2025
Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.
Ward T, Morton S, Venturini G, Tai W, Jang M, Gorham J, Delaughter D, Wasson L, Khazal Z, Homsy J, Gelb B, Chung W, Bruneau B, Brueckner M, Tristani-Firouzi M, DePalma S, Seidman C, Seidman J. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. Journal Of The American Heart Association 2025, 14: e036860. PMID: 40028843, DOI: 10.1161/jaha.124.036860.Peer-Reviewed Original ResearchConceptsLoss-of-functionCongenital heart diseaseChromatin accessibilityMissense variantsCHD probandsPluripotent stem cellsHomozygous loss-of-functionCHD-associated genesHeterozygous loss-of-functionTranscription factor bindingMutant induced pluripotent stem cellsChromatin immunoprecipitation dataChromatin peaksStem cellsChromatin interactionsInduced pluripotent stem cellsFactor bindingTranscription factor NanogExome sequencingImmunoprecipitation dataTranscription factorsRNA sequencingChromatinMissenseMolecular consequencesRecessive genetic contribution to congenital heart disease in 5,424 probands
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, Morton S, Zhang J, López-Giráldez F, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, Cnota J, Wagner M, Srivastava D, Bernstein D, Porter G, Newburger J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Seidman J, Chung W, Gelb B, Seidman C, Lifton R, Brueckner M. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2419992122. PMID: 40030011, PMCID: PMC11912448, DOI: 10.1073/pnas.2419992122.Peer-Reviewed Original ResearchConceptsRecessive genotypeCHD probandsCongenital heart diseaseAssociated with laterality defectsGene-based analysisAnalyzed whole-exome sequencingLeft-sided congenital heart diseaseWhole-exome sequencingCongenital heart disease phenotypeAshkenazi Jewish probandsOffspring of consanguineous unionsSingle-cell transcriptomicsCHD geneExome sequencingMouse notochordSecreted proteinsConsanguineous familyFounder variantGenesSignificant enrichmentLaterality phenotypesHeart diseaseProbandsAbnormal contractile functionConsanguineous unionsRisk of late sudden death after surgery for congenital heart disease.
Needleman J, Whitehill R, Claxton J, McCracken C, Zmora R, Vinocur J, Oster M, Kochilas L. Risk of late sudden death after surgery for congenital heart disease. Cardiology In The Young 2025, 1-7. PMID: 40012309, DOI: 10.1017/s1047951125000277.Peer-Reviewed Original ResearchCongenital heart diseaseSudden cardiac deathSingle-ventricle physiologyCongenital heart surgerySudden cardiac death riskCardiac deathCardiac death riskHeart surgerySingle-ventricleHeart failurePediatric Cardiac Care Consortium RegistryRisk of late sudden deathLeft-to-right shunt lesionsLeft-to-right shuntCongenital heart disease typeMild congenital heart diseaseHeart diseaseLong-term follow-upDeath riskLate sudden deathGeneral populationCardiac death patientsSudden cardiac death patientsYears of ageMortality ratioCACNA1G, A Heterotaxy Candidate Gene, Plays a Role in Ciliogenesis and Left‐Right Patterning in Xenopus tropicalis
Kostiuk V, Kabir R, Akbari R, Rushing A, González D, Kim A, Kim A, Zenisek D, Khokha M. CACNA1G, A Heterotaxy Candidate Gene, Plays a Role in Ciliogenesis and Left‐Right Patterning in Xenopus tropicalis. Genesis 2025, 63: e70009. PMID: 40008628, PMCID: PMC11867209, DOI: 10.1002/dvg.70009.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseCACNA1GLow-voltage-activated calcium channelsExpression of Cacna1gCalcium channelsPatient cohortCardiac functionLR patterningHeterotaxyLR organizerChannel familyCACNA1SHeart diseaseLeft-rightG expressionXenopus tropicalisAbnormal expressionProcess of cilia formationCardiac loopingMultiple organsSignaling cascadesLR asymmetryPatientsT-typeEmbryonic developmentRobotic Congenital Cardiac Surgery Practice Worldwide: A Systematic Review
Lee M, Amabile A, Hameed I, Antonios J, Awad A, Brackett A, Krane M, Gruber P, Geirsson A. Robotic Congenital Cardiac Surgery Practice Worldwide: A Systematic Review. Journal Of Cardiac Surgery 2025, 2025 DOI: 10.1155/jocs/4692522.Peer-Reviewed Original ResearchCase reportTreatment of congenital heart diseaseAdult cardiac surgery patientsHighest incidence of morbidityCannulation-related complicationsImproved surgeon experienceCongenital heart diseaseCardiac surgery patientsSmall case seriesIncidence of morbidityIndependent reviewers screened titles/abstractsInconsistent outcome reportingNewcastle-Ottawa ScaleNonrandomized observational studyCardiac surgery operationsComprehensive literature searchCongenital operationsCongenital diagnosisCongenital surgeryPediatric patientsPleural effusionCase seriesRetrospective studySurgeon experienceHeart blockPrenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region
