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    Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.
    Angiogenesis 2018 Feb 19. Epub 2018 Feb 19.
    Cell and Molecular Biology Department, Tulane University, New Orleans, LA, 70118, USA.
    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that leads to abnormal connections between arteries and veins termed arteriovenous malformations (AVM). Mutations in TGFβ pathway members ALK1, ENG and SMAD4 lead to HHT. However, a Smad4 mouse model of HHT does not currently exist. Read More

    Benign and malignant hepatocellular lesions in patients with vascular liver diseases.
    Abdom Radiol (NY) 2018 Feb 19. Epub 2018 Feb 19.
    Université Paris Diderot, Sorbonne Paris Cité, INSERM CRI, 75018, Paris, France.
    A variety of vascular liver disorders can induce hepatocellular tumors. They may be related to portal venous deprivation, venous outflow obstruction, or arterial diseases. Their common feature is an imbalance between hepatic arterial and portal venous blood flow leading to an increased hepatic arterial inflow. Read More

    Pazopanib effective for bevacizumab-unresponsive epistaxis in hereditary hemorrhagic telangiectasia.
    Laryngoscope 2018 Feb 16. Epub 2018 Feb 16.
    Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, U.S.A.
    Hereditary hemorrhagic telangiectasia (HHT) most commonly manifests with nasal mucosal telangiectasias, and vascular endothelial growth factor (VEGF) plays a significant role in this angiodysplasia. We describe a patient with HHT with epistaxis recalcitrant to several endonasal procedures and six cycles of intravenous bevacizumab, for which he was dependent on iron infusions and packed red blood cells transfusions. He then started pazopanib at 100 mg with dramatic improvements in epistaxis and normalization of hemoglobin and iron levels, without replenishment needs for 12 months. Read More

    ALK1 (Activin-Receptor Like Kinase 1) Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K (Phosphatidylinositol 3-Kinase) Activation.
    Arterioscler Thromb Vasc Biol 2018 Feb 15. Epub 2018 Feb 15.
    From the Program Against Cancer Therapeutic Resistance, Institut Català d'Oncologia, Hospital Duran i Reynals (E.A.-S., Y.G.-I., A.M.F., C.R.-D., A.F., O.C., M.A.P., M.G., F.V.) and Vascular Signaling Laboratory, Institut d'Investigació Biomèdica de Bellvitge (M.G.), L'Hospitalet de Llobregat, Barcelona, Spain; Institut d'Investigació Biomèdica de Bellvitge, Spain (E.A.-S., Y.G.-I., A.M.F., C.R.-D., A.F., X.M.-G., O.C., M.A.P., F.V.); Servei d'Anatomia Patològica (X.M.-G.) and HHT Unit, Internal Medicine Department (A.R.-M.), Institut d'Investigació Biomèdica de Bellvitge, Hospital Universitari de Bellvitge, Spain; Hospital Universitari Arnau de Vilanova, Lleida, Spain (X.M.-G.); Universitat de Lleida, Spain (X.M.-G.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid, Spain (L.M.B.); Departament de Ciències Clíniques, Universitat de Barcelona, Spain (A.R.-M.); CIBERONC (M.G.); and Departament de Ciències Fisiològiques, Campus de Bellvitge, L'Hospitalet de Llobregat, Universitat de Barcelona, Spain (F.V.).
    Objective: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia. Read More

    Endothelial cell biology of Endoglin in hereditary hemorrhagic telangiectasia.
    Curr Opin Hematol 2018 Feb 12. Epub 2018 Feb 12.
    Max Planck Institute for Molecular Biomedicine.
    Purpose Of Review: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFβ)-superfamily signaling pathway, are responsible for the human vascular disorder hereditary hemorrhagic telangiectasia (HHT) type 1, characterized in part by blood vessel enlargement. A growing body of work has uncovered an autonomous role for Eng in endothelial cells. We will highlight the influence of Eng on distinct cellular behaviors, such as migration and shape control, which are ultimately important for the assignment of proper blood vessel diameters. Read More

    Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations.
    J Clin Neurosci 2018 Feb 2. Epub 2018 Feb 2.
    Department of Neurosurgery, Clinical Neurosciences Center, University of Utah School of Medicine, Salt Lake City, UT, United States. Electronic address:
    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that causes angiodysplasia and results in mucocutaneous telangiectasias and arteriovenous malformations of organs. Although central nervous system vascular malformations can occur anywhere along the neuraxis, spinal vascular malformations are rare. We present our experience with the presentation and management of spinal vascular malformations in patients with HHT. Read More

    Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia-Related Epistaxis and Gastrointestinal Bleeding.
    Mayo Clin Proc 2018 Jan 9. Epub 2018 Jan 9.
    Division of Pulmonary Medicine, Mayo Clinic, Scottsdale, AZ.
    Objective: To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT).

    Patients And Methods: All patients treated with intravenous bevacizumab for severe hereditary hemorrhagic telangiectasia-related bleeding from June 1, 2013, through January 31, 2017, were included in this report. Severity of epistaxis (determined using the Epistaxis Severity Score questionnaire); hemoglobin, iron, and ferritin levels; and quality of life data were collected serially in all patients. Read More

    Medical treatment of epistaxis in hereditary hemorrhagic telangiectasia: an evidence-based review.
    Int Forum Allergy Rhinol 2018 Feb 2. Epub 2018 Feb 2.
    Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern, Dallas, TX.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder resulting in vascular dysplasia and formation of arteriovenous malformations. Recurrent epistaxis is a hallmark of the disease. An array of medical therapies are used in this patient population, but robust evidence-based recommendations regarding the medical treatment of epistaxis are lacking. Read More

    Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature.
    BMC Infect Dis 2018 02 1;18(1):65. Epub 2018 Feb 1.
    National Institute for Infectious Diseases "Lazzaro Spallanzani" IRCCS, Rome, Italy.
    Background: In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their potential pathogenic role in patients with particular predisposing factors. Patients with hereditary hemorrhagic telangiectasia (HHT) are exposed to infections because of telangiectasias and arteriovenous malformations (AVMs). Read More

    Human genetics and molecular mechanisms of vein of Galen malformation.
    J Neurosurg Pediatr 2018 Jan 19:1-8. Epub 2018 Jan 19.
    Department of Neurosurgery.
    Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics. A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Read More

    Emergency thoracic endovascular aortic repair with celiac artery coverage in hereditary hemorrhagic telangiectasia.
    J Vasc Surg Cases Innov Tech 2017 Jun 25;3(2):57-59. Epub 2017 Apr 25.
    Department of Cardiovascular Surgery, Tokyo Bay Urayasu Ichikawa Medical Center, Chiba, Japan.
    Celiac artery (CA) coverage during thoracic endovascular aortic repair has been demonstrated to be a feasible and effective strategy for selected cases. However, there is a potential risk of ischemic complications due to CA coverage in patients with certain types of hereditary hemorrhagic telangiectasia (HHT). Herein, we report a case of thoracoabdominal aortic rupture in a patient with HHT that was successfully treated with emergency thoracic endovascular aortic repair covering the CA preceded by hepatic artery bypass. Read More

    Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.
    Sci Signal 2018 Jan 16;11(513). Epub 2018 Jan 16.
    Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94143, USA.
    The transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including hereditary hemorrhagic telangiectasia (HHT). Drosha, a key enzyme for microRNA (miRNA) biogenesis, also regulates the TGF-β and BMP pathway through interaction with Smads and their joint control of gene expression through miRNAs. Read More

    Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
    Gene 2018 Mar 4;647:85-92. Epub 2018 Jan 4.
    Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:
    Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or ACVRL1, which code for ENDOGLIN and Activin A Receptor Type II-Like Kinase 1 (ALK1), belonging to the TGF-β/BMP signalling pathway. Typical HHT clinical features are mucocutaneous telangiectases, arteriovenous malformations, spontaneous and recurrent epistaxis, as well as gastrointestinal bleedings. Read More

    Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia.
    J Pediatr 2017 Dec 20. Epub 2017 Dec 20.
    University of Toronto, Toronto, Ontario, Canada; Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Translational Medicine, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:
    Transthoracic contrast echocardiography (TTCE) has high sensitivity but low specificity in screening for pulmonary arteriovenous malformations (pAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). Here we describe characteristics of TTCE that might be used to reduce the need for confirmatory computed tomography scans in children with HHT. Read More

