2024
Alirocumab in Pediatric Patients With Heterozygous Familial Hypercholesterolemia
Santos R, Wiegman A, Caprio S, Cariou B, Averna M, Poulouin Y, Scemama M, Manvelian G, Garon G, Daniels S. Alirocumab in Pediatric Patients With Heterozygous Familial Hypercholesterolemia. JAMA Pediatrics 2024, 178: 283-293. PMID: 38315470, PMCID: PMC10845038, DOI: 10.1001/jamapediatrics.2023.6477.Peer-Reviewed Original ResearchDouble-blind periodLipid-Lowering TherapyHeterozygous familial hypercholesterolemiaPediatric patientsLDL-CLipid parametersFamilial hypercholesterolemiaRecommended low-density lipoprotein cholesterolAdjunctive lipid-lowering therapiesSecondary efficacy end pointsEnd pointsPediatric patients aged 8Least-squares mean differenceEfficacy of alirocumabOpen-label periodEfficacy end pointLow-density lipoprotein cholesterolReduced LDL-CBaseline to weekPrimary end pointAdverse event incidencePatients aged 8Randomized clinical trialsSquare mean differencesStatistically significant reductionFamilial Hypercholesterolemia and Our Family’s Heart History: From Atherosclerosis and Angina to Awareness and Advocacy
Mszar R, Mszar E. Familial Hypercholesterolemia and Our Family’s Heart History: From Atherosclerosis and Angina to Awareness and Advocacy. Circulation Cardiovascular Quality And Outcomes 2024, 17: e010864. PMID: 38357792, DOI: 10.1161/circoutcomes.124.010864.Peer-Reviewed Original ResearchConceptsFamilial hypercholesterolemia
2023
Age- and sex-based heterogeneity in coronary artery plaque presence and burden in familial hypercholesterolemia: A multi-national study
Nasir K, Mszar R, Cainzos-Achirica M, Grandhi G, Tromp T, Alonso R, Bittencourt M, Bruckert E, Díaz-Díaz J, Gallo A, Hovingh G, Miname M, Muñiz-Grijalvo O, Pang J, de Isla L, Sijbrands E, Watts G, Mata P, Santos R. Age- and sex-based heterogeneity in coronary artery plaque presence and burden in familial hypercholesterolemia: A multi-national study. American Journal Of Preventive Cardiology 2023, 17: 100611. PMID: 38125206, PMCID: PMC10730992, DOI: 10.1016/j.ajpc.2023.100611.Peer-Reviewed Original ResearchCoronary artery calcificationCoronary artery diseaseComputed tomography angiographyObstructive coronary artery diseaseFamilial hypercholesterolemiaFemale patientsPrevalence of obstructive coronary artery diseaseNon-obstructive coronary artery diseaseNon-statin lipid-lowering therapyPlaque burdenBurden of coronary artery calcificationStatin-treated individualsLipid-Lowering TherapyBurden of subclinical coronary atherosclerosisSpectrum of atherosclerosisSubclinical coronary atherosclerosisHigh-risk populationPersonalized risk assessmentMulti-national studyStatin therapyMeasures of subclinical atherosclerosisArtery calcificationArtery diseaseRisk populationCoronary atherosclerosis
2022
Coronary Artery Calcium Score to Refine the Use of PCSK9i in Asymptomatic Individuals: A Multicohort Study
Cainzos‐Achirica M, Quispe R, Mszar R, Dudum R, Al Rifai M, Erbel R, Stang A, Jöckel K, Lehmann N, Schramm S, Schmidt B, Toth P, Rana J, Lima J, de Vasconcellos H, Lloyd‐Jones D, Joshi P, Ayers C, Khera A, Blaha M, Greenland P, Nasir K. Coronary Artery Calcium Score to Refine the Use of PCSK9i in Asymptomatic Individuals: A Multicohort Study. Journal Of The American Heart Association 2022, 11: e025737. PMID: 35943062, PMCID: PMC9496288, DOI: 10.1161/jaha.122.025737.Peer-Reviewed Original ResearchConceptsLow-density lipoprotein cholesterol levelsCoronary artery calciumAtherosclerotic cardiovascular diseaseLipoprotein cholesterol levelsClinically evident atherosclerotic cardiovascular diseaseSubclinical organ damageTraditional risk factorsHigh-risk scenariosRisk factorsAssociated with ASCVD eventsCholesterol levelsOrgan damageASCVD event ratesAtherosclerotic cardiovascular disease riskCoronary Artery Calcium TestingLow-density lipoprotein cholesterol <Coronary artery calcium scoreCoronary artery calcium burdenArtery calcium scoreASCVD eventsCalcium scoreArtery calciumFamilial hypercholesterolemiaPCSK9iMulticohort studyUpdates on the Use of Subclinical Atherosclerosis to Predict Risk of Cardiovascular Events in Heterozygous Familial Hypercholesterolemia
