2020
Genotype–Phenotype Correlations in Children with HHT
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME, . Genotype–Phenotype Correlations in Children with HHT. Journal Of Clinical Medicine 2020, 9: 2714. PMID: 32842615, PMCID: PMC7565052, DOI: 10.3390/jcm9092714.Peer-Reviewed Original ResearchBrain vascular malformationsHereditary hemorrhagic telangiectasiaPulmonary arteriovenous malformationsGenotype-phenotype correlationVascular malformationsArteriovenous malformationsHHT patientsCentral nervous systemRare autosomal dominant diseaseChi-square testAutosomal dominant diseaseGastrointestinal bleedingPediatric patientsMucocutaneous telangiectasiaHemorrhagic telangiectasiaGreater prevalenceNervous systemPatientsPhenotypic presentationDominant diseaseMalformationsAdultsChildrenTelangiectasiaMutations
2017
Clinical Significance of Pulmonary Arteriovenous Malformation Reperfusion
Kaufman C, Henderson K, Pollak J. Clinical Significance of Pulmonary Arteriovenous Malformation Reperfusion. Journal Of Clinical Interventional Radiology ISVIR 2017, 01: 156-160. DOI: 10.1055/s-0037-1604096.Peer-Reviewed Original ResearchSymptomatic patientsClinical significancePulmonary arteriovenous malformation (PAVM) embolizationTime of diagnosisPulmonary arteriovenous malformationsTime of embolizationTime of presentationArteriovenous malformation embolizationHHT CenterInitial embolizationMedical comorbiditiesRetrospective reviewClinical historySevere manifestationsPAVM embolizationArteriovenous malformationsInitial procedureEmbolization proceduresTreatment periodEmbolizationPatientsMild manifestationsReperfusionSymptomsPAVMsPulmonary 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 Research
2015
Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia
Kim H, Nelson J, Krings T, terBrugge K, McCulloch C, Lawton M, Young W, Faughnan M, Chakinala M, Gossage J, Henderson K, Iyer V, Kasthuri R, Lin D, Mager J, McWilliams J, McDonald J, Pawlikowska L, Pollak J, Ratjen F, Swanson K, Vethanayagam D, White A, White R, Wilcox P. Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. Stroke 2015, 46: 1362-1364. PMID: 25858236, PMCID: PMC4415515, DOI: 10.1161/strokeaha.114.007367.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAneurysm, RupturedChildChild, PreschoolCohort StudiesFemaleHumansInfantInfant, NewbornIntracranial Arteriovenous MalformationsIntracranial HemorrhagesMaleMiddle AgedRecurrenceRetrospective StudiesSocioeconomic FactorsSurvival AnalysisTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsHereditary hemorrhagic telangiectasiaBrain arteriovenous malformationsICH rateArteriovenous malformationsHemorrhage rateHemorrhagic telangiectasiaHigher ICH ratesIntracranial hemorrhage rateMajority of patientsICH presentationSymptomatic casesSystemic diseaseICH eventsMean ageAsymptomatic screeningMucocutaneous telangiectasiaHHT patientsHigh riskUnruptured casesPatientsMalformationsDiagnosisTelangiectasiaRehemorrhageEpistaxis
2012
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations
Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, terBrugge KG, White RI. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations. American Journal Of Medical Genetics Part A 2012, 158A: 2829-2834. PMID: 22991266, PMCID: PMC3610331, DOI: 10.1002/ajmg.a.35622.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IIAdolescentAdultAgedAntigens, CDArteriovenous FistulaChildChild, PreschoolEndoglinFemaleGenetic Association StudiesHumansInfantInfant, NewbornIntracellular Signaling Peptides and ProteinsIntracranial Arteriovenous MalformationsMaleMiddle AgedMutationReceptors, Cell SurfaceSmad4 ProteinTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaHistory of ICHIntracranial hemorrhageArteriovenous malformationsMean ageVascular malformationsHemorrhagic telangiectasiaMultiple brain arteriovenous malformationsAutosomal dominant genetic diseaseDominant genetic diseaseGenetic test resultsAVM characteristicsClinical manifestationsAVM diagnosisPatientsInitial examinationMultiple organsLarger studyACVRL1 mutationsENG mutationsMalformationsAgeSignificant differencesManifestations
