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
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 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
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 Letters
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
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