2023
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler W, Chung W, Alsheikh-Ali A, Di Donato R, Uddin M, Berdiev B. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiological Genomics 2023, 55: 634-646. PMID: 37811720, PMCID: PMC11550899, DOI: 10.1152/physiolgenomics.00070.2023.Peer-Reviewed Original ResearchConceptsSingle-cell transcriptomesCHD genesRisk genesEndocardial cellsMultiple genesCell typesSingle-cell transcriptomicsPhenotypic heterogeneityDe novo variantsCongential heart diseaseSingle-cell reconstructionGenesReconstruction analysisNeonatal congenital anomaliesGene heterogeneityAnalysis identifiesTranscriptomeMissense variantsNovo variantsCongenital heart diseaseGenomicsHeterogenous expressionFunction variantsHeart diseaseGenetics guidelines
2022
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity
Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation Genomic And Precision Medicine 2022, 15: e003500. PMID: 35130025, PMCID: PMC9295870, DOI: 10.1161/circgen.121.003500.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseDamaging de novo variantsMaternal diabetesPrenatal exposureHeart diseaseDe novo variantsParental ageIncidence of CHDNovo variantsCauses of CHDMaternal obesityObese mothersDiabetes riskPatientsCommon anomalyObesityDiabetesAgeWhole-genome sequencingDiseaseMothersGene studiesCauseExposureInfants
2021
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiology 2021, 6: 457-462. PMID: 33084842, PMCID: PMC7578917, DOI: 10.1001/jamacardio.2020.4947.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overCase-Control StudiesChildChild, PreschoolFemaleGene Expression RegulationGene FrequencyGenes, NeoplasmGenetic Predisposition to DiseaseGenetic VariationHeart Defects, CongenitalHumansInfantInfant, NewbornLoss of Function MutationMaleMiddle AgedNeoplasmsYoung AdultConceptsCongenital heart diseaseCancer risk genesCancer riskLoF variantsControl participantsHeart diseaseRisk genesMulticenter case-control studyStructural cardiac anomaliesTime of enrollmentCase-control studyDamaging variantsExtracardiac anomaliesExtracardiac manifestationsCardiac anomaliesClinical variablesNeurodevelopmental delayLongitudinal surveillanceMAIN OUTCOMEParent studyCommon birth defectsPatientsEarly interventionFunction variantsMultiple patients
2013
The Congenital Heart Disease Genetic Network Study
Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Pablo Kaski J, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E, Newburger J, Breitbart R, Colan S, Geva J, Monafo A, Roberts A, Stryker J, Seidman C, McDonough B, Seidman J, Goldmuntz E, Edman S, Garbarini J, Hakonarson H, Mercer-Rosa L, Mitchell L, Tusi J, White P, Woyciechowski S, Chung W, Warburton D, Awad D, Celia K, Etwaru D, Sond J, Kline J, Korsin R, Lanz A, Marquez E, Williams I, Wilpers A, Yee R, Gelb B, Guevara D, Julian A, Mac Neal M, Mintz C, Peter I, Sachidanandam R, Seiden H, Romano-Adesman A, Gruber D, Stellato N, Brueckner M, Lifton R, Cross N, Deanfield J, Giardini A, Flack K, Porter G, Taillie E, Kim R, Tran N, Tennstedt S, Breitbart R, Dandreo K, Gallagher D, Lu M, Sleeper L, Berlin D, Beiswanger C, Lifton R, Seidman J, Hakonarson H, White P, Italia M, Chung W, Seidman C, Brooks (Chair) M, Olive M, Botkin J, Dupuis J, Garg V, Watson M, Bristow J, Evans T, Kendziorski C, Mardis E, Murray J, Saltz J, Wong H. The Congenital Heart Disease Genetic Network Study. Circulation Research 2013, 112: 698-706. PMID: 23410879, PMCID: PMC3679175, DOI: 10.1161/circresaha.111.300297.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultBiological Specimen BanksChildChild, PreschoolClinical Trials as TopicConfidentialityData CollectionDatabases, FactualDNA Mutational AnalysisFollow-Up StudiesGene DosageGenetic Association StudiesGenomicsGenotypeHeart Defects, CongenitalHospitals, PediatricHumansInfantInfant, NewbornInterdisciplinary CommunicationNational Heart, Lung, and Blood Institute (U.S.)Outcome Assessment, Health CarePatient SelectionPhenotypeProspective StudiesRegistriesSchools, MedicalTranslational Research, BiomedicalUnited StatesYoung AdultConceptsGenetic factorsAtrial septal defectForms of CHDData-coordinating centerLate morbidityMost patientsObstructive lesionsPediatric Cardiac Genomics ConsortiumMedian ageClinical featuresBlood InstituteNational HeartSeptal defectComplex lesionsPremature mortalitySpecific genetic lesionsCore laboratoryCongenital heartCHDSaliva samplesAdequate DNALesionsBirth defectsInfant mortalityProbands
1999
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
Pehlivan T, Pober B, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D, Watson M, Hing A. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal Of Medical Genetics 1999, 83: 201-206. PMID: 10096597, DOI: 10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v.Peer-Reviewed Original ResearchConceptsCardiac transcription factor genesZinc finger transcription factorHuman chromosome armsTranscription factor genesFinger transcription factorCardiac gene expressionChromosome armsTranscription factorsFactor genesGene expressionGATA4 geneInterstitial deletionGATA-4GenesLociFISH analysisSitu hybridizationDeletionHaploinsufficiencySubmicroscopic deletionRecent studiesPhenotype of patientsCellsMonosomyNormal karyotype
1992
Neonatal correction of transposition of the great arteries: the Connecticut experience.
Dewar ML, Kleinman C, Hellenbrand W, Fahey J, Talner N, Brueckner M, Kopf GS. Neonatal correction of transposition of the great arteries: the Connecticut experience. Connecticut Medicine 1992, 56: 671-4. PMID: 1288934.Peer-Reviewed Original ResearchConceptsGreat arteriesAtrial levelSurgical approachNormal anatomyCommon congenital cardiac defectArterial switch patientsAtrial level repairNormal ventricular functionDuration of hospitalizationProcedure of choiceCongenital cardiac defectsTreatment of transpositionNormal sinus rhythmNeonatal correctionSwitch patientsOperative mortalityPulmonary stenosisVentricular functionIntensive careSinus rhythmCardiac defectsPatientsConnecticut experienceArterySignificant increase