Gallo A, Mszar R, Miname M. Updates on the Use of Subclinical Atherosclerosis to Predict Risk of Cardiovascular Events in Heterozygous Familial Hypercholesterolemia. Current Atherosclerosis Reports 2022, 24: 407-418. PMID: 35386094, DOI: 10.1007/s11883-022-01017-7.Peer-Reviewed Original ResearchConceptsComputed tomography coronary angiographyRisk of cardiovascular eventsHeterozygous familial hypercholesterolemiaCoronary artery calciumHeFH subjectsRisk stratificationTherapeutic managementFamilial hypercholesterolemiaCardiovascular eventsCoronary artery calcium scoreLong-term follow-upOptimization of risk stratificationSubclinical atherosclerotic cardiovascular diseaseImprove risk stratificationReduction of atherosclerotic progressionCarotid Doppler ultrasoundAtherosclerotic cardiovascular diseaseHeFH childrenCoronary angiographyArtery calciumCardiovascular riskDoppler ultrasoundAtherosclerotic burdenHeFHSubclinical atherosclerosisGenetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease Molecular Basis to Clinical Diagnosis and Epidemiologic Burden
Mszar R, Webb G, Kulkarni V, Ahmad Z, Soffer D. Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease Molecular Basis to Clinical Diagnosis and Epidemiologic Burden. 2022, 106: 325-348. PMID: 35227434, DOI: 10.1016/j.mcna.2021.11.009.Peer-Reviewed Original ResearchConceptsLipid disordersHost of environmental factorsRisk of atherosclerotic cardiovascular diseaseFamilial chylomicronemia syndromeGenetic lipid disordersAtherosclerotic cardiovascular diseaseGeneral populationEpidemiological burdenChylomicronemia syndromeLipid parametersFamilial hypercholesterolemiaRare disordersCardiovascular diseaseSevere derangementCombined genotypesClinical diagnosisSyndromeUnited StatesEnvironmental factorsDisorders
2020
Self-Efficacy, Perceived Barriers to Care, and Health-Promoting Behaviors Among Franco-Americans Across Cardiovascular Risk Factors: A Cross-Sectional Study
Mszar R, Buscher S, McCann D, Taylor H. Self-Efficacy, Perceived Barriers to Care, and Health-Promoting Behaviors Among Franco-Americans Across Cardiovascular Risk Factors: A Cross-Sectional Study. American Journal Of Health Promotion 2020, 35: 703-707. PMID: 33375809, DOI: 10.1177/0890117120982412.Peer-Reviewed Original ResearchConceptsHealth care servicesHealth-promoting behaviorsCardiovascular risk factorsCare servicesSelf-EfficacyRisk factorsPrevalence of perceived barriersHealth Belief ModelCross-sectional surveyPublic health strategiesBarriers to CareLow self-efficacyCross-sectional studyAdministered in-personHigher-risk groupsHigh-risk subpopulationsPerceived BarriersHealth strategiesBelief ModelFamilial hypercholesterolemiaIn-personFamily historyHealthCardiovascular needsHigh cholesterolFamilial Hypercholesterolemia and the Founder Effect Among Franco-Americans: A Brief History and Call to Action
Mszar R, Buscher S, Taylor H, Rice-DeFosse M, McCann D. Familial Hypercholesterolemia and the Founder Effect Among Franco-Americans: A Brief History and Call to Action. CJC Open 2020, 2: 161-167. PMID: 32462130, PMCID: PMC7242505, DOI: 10.1016/j.cjco.2020.01.003.Peer-Reviewed Original ResearchFounder effectReduced genetic diversityFamilial hypercholesterolemiaFrench-Canadian founder populationFrench Canadian descentPremature atherosclerotic cardiovascular diseaseFrench CanadiansGenetic diversityFounder populationIncreased risk of premature atherosclerotic cardiovascular diseaseAtherosclerotic cardiovascular diseaseMontreal-FH-SCOREPopulation-based researchCardiovascular diseaseCascade screeningRisk of premature atherosclerotic cardiovascular diseaseGenetic mutationsElevated low-density lipoprotein cholesterol levelsUnited StatesProvince of QuebecTreatment gapLow-density lipoprotein cholesterol levelsEpidemiological researchOptimal lipid managementInherited disorder
