2020
Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations
Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia‐Tsao G, Sugeng L, Young LH. Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations. Journal Of The American Heart Association 2020, 9: e016197. PMID: 33054561, PMCID: PMC7763373, DOI: 10.1161/jaha.120.016197.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IICardiac Output, HighDiscrete Subaortic StenosisEchocardiographyFemaleHeart Defects, CongenitalHeart FailureHumansLiverMaleMiddle AgedMutationPrognosisRetrospective StudiesSurvival AnalysisTelangiectasia, Hereditary HemorrhagicUnited StatesVascular MalformationsConceptsHigh-output cardiac failureHereditary hemorrhagic telangiectasiaLeft ventricular outflow tractVentricular outflow tractHemorrhagic telangiectasiaMild obstructionSubaortic membraneVascular malformationsOutflow tractActivin receptor-like kinase 1 mutationsHereditary hemorrhagic telangiectasia patientsLiver vascular malformationsMild aortic insufficiencyPulmonary artery pressureRight heart catheterizationCohort of patientsRetrospective observational analysisHigh cardiac outputKinase 1 mutationsArtery pressureHeart catheterizationPulmonary hypertensionAortic insufficiencyBackground PatientsTricuspid regurgitation
2018
Evolution of Intrahepatic Shunts in a Patient With Hereditary Hemorrhagic Telangiectasia.
Haghighat L, Brandt EJ, Proctor DD, Garcia-Tsao G, Pollak J, Young L. Evolution of Intrahepatic Shunts in a Patient With Hereditary Hemorrhagic Telangiectasia. Annals Of Internal Medicine 2018, 169: 508-509. PMID: 29868721, DOI: 10.7326/l18-0036.Peer-Reviewed Case Reports and Technical NotesAgedFemaleHepatic ArteryHepatic VeinsHumansLiver CirculationPortal VeinTelangiectasia, Hereditary HemorrhagicVascular Malformations
2017
Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of Pulmonary Arteriovenous Malformations
Chizinga M, Rudkovskaia AA, Henderson K, Pollak J, Garcia-Tsao G, Young LH, Fares WH. Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of Pulmonary Arteriovenous Malformations. American Journal Of Respiratory And Critical Care Medicine 2017, 196: 1353-1356. PMID: 28375020, DOI: 10.1164/rccm.201702-0267le.Peer-Reviewed Original ResearchMeSH KeywordsArteriovenous MalformationsCohort StudiesComorbidityEmbolization, TherapeuticFemaleHumansHypertension, PulmonaryMaleMiddle AgedPrevalencePrognosisRetrospective StudiesTelangiectasia, Hereditary Hemorrhagic
2016
PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia
Ola R, Dubrac A, Han J, Zhang F, Fang JS, Larrivée B, Lee M, Urarte AA, Kraehling JR, Genet G, Hirschi KK, Sessa WC, Canals FV, Graupera M, Yan M, Young LH, Oh PS, Eichmann A. PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia. Nature Communications 2016, 7: 13650. PMID: 27897192, PMCID: PMC5141347, DOI: 10.1038/ncomms13650.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IActivin Receptors, Type IIAnimalsBone Morphogenetic ProteinsDisease Models, AnimalGene DeletionHuman Umbilical Vein Endothelial CellsHumansMiceModels, BiologicalNeovascularization, PathologicPhosphatidylinositol 3-KinasesPhosphoinositide-3 Kinase InhibitorsProtein Kinase InhibitorsRetinaSignal TransductionTelangiectasia, Hereditary HemorrhagicVascular Endothelial Growth Factor Receptor-2Vascular MalformationsConceptsHereditary haemorrhagic telangiectasia type 2Activin receptor-like kinase 1Arteriovenous malformationsAVM formationAlk1 deletionPharmacological PI3K inhibitionExcessive angiogenesisSerine-threonine kinase receptorsBone morphogenetic protein 9PI3K pathway activationHereditary haemorrhagic telangiectasiaPI3-kinase inhibitionReceptor-like kinase 1PI3K/AktPI3K inhibitionVascular lesionsVascular malformationsGastrointestinal tractMouse modelProtein 9Type 2Kinase 1Retinal vesselsGenetic deletionALK1 gene
2013
Bevacizumab: Finding its niche in the treatment of heart failure secondary to liver vascular malformations in hereditary hemorrhagic telangiectasia
Young LH, Henderson KJ, White RI, Garcia‐Tsao G. Bevacizumab: Finding its niche in the treatment of heart failure secondary to liver vascular malformations in hereditary hemorrhagic telangiectasia. Hepatology 2013, 58: 442-445. PMID: 23686865, DOI: 10.1002/hep.26472.Commentaries, Editorials and LettersMeSH KeywordsAngiogenesis InhibitorsAntibodies, Monoclonal, HumanizedArteriovenous MalformationsCardiac OutputFemaleHumansLiverMaleTelangiectasia, Hereditary Hemorrhagic
2009
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal Of Medical Genetics 2009, 48: 73. PMID: 19553198, DOI: 10.1136/jmg.2009.069013.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsStructured consensus processGuideline processDiagnosis of HHTGuidelines Working GroupLife-threatening hemorrhageHealth care workersHereditary haemorrhagic telangiectasiaOvid MEDLINE databasesConsensus processSignificant arteriovenous malformationsAutosomal dominant diseaseSymptomatic diseaseSystematic search strategyWorking GroupConsensus guidelinesArteriovenous malformationsEvidence tablesClinic staffGuideline conferenceHealth care administratorsGastrointestinal tractAvailable screeningCare workersGuideline methodologistsMEDLINE database
2000
Liver Disease in Patients with Hereditary Hemorrhagic Telangiectasia
Garcia-Tsao G, Korzenik J, Young L, Henderson K, Jain D, Byrd B, Pollak J, White R. Liver Disease in Patients with Hereditary Hemorrhagic Telangiectasia. New England Journal Of Medicine 2000, 343: 931-936. PMID: 11006369, DOI: 10.1056/nejm200009283431305.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiliary Tract DiseasesCardiac Output, HighFemaleHeart FailureHumansHypertension, PortalLiverLiver DiseasesMaleMiddle AgedTelangiectasia, Hereditary HemorrhagicConceptsHereditary hemorrhagic telangiectasiaHigh-output heart failureHemorrhagic telangiectasiaHeart failureMedian periodPortal hypertensionLiver involvementClinical findingsBiliary diseasePulmonary capillary wedge pressureElevated alkaline phosphatase levelsHepatic sinusoidal pressureSymptomatic liver involvementTypical clinical presentationAlkaline phosphatase levelsAutosomal dominant disorderHyperdynamic circulationAngiodysplastic lesionsCardiac indexLiver transplantationVariceal bleedingWedge pressureMedical therapyRendu-OslerClinical presentation