2023
Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study
Madhani A, Sabogal N, Massillon D, Paul L, Rodriguez C, Fine D, Helmke S, Winburn M, Kurian D, Raiszadeh F, Teruya S, Cohn E, Einstein A, Miller E, Connors L, Maurer M, Ruberg F. Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. Journal Of The American Heart Association 2023, 12: e028973. PMID: 37486082, PMCID: PMC10492994, DOI: 10.1161/jaha.122.028973.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmyloid Neuropathies, FamilialAmyloidosisCardiomyopathiesHealth Disparate, Minority and Vulnerable PopulationsHeart FailureHumansPenetrancePrealbuminProspective StudiesConceptsATTR-CMHeart failurePrealbumin concentrationsLeft ventricular wall thicknessPhenotypic penetranceHereditary ATTR-CMOlder black patientsAdvanced heart failureV122I variantVentricular wall thicknessProspective multisite studyYears of ageBlack individualsPyrophosphate imagingEchocardiographic parametersUnderdiagnosed causeBlack patientsSelf-identified Black individualsHF controlsClinical penetrancePrevalenceHispanic individualsMultisite studyBlack participantsPatientsDesign and Rationale the SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study
Ruberg F, Blaner W, Chiuzan C, Connors L, Einstein A, Fine D, Helmke S, Kurian D, Pandey S, Raiszadeh F, Rodriguez C, Sabogal N, Teruya S, Winburn M, Chung W, Cohn E, Miller E, Kelly J, Maurer M. Design and Rationale the SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. Journal Of The American Heart Association 2023, 12: e028534. PMID: 37066788, PMCID: PMC10227254, DOI: 10.1161/jaha.122.028534.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmyloid Neuropathies, FamilialCardiomyopathiesHealth Disparate, Minority and Vulnerable PopulationsHeart FailureHumansPrealbuminProspective StudiesConceptsATTR-CMHeart failureHealth/National HeartOlder black patientsYears of ageCaribbean Hispanic patientsDeposition of transthyretinNoninvasive nuclear imagingBlack patientsHispanic patientsProspective studyBlood InstituteSelf-identified Black individualsNational HeartCardiac amyloidosisUS FoodImportant causeSecondary objectiveOlder individualsSubstitution of valineHispanic individualsNuclear imagingNational InstituteBlack individualsPatients
2021
The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression
Pathak GA, De Lillo A, Wendt FR, De Angelis F, Koller D, Mendoza B, Jacoby D, Miller EJ, Buxbaum JN, Polimanti R. The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression. Amyloid 2021, 29: 110-119. PMID: 34935565, PMCID: PMC9213571, DOI: 10.1080/13506129.2021.2018678.Peer-Reviewed Original ResearchMeSH KeywordsAmyloid Neuropathies, FamilialElectronic Health RecordsFractures, BoneHumansPrealbuminTranscriptomeConceptsGenotype-Tissue Expression (GTEx) projectMulti-tissue analysisElectronic health recordsTTR amyloid formationGenetic regulationExpression projectRNA interferenceTranscriptomic profilesGene expressionExpression informationHepatic expressionHealth outcomesPhenotypic informationAmyloid formationHealth recordsCarpal tunnel syndromeTranscriptionTransthyretin expressionSystemic amyloidosesHepatic transcriptionPathological processesExpressionTunnel syndromeGastrointestinal diseasesSurgical proceduresOptimal interpretation of Tc99m PYP in 2020: Avoiding the million-dollar mistake
Gerber J, Miller EJ. Optimal interpretation of Tc99m PYP in 2020: Avoiding the million-dollar mistake. Journal Of Nuclear Cardiology 2021, 28: 503-506. PMID: 33442822, DOI: 10.1007/s12350-020-02503-8.Peer-Reviewed Original ResearchAmyloid Neuropathies, FamilialCardiomyopathiesHumansRadiopharmaceuticalsTechnetium Tc 99m PyrophosphateTomography, Emission-Computed, Single-Photon
2018
Time Course of Common Clinical Manifestations in Patients with Transthyretin Cardiac Amyloidosis: Delay From Symptom Onset to Diagnosis
Papoutsidakis N, Miller EJ, Rodonski A, Jacoby D. Time Course of Common Clinical Manifestations in Patients with Transthyretin Cardiac Amyloidosis: Delay From Symptom Onset to Diagnosis. Journal Of Cardiac Failure 2018, 24: 131-133. PMID: 29305186, DOI: 10.1016/j.cardfail.2017.12.005.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmyloidAmyloid Neuropathies, FamilialBiopsyCardiomyopathiesDisease ProgressionFemaleFollow-Up StudiesHumansMaleMyocardiumRetrospective StudiesTime Factors
2016
Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis?