Haxel C, Wang A, Levine J, Drucker N, Hart M, Glatz J, Ferdman D, Karnik R, Tsirka A, Arya P, Doherty M, Laraja K, Hagenbuch S, Rotondo K. Prenatal Diagnosis of Congenital Heart Disease in Liveborn Infants in the New England Region. Pediatric Cardiology 2025, 1-5. PMID: 39849107, DOI: 10.1007/s00246-025-03778-9.Peer-Reviewed Original ResearchCongenital heart diseasePediatric cardiology centersPrenatal diagnosis of congenital heart diseaseDiagnosis of congenital heart diseasePrenatal diagnosisCardiology centersHeart diseaseDetection of congenital heart diseaseDiagnostic rateRates of prenatal detectionPediatric cardiology carePrenatal diagnostic ratePrenatal detection ratePrenatal diagnosis rateEarly cardiac catheterizationDetection ratePrenatal diagnosis dataMonths of lifeFetal echocardiogramFetal evaluationIncrease appropriate referralsLiveborn infantsPrenatal detectionCardiac catheterizationFetal detectionTakotsubo Syndrome in a 47-Year-Old Woman With Repaired Tetralogy of Fallot
Kayani J, Bailey L, Hopkins K, Zaidi A, Love B. Takotsubo Syndrome in a 47-Year-Old Woman With Repaired Tetralogy of Fallot. JACC Case Reports 2025, 30: 102804. PMID: 39886417, PMCID: PMC11775812, DOI: 10.1016/j.jaccas.2024.102804.Peer-Reviewed Original ResearchCase of takotsubo syndromeCongenital heart diseaseTakotsubo syndromePremenopausal womenAdult congenital heart diseaseCongenital heart disease populationComplex congenital heart diseaseEvidence of coronary artery diseaseHeart diseaseHeart disease populationExtremely rare caseAcquired cardiac diseaseRegional systolic dysfunctionCoronary artery diseaseAcute plaque ruptureRepaired tetralogySystolic dysfunctionNonischemic cardiomyopathyBroken-heart syndromeRare formAcute onsetMyocardial contractilityArtery diseaseCardiac diseaseChest tightness
2024
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact
Mondragon-Estrada E, Newburger J, DePalma S, Brueckner M, Cleveland J, Chung W, Gelb B, Goldmuntz E, Hagler D, Huang H, McQuillen P, Miller T, Panigrahy A, Porter G, Roberts A, Rollins C, Russell M, Tristani-Firouzi M, Grant P, Im K, Morton S. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. IScience 2024, 28: 111707. PMID: 39877905, PMCID: PMC11772982, DOI: 10.1016/j.isci.2024.111707.Peer-Reviewed Original ResearchNoncoding variantsCongenital heart diseaseFunctions related to neuronal developmentGene regulatory signalsH3K9me2 modificationRegulatory signalsCongenital heart disease cohortsDevelopmental pathwaysNeuronal developmentFolding patternHeart diseaseFunctional impactGenetic factorsGenesVariantsBrain developmentPredictive impactSulcal patternsExpanding artificial intelligence to understudied populations: congenital heart disease as the next frontier
Oikonomou E, Khera R. Expanding artificial intelligence to understudied populations: congenital heart disease as the next frontier. European Heart Journal 2024, 46: 869-871. PMID: 39523016, PMCID: PMC11879170, DOI: 10.1093/eurheartj/ehae737.Commentaries, Editorials and LettersCongenital heart diseaseHeart diseaseCT for Congenital Heart Disease
Fuss C. CT for Congenital Heart Disease. 2024, 277-293. DOI: 10.1007/978-981-97-6919-3_21.Peer-Reviewed Original ResearchCongenital heart diseaseHeart diseaseEvaluation of congenital heart diseaseManagement of congenital heart diseaseContrast doseAffected patientsBirth defectsStages of repairRadiation exposureAltered physiologySmall organ sizeCT roleDiseaseVariable stagesCongenitallyPatientsCTDoseSpatial image resolutionComplexity of defectsBirthCardiac Disease in Pregnancy
Cifuentes J, Fardelmann K. Cardiac Disease in Pregnancy. 2024, 41-53. DOI: 10.1007/978-3-031-62756-9_6.Peer-Reviewed Original ResearchCongenital heart diseaseCardiac diseaseHeart diseasePregnant patientsPrevalence of congenital heart diseaseMaternal-fetal medicine physiciansRegistry of pregnanciesHigh-risk pregnanciesPregnancy-related mortalityProportion of patientsIncreasing maternal ageValvular heart diseasePeripartum planFetal outcomesMaternal morbidityPostpartum managementAntepartum periodDelivery hospitalizationsChronic medical conditionsComplication rateMaternal ageProspective studyDiabetes mellitusCardiothoracic surgeonsPregnancyHigh-Dimensional Single-Cell Mass Cytometry Demonstrates Differential Platelet Functional Phenotypes in Infants With Congenital Heart Disease
