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    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 2017 Nov 16. Epub 2017 Nov 16.
    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 2017 Nov 9. 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 2017 07 4. Epub 2017 Jul 4.
    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 Nov 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 Dec 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

    Emergency consultation for epistaxis: A bad predictor for overall health?
    Auris Nasus Larynx 2017 Aug 28. Epub 2017 Aug 28.
    Department of Otorhinolaryngology, University Hospital Zurich USZ, University of Zurich UZH, Switzerland. Electronic address:
    Objective: To compare the mortality rate of a large epistaxis cohort with the fatalities of the general Swiss population and to evaluate significant risk factors for impending early death.

    Methods: 568 patients out of an epistaxis cohort from a former study were contacted by mail to answer a questionnaire. Deceased patients were identified from March, 2007 through April, 2014. Read More

    The Lung in Hereditary Hemorrhagic Telangiectasia.
    Respiration 2017 30;94(4):315-330. Epub 2017 Aug 30.
    Service de génétique - centre de référence national pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.
    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung. Read More

    Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.
    Dig Dis Sci 2017 Oct 23;62(10):2623-2630. Epub 2017 Aug 23.
    Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. Read More

    [Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide].
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 2017 Aug;25(4):1136-1141
    Department of Hematology, The Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China. E-mail:
    Objective: To analyze a hereditary hemorrhagic telangiectasia(HHT) family Activin receptor-like kinase 1(ACVRL1), Endoglin (ENG) and Mothers against decapentaplegic homolog 4 (MADH4, SMAD4) gene mutation, meanwhile, to observe the curative effect of thalidomide in treatment of HHT patients.

    Methods: The clinical feature of the HHT family was analyzed, the polymerase chain reaction (PCR) combined with Sanger sequencing of ACVRL1, ENG and SMAD4 were used to investigate the proband. The suspicious mutations were further detected in the other 7 family members. Read More

    Multiple Pulmonary Arteriovenous Malformations: An Unusual Cause of Shortness of Breath and Recurrent Strokes.
    S D Med 2017 Feb;70(2):57-59
    Department of Cardiology, University of South Dakota Sanford School of Medicine.
    Objective: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes.

    Background: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. Read More

    Study and therapeutic progress on spinal cord perimedullary arteriovenous fistulas.
    Biomed Rep 2017 Sep 25;7(3):214-220. Epub 2017 Jul 25.
    Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
    Spinal cord perimedullary arteriovenous fistulas (PMAVFs) are rare and belong to type IV spinal cord arteriovenous malformations (AVMs). Little is known regarding the treatment and prognosis of spinal cord PMAVFs. In the present study the relevant literature from PubMed was reviewed, and it was found that these fistulas can occur at all ages but are more common in children. Read More

    Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
    Expert Opin Ther Targets 2017 Oct 20;21(10):933-947. Epub 2017 Aug 20.
    a Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Madrid , Spain.
    Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level. Read More

    Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia.
    AJNR Am J Neuroradiol 2017 Oct 3;38(10):1929-1933. Epub 2017 Aug 3.
    From the Departments of Radiology (A.P., B.S.P., D.R.A., C.P.W., W.B.).
    Background And Purpose: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations.

    Materials And Methods: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017. Read More

    Pulmonary Hypertension in a Patient with Hereditary Hemorrhagic Telangiectasia.
    R I Med J (2013) 2017 Aug 1;100(8):29-31. Epub 2017 Aug 1.
    Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114.
    t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH. Read More

    Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT).
    Bosn J Basic Med Sci 2017 Nov 20;17(4):276-285. Epub 2017 Nov 20.
    Functional and Laboratory Diagnostics Department, I. Horbachevsky Ternopil State Medical University, Ternopil, Ukraine.
    Hepatopulmonary syndrome (HPS) is a severe complication of advanced liver disease associated with an extremely poor prognosis. HPS is diagnosed in 4-47% of patients with cirrhosis and in 15-20% of candidates for liver transplantation. In addition, severe hypoxia is associated with a high risk of complications of liver transplantation (a 30% chance during the first 90 days) and increases the gap between transplantation and improving arterial oxygenation. Read More

    Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients.
    Cerebrovasc Dis 2017 27;44(3-4):179-185. Epub 2017 Jul 27.
    Department of Radiology, Mayo Clinic, Rochester, MN, USA.
    Background And Purpose: There is a high prevalence of right-to-left shunting pulmonary arteriovenous malformations (PAVMs), which are stroke risk factors, in hereditary hemorrhagic telangiectasia (HHT) patients. While the prevalence of ischemic complications in HHT patients is known, the prevalence of silent brain infarcts (SBI) remains unknown. The purpose of this study was to determine the prevalence and risk factors for SBI in HHT patients. Read More

    Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia.
    Respiration 2017 26;94(3):242-250. Epub 2017 Jul 26.
    Department of Cardiology, St. Antonius Hospital Nieuwegein, Nieuwegein, The Netherlands.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. Read More

    Pulmonary Infarction: In the Beginning: The Natural History of Pulmonary Infarction.
    Chest 2017 Dec 14;152(6):1135-1139. Epub 2017 Jul 14.
    Division of Pulmonary, Critical Care, and Sleep Medicine, The Johns Hopkins Hospital, Baltimore, MD; MedStar Health, Baltimore, MD.
    Background: Massive pulmonary emboli can cause an abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast, the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of symptoms of pulmonary infarction is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. Read More

    Imaging of Pregnancy-related Vascular Complications.
    Radiographics 2017 Jul-Aug;37(4):1270-1289
    From the Department of Radiology, Mayo Clinic Arizona, Phoenix, Ariz (R.S.P., C.O.M.); Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (C.J.N., C.A.R., V.M.M., S.B.); Department of Radiology, NYU Winthrop Hospital, Mineola, NY (D.S.K.); Stony Brook University School of Medicine, Stony Brook, NY (D.S.K.); and Neuroradiology Section, Department of Radiology, Phoenix Children's Hospital, Phoenix, Ariz (P.C.).
    Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications. Because radiologists often play an important role in evaluation of the pregnant patient, understanding the pathophysiology of vascular-related complications in pregnancy and their imaging appearances is essential for diagnostic accuracy. Read More

    Linking Brain Arteriovenous Malformations With Anorectal Hemorrhoids: A Clinical and Anatomical Review.
    Anat Rec (Hoboken) 2017 Nov 21;300(11):1973-1980. Epub 2017 Jul 21.
    Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York.
    Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Read More

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