    Inhibiting DPP4 in a mouse model of HHT1 results in a shift towards regenerative macrophages and reduces fibrosis after myocardial infarction.
    PLoS One 2017 18;12(12):e0189805. Epub 2017 Dec 18.
    Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, the Netherlands.
    Aims: Hereditary Hemorrhagic Telangiectasia type-1 (HHT1) is a genetic vascular disorder caused by haploinsufficiency of the TGFβ co-receptor endoglin. Dysfunctional homing of HHT1 mononuclear cells (MNCs) towards the infarcted myocardium hampers cardiac recovery. HHT1-MNCs have elevated expression of dipeptidyl peptidase-4 (DPP4/CD26), which inhibits recruitment of CXCR4-expressing MNCs by inactivation of stromal cell-derived factor 1 (SDF1). Read More

    ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
    Mol Genet Genomic Med 2018 Jan 14;6(1):121-125. Epub 2017 Dec 14.
    Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Read More

    Hereditary Hemorrhagic Telangiectasia.
    Otolaryngol Clin North Am 2018 Feb;51(1):237-254
    University of Regensburg, Franz-Josef-Strauss-Allee 11, D-93053 Regensburg, Germany.
    Hereditary hemorrhagic telangiectasia (HHT) describes the presenting manifestations of a disorder that is characterized by pathologic blood vessels. HHT is inherited as an autosomal dominant trait with variable penetrance. The abnormal vascular structures (dysplasias) can affect all the organs in the human body. Read More

    A novel association between high red blood cell alloimmunization rates and hereditary hemorrhagic telangiectasia.
    Transfusion 2017 Dec 6. Epub 2017 Dec 6.
    Department of Laboratory Medicine, Yale University School of Medicine, New Haven, Connecticut.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder associated with multiple arteriovenous malformations. HHT patients may require red blood cell (RBC) transfusion due to spontaneous hemorrhage or surgical bleeding. Because HHT-associated hemorrhage often occurs in submucosa we hypothesized that RBC alloimmunization rates in HHT patients may be higher than those observed in other transfused patients and investigated this in a retrospective study. Read More

    Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients.
    PLoS One 2017 30;12(11):e0188943. Epub 2017 Nov 30.
    Médecine Interne - Maladies Multi-Organiques, Hôpital Saint Eloi, Montpellier, France.
    Background: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France. Read More

    Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.
    Laryngoscope 2017 Nov 24. Epub 2017 Nov 24.
    Division of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, U.S.A.
    Objectives/hypothesis: Our objective was to describe epistaxis onset and severity in pediatric hereditary hemorrhagic telangiectasia (HHT) patients and study the cumulative incidence of epistaxis by age of onset within each genetic subtype.

    Study Design: Retrospective cohort chart review.

    Methods: Charts were reviewed of patients age 0 to 18 years with a clinical or genetic diagnosis of HHT who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016. Read More

    Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment.
    Case Rep Pulmonol 2017 12;2017:8274981. Epub 2017 Oct 12.
    Department of Pulmonary Medicine, South Miami Hospital, Baptist Health, South Miami, FL, USA.
    Hereditary hemorrhagic telangiectasia is a rare autosomal-dominant condition affecting visceral blood vessel development. Cerebral and most commonly pulmonary arteriovenous malformations are found in the majority of symptomatic patients. The most common complications include embolic strokes and cerebral abscesses, which have been attributed to abnormal vessel communications. Read More

    Executive summary of the 12th HHT international scientific conference.
    Angiogenesis 2018 Feb;21(1):169-181
    Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands.
    Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. Read More

    Contemporary Management of Pulmonary Arteriovenous Malformations.
    Int J Angiol 2017 Dec 18;26(4):205-211. Epub 2017 Sep 18.
    Division of Cardiothoracic Surgery, University of Kentucky College of Medicine, Lexington, Kentucky.
    Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Read More

    RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
    Pediatr Dermatol 2018 Jan 9;35(1):e9-e12. Epub 2017 Nov 9.
    Department of Dermatology, University of Virginia Health System, Charlottesville, VA, USA.
    We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis. Read More

    The roles of endoglin gene in cerebrovascular diseases.
    Neuroimmunol Neuroinflamm 2017 17;4:199-210. Epub 2017 Oct 17.
    Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, CA 94143, USA.
    Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis. Angiogenesis is important in the development of cerebral vasculature and in the pathogenesis of cerebral vascular diseases. ENG is an essential component of the endothelial nitric oxide synthase activation complex. Read More

    Human endoglin as a potential new partner involved in platelet-endothelium interactions.
    Cell Mol Life Sci 2017 Oct 28. Epub 2017 Oct 28.
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Científicas (CSIC), Ramiro de Maeztu, 9, 28040, Madrid, Spain.
    Complex interactions between platelets and activated endothelium occur during the thrombo-inflammatory reaction at sites of vascular injuries and during vascular hemostasis. The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1. This vascular disease is characterized by a bleeding tendency that is postulated to be a consequence of telangiectasia fragility rather than a platelet defect, since platelets display normal functions in vitro in this condition. Read More

    Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
    Genet Med 2017 Oct 19. Epub 2017 Oct 19.
    Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
    PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups. Read More

    Bevacizumab as a treatment for hereditary hemorrhagic telangiectasia in children: a case report.
    Colomb Med (Cali) 2017 Jun 30;48(2):88-93. Epub 2017 Jun 30.
    Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT) Departamento de Reumatologia, Fundación Valle del Lili, Cali, Colombia.
    Case Description: Five-year-old female patient with hereditary hemorrhagic telangiectasia.

    Clinical Findings: Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis.

    Treatment And Outcome: The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good clinical outcome. Read More

    [Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 2017 Sep;42(9):1017-1022
    Department of Medical Genetics, Second Xiangya Hospital, Central South University, Changsha 410011, China.
    Objective: To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family, and to explore the application of gene mutation testing in HHT diagnosis.
 Methods: Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria. Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology. Read More

    Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability.
    PLoS One 2017 5;12(10):e0184227. Epub 2017 Oct 5.
    Service de Médecine interne, CHRU de Lille, Université de Lille, Lille, France.
    Background: Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT).

    Methods And Results: We conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines. Read More

    Topical propranolol improves epistaxis in patients with hereditary hemorrhagic telangiectasia - a preliminary report.
    J Otolaryngol Head Neck Surg 2017 Oct 4;46(1):58. Epub 2017 Oct 4.
    Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Background: Severe epistaxis is often difficult to control in patients with hereditary hemorrhagic telangiectasia (HHT). Propranolol has been shown to have antiangiogenic properties in vitro and in vivo and is commonly used to treat hemangiomas. We present our experience with topical nasal propranolol for the treatment of moderate to severe epistaxis in patients with HHT. Read More

    Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.
    Hum Mol Genet 2017 Dec;26(24):4786-4798
    Litwin-Zucker Research Center for the Study of Alzheimer's Disease.
    Hereditary hemorrhagic telangiectasia (HHT) is a highly debilitating and life-threatening genetic vascular disorder arising from endothelial cell (EC) proliferation and hypervascularization, for which no cure exists. Because HHT is caused by loss-of-function mutations in bone morphogenetic protein 9 (BMP9)-ALK1-Smad1/5/8 signaling, interventions aimed at activating this pathway are of therapeutic value. We interrogated the whole-transcriptome in human umbilical vein ECs (HUVECs) and found that ALK1 signaling inhibition was associated with a specific pro-angiogenic gene expression signature, which included a significant elevation of DLL4 expression. Read More

    Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study.
    Neurosurgery 2018 Jan;82(1):35-47
    Department of Neurological Surgery, University of California, San Francisco, San Francisco, California.
    Background: Cerebral arteriovenous malformations (AVMs) are common in patients with hereditary hemorrhagic telangiectasia (HHT). However, due to the rarity of HHT and little published evidence of outcomes from management of brain AVMs in this disease, current international HHT guidelines recommend an individualized approach. Specifically, the outcomes for surgical vs nonsurgical management of these lesions have not been reported to date. Read More