Gu S, Marcus B, Gu V, Varghese A, Hwa J, Faustino E. High-Dimensional Single-Cell Mass Cytometry Demonstrates Differential Platelet Functional Phenotypes in Infants With Congenital Heart Disease. Arteriosclerosis Thrombosis And Vascular Biology 2024, 44: 2530-2539. PMID: 39171400, PMCID: PMC11602369, DOI: 10.1161/atvbaha.124.321131.Peer-Reviewed Original ResearchCongenital heart diseaseNon-CHD controlsSubpopulation of plateletsCytokine analysisAssociated with congenital heart diseaseSurface markersPlatelet activationHeart diseaseAssociated with hematological abnormalitiesChildren's Heart CenterPlasma cytokine analysisComplex heart defectsBlood of infantsThrombotic vascular complicationsIL (interleukin)-6Cell surface markersDecreased platelet activationMass cytometry approachPlatelet surface markersHypogranular plateletsHeart defectsBleeding eventsPlasma cytokinesPlatelet function phenotypesInflammatory markersMaternal implications of fetal anomalies: a population-based cross-sectional study
Atwani R, Aziz M, Saade G, Reddy U, Kawakita T. Maternal implications of fetal anomalies: a population-based cross-sectional study. American Journal Of Obstetrics & Gynecology MFM 2024, 6: 101440. PMID: 39089580, DOI: 10.1016/j.ajogmf.2024.101440.Peer-Reviewed Original ResearchCongenital diaphragmatic herniaCongenital heart diseasePresence of fetal anomaliesAdjusted relative risksFetal anomaliesCleft lipMaternal morbidityDiaphragmatic herniaAdjusted risk differencesChromosomal disordersMultiple anomaliesLimb anomaliesHeart diseaseMaternal intensive care unit admissionRisk of severe maternal morbidityAssociated with maternal morbidityCyanotic congenital heart diseaseMultiple fetal anomaliesRisk of SMMAdverse maternal health outcomesIntensive care unit admissionAdverse maternal outcomesPopulation-based cross-sectional studySevere maternal morbidityIncreased absolute riskThe Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review
Wilpers A, Eichhorn B, Batten J, Francis K, Powne A, Jumale S, Hansen K, Kohari K, Lorch S. The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review. Diagnostics 2024, 14: 1503. PMID: 39061640, PMCID: PMC11276164, DOI: 10.3390/diagnostics14141503.Peer-Reviewed Original ResearchSocial determinants of healthIndicators of social determinants of healthCongenital heart diseaseSocial determinantsFetal care centersIndividual-level social determinants of healthSocial determinants of health categoriesSocial determinants of health indicatorsSocial determinants of health frameworkDeterminants of healthFetal conditionStructural-level factorsHealthy peopleScoping reviewSocioeconomic statusPostnatal planMaternal ageCare centerIndividual studiesFetal diagnosisPrenatal treatmentHealthyHeart diseaseAnalyzed dataTimely identificationScreening and Prophylaxis for Venous Thromboembolism in Pediatric Surgery: A Systematic Review
Kelley-Quon L, Acker S, St Peter S, Goldin A, Yousef Y, Ricca R, Mansfield S, Sulkowski J, Huerta C, Lucas D, Rialon K, Christison-Lagay E, Ham P, Rentea R, Beres A, Kulaylat A, Chang H, Polites S, Diesen D, Gonzalez K, Wakeman D, Baird R. Screening and Prophylaxis for Venous Thromboembolism in Pediatric Surgery: A Systematic Review. Journal Of Pediatric Surgery 2024, 59: 161585. PMID: 38964986, DOI: 10.1016/j.jpedsurg.2024.05.015.Peer-Reviewed Original ResearchIncidence of venous thromboembolismVenous thromboembolismPharmacological prophylaxisSystematic reviewUltrasound screeningEpidemiology of venous thromboembolismAmerican Pediatric Surgical Association OutcomesPreferred Reporting ItemsStudy systematically reviewsLow-molecular-weight heparinRoutine ultrasound screeningCongenital heart diseasePediatric trauma populationPediatric surgical populationBody mass indexPediatric surgical patientsMolecular weight heparinSequential compression devicesInjury Severity ScoreCentral line placementSpinal cord injuryInflammatory bowel diseaseWeb of Science databasesLength of stayReporting ItemsRBX1-CRLs Promote Perinatal Heart Development by Regulating Hippo-YAP Signaling
Zambrano-Carrasco J, Wang W, Ayala J, Sibley J, Carruth J, Jiao K, Li J, Su H. RBX1-CRLs Promote Perinatal Heart Development by Regulating Hippo-YAP Signaling. Physiology 2024, 39: 963. DOI: 10.1152/physiol.2024.39.s1.963.Peer-Reviewed Original ResearchCullin-RING E3 ubiquitin ligasesCongenital heart diseaseCardiomyocyte proliferationCardiac developmentNuclear translocation of YAPTransfer of ubiquitinMulti-subunit complexesE3 ubiquitin ligasePerinatal heart developmentTranslocation of YAPHippo-YAP signalingInactivation of YAPImpaired nuclear translocationCo-transcription factorCardiac malformationsMyocardial hypoplasiaPeripheral edemaAdaptor proteinCKO heartsCullin-RINGLittermate controlsProtein substratesEdU incorporation assayHippo kinasesProtein homeostasisNoninvasive Ventilation in the Cardiac Intensive Care Unit.