Haq M, Pawar S, Berk JL, Miller EJ, Ruberg FL. Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis? JACC Cardiovascular Imaging 2016, 10: 713-714. PMID: 27568122, PMCID: PMC5318295, DOI: 10.1016/j.jcmg.2016.06.003.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAmyloid Neuropathies, FamilialAsymptomatic DiseasesCardiomyopathiesDisease ProgressionEarly DiagnosisFemaleGenetic Predisposition to DiseaseHeart FailureHumansMaleMiddle AgedMutationPhenotypePrealbuminPredictive Value of TestsRadionuclide ImagingRadiopharmaceuticalsTechnetium Tc 99m PyrophosphateNonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation 2016, 133: 2404-2412. PMID: 27143678, DOI: 10.1161/circulationaha.116.021612.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAmyloid Neuropathies, FamilialFemaleGenotyping TechniquesHumansMaleMiddle AgedPrealbuminConceptsCardiac ATTR amyloidosisBone scintigraphyCardiac transthyretin amyloidosisATTR amyloidosisMyocardial radiotracer uptakeRadiotracer uptakeTransthyretin amyloidosisMajority of patientsCardiac AL amyloidosisNoninvasive diagnostic criteriaMyocardial amyloid depositsPositive predictive valueHistological confirmationMulticenter studySpecialist centresMonoclonal gammopathyCardiac amyloidosisPromising therapyAL amyloidosisATTR amyloidDiagnostic criteriaAmyloid depositsFatal cardiomyopathyPatientsScintigraphyNational patterns in imaging utilization for diagnosis of cardiac amyloidosis: A focus on Tc99m-pyrophosphate scintigraphy
Harb SC, Haq M, Flood K, Guerrieri A, Passerell W, Jaber WA, Miller EJ. National patterns in imaging utilization for diagnosis of cardiac amyloidosis: A focus on Tc99m-pyrophosphate scintigraphy. Journal Of Nuclear Cardiology 2016, 24: 1094-1097. PMID: 27016106, DOI: 10.1007/s12350-016-0478-3.Peer-Reviewed Original ResearchMeSH KeywordsAmyloid Neuropathies, FamilialCardiomyopathiesFemaleHumansMaleMiddle AgedPractice Patterns, Physicians'PrevalenceRadiopharmaceuticalsTechnetium Tc 99m PyrophosphateUnited StatesUtilization ReviewConceptsCardiac amyloidosisCA diagnosisContralateral lung ratioTransthyretin cardiac amyloidosisLung ratioDiagnostic modalitiesMost centersTest utilizationWeb-based surveyScintigraphyMultiple centersDiagnosisQuantification of uptakeLow penetranceNational surveyAmyloidosisNational patternsCardiologistsDose
2013
Nuclear Tracers for Transthyretin Cardiac Amyloidosis
Ruberg FL, Miller EJ. Nuclear Tracers for Transthyretin Cardiac Amyloidosis. Circulation Cardiovascular Imaging 2013, 6: 162-164. PMID: 23512778, DOI: 10.1161/circimaging.113.000178.Peer-Reviewed Original Research