2018
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
Sun Y, Damrauer S, Hui Q, Assimes T, Ho Y, Natarajan P, Klarin D, Huang J, Lynch J, DuVall S, Pyarajan S, Honerlaw J, Gaziano J, Cho K, Rader D, O’Donnell C, Tsao P, Wilson P, Ramoni R, Breeling J, Chang K, Huang G, Muralidhar S, Muralidhar S, Moser J, Whitbourne S, Brewer J, Concato J, Warren S, Argyres D, Stephens B, Brophy M, Humphries D, Do N, Shayan S, Nguyen X, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Harley J, Whittle J, Beckham J, Wells J, Gutierrez S, Gibson G, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Haddock K, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Buford M, Mastorides S, Klein J, Ratcliffe N, Florez H, Swann A, Murdoch M, Sriram P, Yeh S, Washburn R, Jhala D, Aguayo S, Cohen D, Sharma S, Callaghan J, Oursler K, Whooley M, Ahuja S, Gutierrez A, Schifman R, Greco J, Rauchman M, Servatius R, Oehlert M, Wallbom A, Fernando R, Morgan T, Stapley T, Sherman S, Anderson G, Tsao P, Sonel E, Boyko E, Meyer L, Gupta S, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program. Circulation Genomic And Precision Medicine 2018, 11 PMID: 31106297, PMCID: PMC6516478, DOI: 10.1161/circgen.118.002192.Peer-Reviewed Original ResearchConceptsCoronary heart diseasePathogenic FH variantsFamilial hypercholesterolemiaFH variantsClinical outcomesHigh prevalenceLow-density lipoprotein cholesterolPremature coronary heart diseasePeripheral artery diseaseLDL-C levelsLow-density lipoproteinMulti-ethnic populationCardiovascular outcomesArtery diseaseLipoprotein cholesterolCholesterol levelsHeart diseaseMillion Veteran ProgramRisk individualsPhenome-wide scanGenetic Variants AssociatedClinical diagnosisClinical encountersHypercholesterolemiaMulti-ethnic participantsCardiovascular event reduction with PCSK9 inhibition among 1578 patients with familial hypercholesterolemia: Results from the SPIRE randomized trials of bococizumab
Ridker PM, Rose LM, Kastelein JJP, Santos RD, Wei C, Revkin J, Yunis C, Tardif JC, Shear CL, Investigators S. Cardiovascular event reduction with PCSK9 inhibition among 1578 patients with familial hypercholesterolemia: Results from the SPIRE randomized trials of bococizumab. Journal Of Clinical Lipidology 2018, 12: 958-965. PMID: 29685591, DOI: 10.1016/j.jacl.2018.03.088.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntibodies, Anti-IdiotypicAntibodies, Monoclonal, HumanizedAnticholesteremic AgentsCardiovascular DiseasesCholesterol, LDLFemaleHumansHydroxymethylglutaryl-CoA Reductase InhibitorsHyperlipoproteinemia Type IIMaleMiddle AgedPlacebo EffectProportional Hazards ModelsProprotein Convertase 9Risk FactorsConceptsProprotein convertase subtilisin kexin type 9Major adverse cardiovascular eventsAdverse cardiovascular eventsPCSK9 inhibitionNon-FH patientsFH patientsCardiovascular eventsFamilial hypercholesterolemiaMean (SD) baseline LDL-C levelElevated low-density lipoprotein cholesterolFuture cardiovascular event ratesBaseline LDL-C levelsLow-density lipoprotein cholesterolSubtilisin kexin type 9Cardiovascular event reductionHard cardiovascular eventsHard cardiovascular outcomesPlacebo-controlled dataPrimary prevention patientsCardiovascular event ratesLDL-C reductionProportion of patientsClinical trial programLDL-C levelsIncidence rate ratios
2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLOS ONE 2015, 10: e0135193. PMID: 26332594, PMCID: PMC4558085, DOI: 10.1371/journal.pone.0135193.Peer-Reviewed Original ResearchConceptsSecondary findingsAdditional truncating variantsRelevant secondary findingsCancer predisposition syndromeClinical laboratory specialistsActionable secondary findingsCardiac conditionsAmerican CollegeFamilial hypercholesterolemiaPredisposition syndromeAfrican ancestry groupPathogenic variantsTruncating variantsClinical standardsLiterature reviewActionable conditionsImportant secondary findingActionable findingsDiseaseACMG genesLaboratory specialistsUnderstudied populationAncestry groupsCandidate variantsExpert physicians
