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
Prevalence 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: 38245059, DOI: 10.1007/s12350-023-03310-7.Peer-Reviewed Original ResearchConceptsTc-99m PYP uptakeExtracardiac uptakeATTR-CACardiac amyloidosisClinically actionable findingsDiagnose transthyretin cardiac amyloidosisTc-99Transthyretin cardiac amyloidosisBone uptakeTime of scanningBreast uptakeTc-99m PYP imagingThyroid uptakeHeart failureBlack raceRenal uptakeNuclear imagingPyrophosphate imagingTechnetium pyrophosphateHispanic ethnicityHispanic participantsNuclear scintigraphyMinority populationsClinicSelf-identifyClinical 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 testingAmyloidosisSubjectsDiagnostic 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
2020
Survival Following Implantable Cardioverter‐Defibrillator Implantation in Patients With Amyloid Cardiomyopathy
Higgins AY, Annapureddy AR, Wang Y, Minges KE, Lampert R, Rosenfeld LE, Jacoby DL, Curtis JP, Miller EJ, Freeman JV. Survival Following Implantable Cardioverter‐Defibrillator Implantation in Patients With Amyloid Cardiomyopathy. Journal Of The American Heart Association 2020, 9: e016038. PMID: 32867553, PMCID: PMC7726970, DOI: 10.1161/jaha.120.016038.Peer-Reviewed Original ResearchConceptsImplantable cardioverter defibrillator implantationCardioverter-defibrillator implantationNonischemic cardiomyopathyCardiac amyloidosisDiabetes mellitusCerebrovascular diseaseVentricular tachycardiaMultivariable Cox proportional hazards regression modelsCox proportional hazards regression modelProportional hazards regression modelsKaplan-Meier survival curvesCox proportional hazards modelPropensity-matched cohortOutcomes of patientsHazards regression modelsProportional hazards modelCause mortalityICD implantationRenal functionMultivariable analysisConclusions MortalityRisk factorsRegistry dataAmyloid cardiomyopathyHigh riskAdvances 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
Multicenter Study of Planar Technetium 99m Pyrophosphate Cardiac Imaging: Predicting Survival for Patients With ATTR Cardiac Amyloidosis
Castano A, Haq M, Narotsky DL, Goldsmith J, Weinberg RL, Morgenstern R, Pozniakoff T, Ruberg FL, Miller EJ, Berk JL, Dispenzieri A, Grogan M, Johnson G, Bokhari S, Maurer MS. Multicenter Study of Planar Technetium 99m Pyrophosphate Cardiac Imaging: Predicting Survival for Patients With ATTR Cardiac Amyloidosis. JAMA Cardiology 2016, 1: 880-889. PMID: 27557400, DOI: 10.1001/jamacardio.2016.2839.Peer-Reviewed Original ResearchConceptsATTR cardiac amyloidosisCardiac amyloidosisMulticenter studyWorse survivalEjection fractionHeart failureCardiac imagingMultivariable Cox proportional hazards regression analysisCox proportional hazards regression analysisProportional hazards regression analysisRetrospective cohort studyHigh clinical suspicionSingle-center studyHazards regression analysisKaplan-Meier analysisAL cardiac amyloidosisDifferentiation of patientsTransthyretin cardiac amyloidosisDates of analysisSemiquantitative visual scoreContralateral chestPlanar technetiumClinical suspicionCohort studyPrognostic importance