2011
Reproducibility of Oxygen Saturation Monitoring During Six-Minute Walk Test and Exercise Stress Test in Patients with Pulmonary Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia
Li W, Niu B, Henderson K, Northrup V, Pollak JS, Trow T, Fahey J, White RI. Reproducibility of Oxygen Saturation Monitoring During Six-Minute Walk Test and Exercise Stress Test in Patients with Pulmonary Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia. Pediatric Cardiology 2011, 32: 590-594. PMID: 21336824, DOI: 10.1007/s00246-011-9917-8.Peer-Reviewed Original ResearchConceptsPulmonary arteriovenous malformationsHereditary hemorrhagic telangiectasiaOxygen saturationHeart rateWalk testArteriovenous malformationsHemorrhagic telangiectasiaSix-minute walk testOxygen saturation monitoringLowest oxygen saturationYears of ageHuman Investigation CommitteeStress testIntraclass correlation coefficientAnatomic subtypesExercise capacityMultiple complicationsPatientsAdjunct testSaturation monitoringAdequate restReproducible measureMalformationsTelangiectasiaBroad spectrum
2009
Results of Exercise Stress Testing in Patients with Diffuse Pulmonary Arteriovenous Malformations
Murphy J, Pierucci P, Chyun D, Henderson KJ, Pollak J, White RI, Fahey J. Results of Exercise Stress Testing in Patients with Diffuse Pulmonary Arteriovenous Malformations. Pediatric Cardiology 2009, 30: 978-984. PMID: 19636485, DOI: 10.1007/s00246-009-9491-5.Peer-Reviewed Original ResearchConceptsDiffuse pulmonary arteriovenous malformationsExercise stress testingPulmonary arteriovenous malformationsOxygen saturationMaximum exerciseArteriovenous malformationsRoom air oxygen saturationMean oxygen saturationStress testingCycle ergometer testNoncontrast chestBilateral involvementFrequent complicationComplete embolizationSerial studiesPatientsErgometer testOwn controlYoung adultsNoninvasive methodLimited experienceSignificant differencesMalformationsBaselineAge
2008
New Definition and Natural History of Patients With Diffuse Pulmonary Arteriovenous Malformations Twenty-Seven–Year Experience
Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RI. New Definition and Natural History of Patients With Diffuse Pulmonary Arteriovenous Malformations Twenty-Seven–Year Experience. CHEST Journal 2008, 133: 653-661. PMID: 18198252, DOI: 10.1378/chest.07-1949.Peer-Reviewed Original ResearchConceptsDiffuse pulmonary arteriovenous malformationsPulmonary arteriovenous malformationsBilateral involvementArteriovenous malformationsOxygen saturationInitial oxygen saturationSegmental pulmonary arteriesHigh-risk groupOperative deathsLung transplantConsecutive patientsDuodenal ulcerPulmonary arterySignificant morbidityArtery originLiver necrosisFemale genderBrain hemorrhagePatientsMortality rateNatural historyYears' experienceHemoptysisHemorrhageDeath
2006
Clinical and Anatomic Outcomes after Embolotherapy of Pulmonary Arteriovenous Malformations
Pollak JS, Saluja S, Thabet A, Henderson KJ, Denbow N, White RI. Clinical and Anatomic Outcomes after Embolotherapy of Pulmonary Arteriovenous Malformations. Journal Of Vascular And Interventional Radiology 2006, 17: 35-45. PMID: 16415131, DOI: 10.1097/01.rvi.0000191410.13974.b6.Peer-Reviewed Original ResearchConceptsPulmonary AVMsResidual lesionsCollateral vesselsPulmonary arteriovenous malformation (PAVM) embolizationBronchial collateral vesselsPulmonary collateral vesselsOnset of symptomsPulmonary arteriovenous malformationsArteriovenous malformation embolizationHereditary hemorrhagic telangiectasiaHelical computed tomographyUnderwent embolizationAnatomic outcomesAsymptomatic eventsCerebral ischemiaRespiratory manifestationsAnatomic evaluationPhysiologic evaluationSymptomatic eventsArteriovenous malformationsAVM embolizationClinical assessmentHemorrhagic telangiectasiaComputed tomographyPatients
2005
Outcome of Septal Dermoplasty in Patients With Hereditary Hemorrhagic Telangiectasia
