2024
Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
De Lillo A, Pathak G, Low A, De Angelis F, Abou Alaiwi S, Miller E, Fuciarelli M, Polimanti R. Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins. Human Genomics 2024, 18: 31. PMID: 38523305, PMCID: PMC10962184, DOI: 10.1186/s40246-024-00596-7.Peer-Reviewed Original ResearchConceptsCardiac congenital anomaliesAmyloidogenic mutationsCross-ancestry meta-analysisCongenital anomaliesComplex genotype-phenotype correlationsVal122Ile mutationGenotype-phenotype correlationPeripheral nerve disordersHereditary form of amyloidosisAncestry-specificCross-ancestryEuropean-descent individualsEast AsiansTTR-related amyloidosisIndividuals of African descentPopulation originClinical presentationAtrioventricular blockClinical spectrumDelayed diagnosisTTR mutationsAfrican descentNerve disordersTransthyretin mutationMutations
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 ResearchConceptsATTR-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 participantsPatientsPrevalence and significance of extracardiac uptake on pyrophosphate imaging in the SCAN-MP study: the first 379 cases
Chan N, Einstein A, Griffin J, Rosenblum H, Teruya S, Cuomo M, De Los Santos J, DeLuca A, Johnson L, Kinkhabwala M, Leb J, Mintz A, Fine D, Helmke S, Muralidhar V, Pandey S, Sabogal N, Saith S, Winburn M, Smiley D, Miller E, Ruberg F, Maurer M. Prevalence and significance of extracardiac uptake on pyrophosphate imaging in the SCAN-MP study: the first 379 cases. Journal Of Nuclear Cardiology 2023, 30: 2531-2539. PMID: 37311914, DOI: 10.1007/s12350-023-03310-7.Peer-Reviewed Original ResearchConceptsExtracardiac uptakePYP uptakeCardiac amyloidosisBone uptakeActionable findingsTiming of scansTransthyretin cardiac amyloidosisHeart failureBreast uptakeMean ageBlack raceRenal uptakeHispanic ethnicityThyroid uptakeATTR-CANuclear scintigraphyHispanic participantsTechnetium pyrophosphateNuclear imagingPYP scanPopulation studiesSelf-identified BlackAdditional testingAmyloidosisSubjectsDesign 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 ResearchConceptsATTR-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 individualsPatientsDiagnostic performance characteristics of planar quantitative and semi-quantitative parameters of Tc99m pyrophosphate (PYP) imaging for diagnosis of transthyretin (ATTR) cardiac amyloidosis: the SCAN-MP study
Pandey S, Teruya S, Rodriguez C, Deluca A, Kinkhabwala M, Johnson L, Fine D, Sabogal N, Winburn M, Castillo M, Bhatia K, Malkovskaya R, Raiszadeh F, Kurian D, Miller E, Einstein A, Maurer M, Ruberg F. Diagnostic performance characteristics of planar quantitative and semi-quantitative parameters of Tc99m pyrophosphate (PYP) imaging for diagnosis of transthyretin (ATTR) cardiac amyloidosis: the SCAN-MP study. Journal Of Nuclear Cardiology 2023, 30: 1414-1419. PMID: 36823486, PMCID: PMC11268194, DOI: 10.1007/s12350-023-03203-9.Peer-Reviewed Original ResearchConceptsTransthyretin cardiac amyloidosisATTR-CACardiac amyloidosisLow pretest probabilityLow pretest likelihoodLV wall thicknessDiagnostic performance characteristicsPositive predictive valueNon-invasive diagnosisConclusionAmong patientsMinority older adultsHeart failurePretest likelihoodPretest probabilitySemi-quantitative parametersPYP uptakeImportant misclassificationPredictive valueImaging thresholdsOptimal heartOlder adultsDiagnostic performancePatientsReference standardScans
2022
Radiopharmaceutical supply disruptions and the use of 99mTc-hydroxymethylene diphosphonate as an alternative to 99mTc-pyrophosphate for the diagnosis of transthyretin cardiac amyloidosis: An ASNC Information Statement
Miller EJ, Campisi R, Shah NR, McMahon S, Cuddy S, Gallegos-Kattan C, Maurer MS, Damy T, Slart RHJA, Bhatia K, Einstein AJ. Radiopharmaceutical supply disruptions and the use of 99mTc-hydroxymethylene diphosphonate as an alternative to 99mTc-pyrophosphate for the diagnosis of transthyretin cardiac amyloidosis: An ASNC Information Statement. Journal Of Nuclear Cardiology 2022, 29: 2748-2760. PMID: 35838892, PMCID: PMC9285188, DOI: 10.1007/s12350-022-03059-5.Peer-Reviewed Original Research
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 procedures
2020
Advances in PET-Based Cardiac Amyloid Radiotracers
Gallegos C, Miller EJ. Advances in PET-Based Cardiac Amyloid Radiotracers. Current Cardiology Reports 2020, 22: 40. PMID: 32430600, DOI: 10.1007/s11886-020-01284-3.Peer-Reviewed Original ResearchConceptsPositron emission tomographyCardiac amyloidosisAmyloid depositionAmyloid radiotracersCardiac amyloid depositionCare of patientsTransthyretin cardiac amyloidosisCardiac imaging techniquesCongo red stainingPurpose of ReviewWeNovel positron emission tomographyEndomyocardial biopsyImaging featuresAmyloid depositsUnmet needInvasive methodEmission tomographyAmyloidosisGold standardAdditive valueRed stainingBiopsyFurther dataDiagnosisRecent studies
2017
Use of fluorine-18 sodium fluoride for the diagnosis of transthyretin cardiac amyloidosis: The birth of a new technique
Gallegos C, Miller EJ. Use of fluorine-18 sodium fluoride for the diagnosis of transthyretin cardiac amyloidosis: The birth of a new technique. Journal Of Nuclear Cardiology 2017, 25: 1568-1570. PMID: 28357811, DOI: 10.1007/s12350-017-0847-6.Peer-Reviewed Original Research
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 cardiomyopathyPatientsScintigraphy
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