and functional studies through collecting EVs derived from different kinds of cells or diseases in AS, which are the aspects that have not been generalized in previous reviews. In essence, EVs and their derivatives offer a novel approach to understanding the complex etiology of AS, and serve as a substantial basis for the discovery of potential diagnostic biomarkers and therapeutic targets.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"34"},"PeriodicalIF":9.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.","authors":"Patrick Smits, Leanna Marrs, Yu Sheng Cheng, Michal Ad, Sana Nasim, David Zurakowski, Joyce Bischoff, Arin K Greene","doi":"10.1007/s10456-025-09986-4","DOIUrl":"10.1007/s10456-025-09986-4","url":null,"abstract":"<p><p>Capillary malformation (CM) is a congenital, non-hereditary lesion composed of enlarged and tortuous blood vessels. CM is associated with a somatic p.R183Q activating mutation in the Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene in endothelial cells (EC). Cutaneous CMs are present in 1/300 infants and in 55-70% of CM cases soft tissue overgrowth is observed. Pharmacotherapy for CM does not exist. Here we report a conditional mouse model allowing the simultaneous tissue specific expression of GNAQ p.R183Q and Green Fluorescent Protein (GFP) from the Rosa26 (R26) locus (R26^{GT - Gnaq-GFP}). We show that expression of GNAQ p.R183Q in ECs results in vascular malformations with features similar to human CM lesions. GNAQ p.R183Q expression during embryonic development (Tg-Cadherin5Cre (Tg-Cdh5Cre)) resulted in a severe vascular phenotype, lethal by embryonic (E) 16.5. Sporadic induction of mutant GNAQ expression in ECs at postnatal (P) day 1 (Tg-Cdh5CreER) led to tortuous and enlarged blood vessels, most noticeable in the intestines. GNAQ p.R183Q/GFP expressing ECs co-localized with lesions and displayed increased proliferation. Mutant ECs had abnormal mural cell coverage and abnormal pericellular extracellular matrix deposition, which was confirmed in human CM samples. Similar to human CM they displayed strong expression of the tip cell marker Endothelial cell-specific molecule 1 (ESM1) and increased Angiopoietin 2 (ANGPT2) expression. In conclusion, GNAQ p.R183Q expression in mouse ECs causes vascular malformations supporting the mutation's causality for CM. The lesions recapitulate multiple features of human CM, making the mouse model suitable for the preclinical testing of future CM pharmacotherapy.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"33"},"PeriodicalIF":9.2,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.","authors":"Dariush Skowronek, Robin A Pilz, Valeriia V Saenko, Lara Mellinger, Debora Singer, Silvia Ribback, Anja Weise, Kevin Claaßen, Christian Büttner, Emily M Brockmann, Christian A Hübner, Thiha Aung, Silke Haerteis, Sander Bekeschus, Arif B Ekici, Ute Felbor, Matthias Rath","doi":"10.1007/s10456-025-09985-5","DOIUrl":"10.1007/s10456-025-09985-5","url":null,"abstract":"<p><p>Cerebral cavernous malformations (CCMs) are clusters of thin-walled enlarged blood vessels in the central nervous system that are prone to recurrent hemorrhage and can occur in both sporadic and familial forms. The familial form results from loss-of-function variants in the CCM1, CCM2, or CCM3 gene. Despite a better understanding of CCM pathogenesis in recent years, it is still unclear why CCM3 mutations often lead to a more aggressive phenotype than CCM1 or CCM2 variants. By combining high-throughput differentiation of blood vessel organoids from human induced pluripotent stem cells (hiPSCs) with a CCM1, CCM2, or CCM3 knockout, single-cell RNA sequencing, and high-content imaging, we uncovered both shared and distinct functions of the CCM proteins. While there was a significant overlap of differentially expressed genes in fibroblasts across all three knockout conditions, inactivation of CCM1, CCM2, or CCM3 also led to specific gene expression patterns in neuronal, mesenchymal, and endothelial cell populations, respectively. Taking advantage of the different fluorescent labels of the hiPSCs, we could also visualize the abnormal expansion of CCM1 and CCM3 knockout cells when differentiated together with wild-type cells into mosaic blood vessel organoids. In contrast, CCM2 knockout cells showed even reduced proliferation. These observations may help to explain the less severe clinical course in individuals with a pathogenic variant in CCM2 and to decode the molecular and cellular heterogeneity in CCM disease. Finally, the excellent scalability of blood vessel organoid differentiation in a 96-well format further supports their use in high-throughput drug discovery and other biomedical research studies.