    Pulmonary artery hypertension in childhood: The transforming growth factor-β superfamily-related genes.
    Pediatr Neonatol 2017 Aug 12. Epub 2017 Aug 12.
    Department of Cardiothoracic Surgery, The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian, Fujian Province, People's Republic of China. Electronic address:
    Pulmonary artery hypertension (PAH) is very rare in childhood, and it can be divided into heritable, idiopathic drug- and toxin-induced and other disease (connective tissue disease, human immunodeficiency virus infection, portal hypertension, congenital heart disease, or schistosomiasis)-associated types. PAH could not be interpreted solely by pathophysiological theories. The impact of the transforming growth factor-β superfamily-related genes on the development of PAH in children remains to be clarified. Read More

    Deregulated TGF-β/BMP Signaling in Vascular Malformations.
    Circ Res 2017 Sep;121(8):981-999
    From the Department of Immunology, Genetics, and Pathology, Uppsala University, Sweden (S.I.C., P.U.M., E.D.); FIRC Institute of Molecular Oncology, Milan, Italy (E.D., M.G.L.); and Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy (M.G.L.).
    Correct organization of the vascular tree requires the balanced activities of several signaling pathways that regulate tubulogenesis and vascular branching, elongation, and pruning. When this balance is lost, the vessels can be malformed and fragile, and they can lose arteriovenous differentiation. In this review, we concentrate on the transforming growth factor (TGF)-β/bone morphogenetic protein (BMP) pathway, which is one of the most important and complex signaling systems in vascular development. Read More

    Angioarchitecture of Hereditary Arteriovenous Malformations.
    Semin Intervent Radiol 2017 Sep 11;34(3):250-257. Epub 2017 Sep 11.
    Department of Radiology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
    This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment. Read More

    A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment.
    Ann Transl Med 2017 Sep;5(17):345
    Department of Radiology, Yale New Haven Heath at Bridgeport Hospital, Bridgeport, CT, USA.
    Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth. Read More

    Hereditary hemorrhagic telangiectasia-laser treatment of epistaxis.
    Ear Nose Throat J 2017 Sep;96(9):E10-E14
    Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Centre Zagreb, Zagreb, Croatia.
    Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disorder characterized by recurrent epistaxis, telangiectasias, and multiorgan vascular dysplasia. Various modalities exist for the treatment of HHT-related chronic epistaxis, although no method is preferred over another. The aim of this study was to review the effectiveness of diode laser photocoagulation in the treatment of epistaxis in patients with HHT. Read More

    Antithrombotic Use Predicts Recanalization of Embolized Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.
    Can Assoc Radiol J 2017 11 15;68(4):463-467. Epub 2017 Sep 15.
    Department of Radiology, St Michael's Hospital, Toronto, Ontario, Canada; Keenan Research Centre of the Li Ka Shing Knowledge Institute and St Michaels Hospital, Toronto, Ontario, Canada; Department of Medical Imaging, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

    [A rare cause of cyanosis in childhood: Pulmonary arteriovenous malformation].
    Turk Kardiyol Dern Ars 2017 Sep;45(6):538-540
    Department of Pediatric Cardiology, Gynecologic and Pediatric Hospital, Batman, Turkey.
    Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Read More

    ALK1 signaling in development and disease: new paradigms.
    Cell Mol Life Sci 2017 12 4;74(24):4539-4560. Epub 2017 Sep 4.
    Department of Structural Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
    Activin A receptor like type 1 (ALK1) is a transmembrane serine/threonine receptor kinase in the transforming growth factor-beta receptor family that is expressed on endothelial cells. Defects in ALK1 signaling cause the autosomal dominant vascular disorder, hereditary hemorrhagic telangiectasia (HHT), which is characterized by development of direct connections between arteries and veins, or arteriovenous malformations (AVMs). Although previous studies have implicated ALK1 in various aspects of sprouting angiogenesis, including tip/stalk cell selection, migration, and proliferation, recent work suggests an intriguing role for ALK1 in transducing a flow-based signal that governs directed endothelial cell migration within patent, perfused vessels. Read More

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