Schenck C, Chouairi F, Dudzinski D, Miller P. Noninvasive Ventilation in the Cardiac Intensive Care Unit. Journal Of Intensive Care Medicine 2024, 8850666241243261. PMID: 38571399, DOI: 10.1177/08850666241243261.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCardiac intensive care unitNoninvasive ventilationRespiratory failureIntensive care unitContemporary cardiac intensive care unitsModality of noninvasive ventilationPatient populationAdult congenital heart diseaseCardiac intensive care unit admissionCare unitNoninvasive positive-pressure ventilationHigh-flow nasal cannulaHigh-risk patient populationUtilization of noninvasive ventilationRight ventricular dysfunctionCongenital heart diseaseManaging respiratory failureNoninvasive ventilation modalitiesRight ventricular failureInvasive mechanical ventilationSevere valvular diseasePositive pressure ventilationReducing extubation failureManagement of patientsPositive-pressure ventilationStatistical methods for assessing the effects of de novo variants on birth defects
Xie Y, Wu R, Li H, Dong W, Zhou G, Zhao H. Statistical methods for assessing the effects of de novo variants on birth defects. Human Genomics 2024, 18: 25. PMID: 38486307, PMCID: PMC10938830, DOI: 10.1186/s40246-024-00590-z.Peer-Reviewed Original ResearchConceptsDe novo variantsAnalyzed de novo variantsDevelopment of next-generation sequencing technologiesNext-generation sequencing technologiesSequencing technologiesImprove statistical powerGenetic heterogeneitySequenced samplesStatistical powerBirth defectsDiseased individualsLow occurrenceCongenital heart diseaseVariantsGenesDeleterious effectsSequenceGeneral workflowStatistical methodsImproving Palivizumab Administration to High-Risk Infants with Heart Disease via a Communication-Based Quality Improvement Initiative
Leone D, Rodriguez A, Cowenhoven K, O’Connell M, Grossman M, Ferdman D. Improving Palivizumab Administration to High-Risk Infants with Heart Disease via a Communication-Based Quality Improvement Initiative. Pediatric Cardiology 2024, 46: 287-295. PMID: 38300318, DOI: 10.1007/s00246-023-03388-3.Peer-Reviewed Original ResearchHigh-risk infantsPercentage of infantsRate of administrationPalivizumab administrationPalivizumab dosesRespiratory syncytial virus seasonHeart diseaseDose of palivizumabCongenital heart diseasePediatric cardiac patientsPalivizumab eligibilityEligible infantsPalivizumab treatmentVirus seasonPalivizumabHeart CenterCardiac patientsInfantsOxygen saturationDoseDiagnosis codesQuality improvement initiativesAdministrationBaseline rateMultidisciplinary teamComplex Congenital Heart Disease in the Adult
Goldstein S, Krasuski R. Complex Congenital Heart Disease in the Adult. Annual Review Of Medicine 2024, 75: 493-512. PMID: 38285514, DOI: 10.1146/annurev-med-050922-052324.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCongenital heart diseaseAdult congenital heart diseaseComplex congenital heart diseaseHeart diseaseSevere birth defectsStructural abnormalitiesBirth defectsComplex lesionsFrequent causeHigh riskImprove outcomesPediatric outcomesHeterogeneous groupPalliative interventionsCardiovascular systemDiseaseAdultsOutcomesComplications
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