</p>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":"32"},"PeriodicalIF":9.2,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polysialic acid regulates glomerular microvasculature formation by interaction with VEGF-A188 in mice","authors":"Kristina M. Niculovic,&nbsp;Manuel M. Vicente,&nbsp;Vanessa Wittek,&nbsp;Elina Kats,&nbsp;Iris Albers,&nbsp;Kerstin Flächsig-Schulz,&nbsp;Ulrike Peters-Bernard,&nbsp;Anna-Carina Weiss,&nbsp;Hauke Thiesler,&nbsp;Laura S. Dräger,&nbsp;Manuel H. Taft,&nbsp;Anne Jörns,&nbsp;Hans Bakker,&nbsp;Herbert Hildebrandt,&nbsp;Martina Mühlenhoff,&nbsp;Birgit Weinhold,&nbsp;Markus Abeln,&nbsp;Anja K. Münster-Kühnel","doi":"10.1007/s10456-025-09984-6","DOIUrl":"10.1007/s10456-025-09984-6","url":null,"abstract":"<div><p>Vascular endothelial growth factor A (VEGF-A) is a key signalling protein that stimulates blood vessel development and repair. Its tight control is essential for organ development and tissue homeostasis. However, the complex regulatory network for balanced bioavailability of VEGF-A is not fully understood. Here, we assessed the role of the glycocalyx component polysialic acid (polySia) for kidney development and its potential interactions with VEGF-A isoforms, in vitro and in vivo, using mouse models of polySia deficiency. PolySia acts as negative regulator of cell adhesion, but also may interact with extracellular components. In murine kidney, polySia was identified on nephron progenitor and endothelial cell subsets in developing nephrons with declining expression during maturation. Loss of polySia in <i>Ncam</i>^{<i>−/−</i>} mice revealed the neural cell adhesion molecule NCAM as major protein carrier. Both polysialyltransferase-negative and <i>Ncam</i>^{<i>−/−</i>} mice displayed impaired glomerular microvasculature development with reduced endothelial cell numbers, reminiscent to the phenotype of mice with impaired VEGF-A signalling. In vitro, immobilized polySia specifically interacted with the VEGF-A188 isoform demonstrating an isoform-specific direct interaction. Single cell RNA sequencing data analysis of newborn mouse kidneys implicated activation of VEGF-A-signalling in polysialyltransferase-positive endothelial cells. Consistently, loss of polySia resulted in diminished VEGFR2 activation in perinatal kidney and human endothelial cells. At transcriptional level, the expression of polysialyltransferases and known polySia carrier proteins is conserved in human developing kidney. Together, these data demonstrate a direct impact of polySia on VEGF-A signalling with the perspective that polysialylation could be a therapeutic target to ameliorate microvasculature repair after renal injury.</p><h3>Graphical abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":""},"PeriodicalIF":9.2,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s10456-025-09984-6.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144125699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human endothelial colony forming cells (ECFCs) require endothelial protein C receptor (EPCR) for cell cycle progression and angiogenic activity","authors":"Sarah E. J. Chambers,&nbsp;Jasenka Guduric-Fuchs,&nbsp;Edoardo Pedrini,&nbsp;Pietro M. Bertelli,&nbsp;Chutima Charoensuk,&nbsp;Elisa Peixoto,&nbsp;Varun Pathak,&nbsp;Hamza I. Alhamdan,&nbsp;Ruoxiao Xie,&nbsp;Anna Krasnodembskaya,&nbsp;Judith Lechner,&nbsp;Alan W. Stitt,&nbsp;Reinhold J. Medina","doi":"10.1007/s10456-025-09982-8","DOIUrl":"10.1007/s10456-025-09982-8","url":null,"abstract":"<div><p>Vascular repair and regeneration are critical for tissue homeostasis. Endothelial colony forming cells (ECFCs) are vessel-resident progenitors with vasoreparative capacity and they offer an important avenue for allogeneic cytotherapy to achieve perfusion of ischemic