Fiorella ML, Ross D, Henderson KJ, White RI. Outcome of Septal Dermoplasty in Patients With Hereditary Hemorrhagic Telangiectasia. The Laryngoscope 2005, 115: 301-305. PMID: 15689755, DOI: 10.1097/01.mlg.0000154754.39797.43.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaSeptal dermoplastySymptomatic liver diseaseCerebral arteriovenous malformationsHemorrhagic telangiectasiaArteriovenous malformationsLiver diseaseGastrointestinal tract bleedingPulmonary arteriovenous malformationsLife-threatening epistaxisTreatment of choiceQuality of lifeUnits 1 yearTract bleedingTransfusion requirementsOrgan involvementUnrelated causesConsecutive patientsSevere epistaxisRetrospective studySecond therapyMean ageGastrointestinal tractDermoplastyPatients
2004
Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy
Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, MacLusky I, Hyland RH, Pugash RA, Chait P, Henderson KJ, White RI. Pulmonary arteriovenous malformations in children: Outcomes of transcatheter embolotherapy. The Journal Of Pediatrics 2004, 145: 826-831. PMID: 15580209, DOI: 10.1016/j.jpeds.2004.08.046.Peer-Reviewed Original ResearchConceptsPulmonary arteriovenous malformationsTranscatheter embolotherapyArteriovenous malformationsPleuritic chest painLife-threatening complicationsLong-term complicationsChest painNeurologic complicationsComplication rateMean ageComplicationsPatientsFurther complicationsEmbolotherapyAdult ratesChildrenMalformationsOutcomesHemoptysisCyanosisReperfusionPain
2002
Vein of Galen Technique for Occluding the Aneurysmal Sac of Pulmonary Arteriovenous Malformations
Tal MG, Saluja S, Henderson KJ, White RI. Vein of Galen Technique for Occluding the Aneurysmal Sac of Pulmonary Arteriovenous Malformations. Journal Of Vascular And Interventional Radiology 2002, 13: 1261-1264. PMID: 12471191, DOI: 10.1016/s1051-0443(07)61975-7.Peer-Reviewed Original ResearchConceptsAneurysmal sacPulmonary arteriovenous malformation (PAVM) embolizationPulmonary arteriovenous malformationsArteriovenous malformation embolizationSafe occlusionGalen aneurysmConsecutive patientsPulmonary arteryDetachable balloonsFeeding arteriesArteriovenous malformationsIntracranial veinsStainless steel coilsPatientsArteryVeinSacEmbolization
2000
Long-Term Outcome of Embolotherapy and Surgery for High-Flow Extremity Arteriovenous Malformations
White R, Pollak J, Persing J, Henderson K, Thomson J, Burdge C. Long-Term Outcome of Embolotherapy and Surgery for High-Flow Extremity Arteriovenous Malformations. Journal Of Vascular And Interventional Radiology 2000, 11: 1285-1295. PMID: 11099238, DOI: 10.1016/s1051-0443(07)61302-5.Peer-Reviewed Original ResearchConceptsHigh-flow arteriovenous malformationsSuccessful embolotherapyArteriovenous malformationsExcellent long-term palliationExtremity arteriovenous malformationLong-term palliationRecurrence of symptomsLong-term efficacyMaximum painSurgical resectionSymptomatic improvementAffected handConsecutive patientsNerve blockSurgical cutdownDiffuse involvementTerm outcomesBony erosionFemoral arteryUpper extremitySkin graftsPatientsEmbolotherapy proceduresEmbolotherapyPainPulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations.
Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma T, White R. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000, 55: 959-64. PMID: 11061251, DOI: 10.1212/wnl.55.7.959.Peer-Reviewed Original ResearchConceptsMultiple pulmonary arteriovenous malformationsSingle pulmonary arteriovenous malformationPulmonary arteriovenous malformationsNeurologic manifestationsCortical infarctionParadoxical embolizationCerebral ischemiaRadiologic evidenceTreatment of PAVMsRetrospective cross-sectional studyCerebral imaging studiesNumber of PAVMsCross-sectional studyConsecutive patientsIschemic involvementPulmonary angiographyArtery diameterSubcortical infarctionAneurysmal sizeArteriovenous malformationsGreater oddsGreater prevalencePatientsInfarctionImaging studies