2007
PO23-763 EFFICACY AND SAFETY OF COMBINATION TORCETRAPIB/ATORVASTATIN VERSUS ATORVASTATIN ALONE IN PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Revkin J, Ose L, Marais A, Pretorius M, Viljoen J, Burgess L, Lan S, Thuren T, Shear C. PO23-763 EFFICACY AND SAFETY OF COMBINATION TORCETRAPIB/ATORVASTATIN VERSUS ATORVASTATIN ALONE IN PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA. Atherosclerosis Plus 2007, 8: 203. DOI: 10.1016/s1567-5688(07)71773-7.Peer-Reviewed Original ResearchHeterozygous familial hypercholesterolemiaVersus AtorvastatinFamilial hypercholesterolemiaHypercholesterolemiaPatientsEffect of Torcetrapib on Carotid Atherosclerosis in Familial Hypercholesterolemia
Kastelein JJ, van Leuven SI, Burgess L, Evans GW, Kuivenhoven JA, Barter PJ, Revkin JH, Grobbee DE, Riley WA, Shear CL, Duggan WT, Bots ML. Effect of Torcetrapib on Carotid Atherosclerosis in Familial Hypercholesterolemia. New England Journal Of Medicine 2007, 356: 1620-1630. PMID: 17387131, DOI: 10.1056/nejmoa071359.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnticholesteremic AgentsAtherosclerosisAtorvastatinCarotid ArteriesCarotid Artery DiseasesCholesterol Ester Transfer ProteinsCholesterol, HDLCholesterol, LDLDisease ProgressionDouble-Blind MethodDrug Therapy, CombinationFemaleHeptanoic AcidsHeterozygoteHumansHyperlipoproteinemia Type IIMaleMiddle AgedProspective StudiesPyrrolesQuinolinesConceptsCarotid intima-media thicknessIntima-media thicknessHDL cholesterol levelsCholesterol levelsFamilial hypercholesterolemiaMean low-density lipoprotein cholesterol levelLow-density lipoprotein cholesterol levelsMean carotid intima-media thicknessMaximum carotid intima-media thicknessAverage systolic blood pressureMean HDL cholesterol levelHigh-density lipoprotein cholesterolCarotid arterial wall thicknessCommon carotid segmentEffects of torcetrapibSecondary efficacy measuresLipoprotein cholesterol levelsSystolic blood pressureAtherosclerotic vascular diseaseCommon carotid arteryB-mode ultrasonographyProgression of diseaseArterial wall thicknessCholesteryl ester transfer proteinEster transfer proteinDesigns of RADIANCE 1 and 2:carotid ultrasound studies comparing the effects of torcetrapib/atorvastatin with atorvastatin alone on atherosclerosis*
Kastelein JJ, van Leuven SI, Evans GW, Riley WA, Revkin JH, Shear CL, Bots ML. Designs of RADIANCE 1 and 2:carotid ultrasound studies comparing the effects of torcetrapib/atorvastatin with atorvastatin alone on atherosclerosis*. Current Medical Research And Opinion 2007, 23: 885-894. PMID: 17407645, DOI: 10.1185/030079907x182121.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlgorithmsAnticholesteremic AgentsAtherosclerosisAtorvastatinCarotid ArteriesClinical Trials as TopicDouble-Blind MethodDrug Therapy, CombinationFemaleHeptanoic AcidsHumansHyperlipidemia, Familial CombinedHyperlipoproteinemia Type IIMaleMiddle AgedModels, BiologicalPyrrolesQuinolinesResearch DesignTunica IntimaUltrasonographyConceptsCarotid intima-media thicknessMaximum carotid intima-media thicknessNCEP ATP III guidelinesATP III guidelinesCarotid ultrasound studiesDose of atorvastatinPrimary efficacy measureLDL-C levelsIntima-media thicknessHeterozygous familial hypercholesterolemiaEnd of studyB-mode ultrasonographyFurther outcome measuresRADIANCE studyEligible subjectsControlled TrialsAtherosclerotic progressionEfficacy measuresMixed hyperlipidemiaTreatment periodOutcome measuresUltrasound studyNumber of subjectsFamilial hypercholesterolemiaCarotid segmentsIntrathoracic xanthoma mimicking lung cancer in a patient with familial hypercholesterolemia type II: a case report.