tissues. Endothelial Protein C Receptor (EPCR) has been proposed as a marker for vascular endothelial stem cells, but its precise role in ECFC biology remains unknown. The current study has investigated the biological relevance of EPCR in ECFC function. Our data show that over 95% of ECFCs exhibit high EPCR expression. These levels surpassing CD34 and CD157, positions EPCR as a new robust ECFC immunophenotypic marker, alongside established markers CD31 and CD105. Functionally, depleting EPCR expression in ECFCs significantly diminished angiogenic activity, including proliferation, migration and tube formation. This knockdown also altered normal ECFC barrier function. Transcriptomic analysis indicated that knockdown of EPCR led to enrichment of gene signatures for cell cycle, TGF beta, and focal adhesion kinases. G1 cell cycle arrest was confirmed in ECFCs with depleted EPCR. Mechanistically, EPCR knockdown led to increased release of TGFβ2 and SMAD2/3 activation, coupled with increased p21, decreased pFAK, and increased transgelin. Additionally, we showed that quiescent ECFCs showed significantly lower EPCR expression when compared to proliferating ECFCs. In agreement with this, cell sorting experiments demonstrated that ECFCs with the highest EPCR expression exhibited the highest clonogenic capacity. In summary, our findings highlight that EPCR expression in ECFCs is critical for their angiogenic activity, by modulating cell cycle progression.</p><h3>Graphical abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":""},"PeriodicalIF":9.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s10456-025-09982-8.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144117670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute aortic dissection in a patient with Hereditary Hemorrhagic Telangiectasia associated with Juvenile Polyposis due to SMAD4 mutation: case report and literature review","authors":"Catalina Pezzoto,&nbsp;Ana Braslavsky,&nbsp;Carolina Vázquez,&nbsp;Candelaria Serrano,&nbsp;Marcelo Serra","doi":"10.1007/s10456-025-09981-9","DOIUrl":"10.1007/s10456-025-09981-9","url":null,"abstract":"<div><h3>Objective</h3><p>We present a novel case of concurrent Hereditary Hemorrhagic Telangiectasia-Juvenile Polyposis Syndrome (HHT-JP), resulting in a fatal aortic dissection. Given rarity of the case, we aimed to perform a comprehensive review of the existing literature to better characterize this clinical complication in this population.</p><h3>Methods</h3><p>We conducted a literature review on HHT-JP syndrome using PubMed, focusing on English-language articles published between 2010 and 2024, specifically case reports and small series. Search terms \"Hereditary Hemorrhagic Telangiectasia\", “Osler-Weber-Rendu syndrome” and \"Juvenile Polyposis\" were used. Exclusion criteria included population studies lacking detailed individual characteristics related to Hereditary Hemorrhagic Telangiectasia (HHT) or Juvenile Polyposis (JP). Duplicate articles were removed, and data were extracted on patient demographics, clinical presentations, diagnostic criteria (Curaçao criteria for HHT, Jass criteria for JP), treatments, and outcomes.</p><h3>Results</h3><p>Fifty-six individuals with the MADH4 mutation met the inclusion criteria and were compared to our patient. The age range of the total cohort of fifty-six participants spanned from 6 to 66 years, with a distribution between men and women. The typical clinical presentation of HHT-JP was observed in most cases. Notably, only one patient from previous literature exhibited aortic dissection, aligning with our patient's presentation. Additionally, three other patients had aortic aneurysms. Musculoskeletal and other cardiovascular anomalies were also identified and described.</p><h3>Discussion</h3><p>While aortic aneurysms prevail in HHT-JP syndrome, aortic dissection cases are extremely rare. This case highlights the need for vigilant screening to identify aortic anomalies in this specific patient subset, emphasizing the severe complications associated with this syndrome combination.</p></div>","PeriodicalId":7886,"journal":{"name":"Angiogenesis","volume":"28 3","pages":""},"PeriodicalIF":9.2,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}