Guvener M, Ucar H, Tok M, Dogan O, Yildiz I, Yilmaz M, Firat P. Intrathoracic xanthoma mimicking lung cancer in a patient with familial hypercholesterolemia type II: a case report. The Heart Surgery Forum 2007, 10: e3-5. PMID: 17162397, DOI: 10.1532/hsf98.20061030.Peer-Reviewed Original ResearchConceptsLarge tumor-like massChest X-ray filmComplaints of dyspneaBenign soft tissue lesionTumor-like massSoft tissue lesionsX-ray filmsChest painCardiopulmonary bypassRight hemithoraxPrior diagnosisCase reportHistopathologic findingsLung cancerTendon sheathTomography scanTracheal segmentsThoracic cavityRare locationFamilial hypercholesterolemiaXanthomasPatientsType IIDyspneaCough
2005
W10-P-018 Design of a study comparing torcetrapib/atorvastatin with atorvastatin alone on atherosclerosis in patients with familial hypercholesterolemia
Kastelern J, Bots M, Riley W, Evans G, Meijer R, Revkin J, Raszewska J, Shear C, Thuren T. W10-P-018 Design of a study comparing torcetrapib/atorvastatin with atorvastatin alone on atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis Plus 2005, 6: 51-52. DOI: 10.1016/s1567-5688(05)80205-3.Peer-Reviewed Original ResearchFamilial hypercholesterolemia
2002
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease
Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion M, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Group of FH O. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Human Mutation 2002, 20: 477-477. PMID: 12442279, DOI: 10.1002/humu.9087.Peer-Reviewed Original ResearchConceptsDouble mutant alleleLDL receptor geneFamilial hypercholesterolemiaHomozygous patientsReceptor geneSpanish FH patientsCholesterol-lowering treatmentLDL cholesterol reductionPlasma cholesterol levelsAbility of LDLMitogen-stimulated lymphocytesCholesterol levelsCholesterol reductionFH patientsCardiovascular diseasePatientsHomozygous FHHeterozygous patientsUnrelated patientsCytometric analysisHypercholesterolemiaLDL bindingDefective LDL bindingCell proliferationGenetic disorders
1999
Impact of different low-density lipoprotein (LDL) receptor mutations on the ability of LDL to support lymphocyte proliferation
Martínez-Botas J, Suárez Y, Reshef A, Carrero P, Ortega H, Gómez-Coronado D, Teruel J, Leitersdorf E, Lasunción M. Impact of different low-density lipoprotein (LDL) receptor mutations on the ability of LDL to support lymphocyte proliferation. Metabolism 1999, 48: 834-839. PMID: 10421221, DOI: 10.1016/s0026-0495(99)90214-7.Peer-Reviewed Original ResearchConceptsLow-density lipoproteinAbility of LDLFamilial hypercholesterolemiaReceptor mutationsLow-density lipoprotein receptor mutationNormal low density lipoproteinHomozygous familial hypercholesterolemiaDifferent LDL receptor mutationsEndogenous cholesterol synthesisLDL receptor mutationsMitogen-stimulated lymphocytesLymphocyte proliferationPeripheral lymphocytesLDL particlesLymphocytesMitogenic effectCytometric analysisCholesterol synthesisLDL bindingCase 2Case 1Similar extentCompound heterozygotesDefective internalizationDifferent phenotypes
1977
Did They Ignore Genetics?
Hsia Y, Kidd K. Did They Ignore Genetics? 1977, 60: 938-938. DOI: 10.1542/peds.60.6.938.Peer-Reviewed Original Research
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