2025
Advanced tissue-engineered pulsatile conduit using human induced pluripotent stem cell-derived cardiomyocytes
Luo H, Anderson C, Li X, Lu Y, Hoareau M, Xing Q, Fooladi S, Liu Y, Xu Z, Park J, Fallon M, Thomas J, Gruber P, Elder R, Mak M, Riaz M, Campbell S, Qyang Y. Advanced tissue-engineered pulsatile conduit using human induced pluripotent stem cell-derived cardiomyocytes. Acta Biomaterialia 2025 PMID: 40582540, DOI: 10.1016/j.actbio.2025.06.055.Peer-Reviewed Original ResearchSingle ventricle congenital heart defectsHuman induced pluripotent stem cell-derived cardiomyocytesPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesCell-derived cardiomyocytesCongenital heart defectsHuman umbilical arteryUmbilical arteryHeart defectsPulmonary circulationDecellularized human umbilical arteriesHeart tissueLife-threatening defectsLife-threatening disorderLong-term complicationsEngineered Heart TissueFontan surgeryFunctioning ventriclePrompt treatmentHeart failureSpontaneous beatingPump functionImprove outcomesPressure generationConventional treatment
2024
Fully biologic endothelialized-tissue-engineered vascular conduits provide antithrombotic function and graft patency
Park J, Riaz M, Qin L, Zhang W, Batty L, Fooladi S, Kural M, Li X, Luo H, Xu Z, Wang J, Banno K, Gu S, Yuan Y, Anderson C, Ellis M, Zhou J, Luo J, Shi X, Shin J, Liu Y, Lee S, Yoder M, Elder R, Mak M, Thorn S, Sinusas A, Gruber P, Hwa J, Tellides G, Niklason L, Qyang Y. Fully biologic endothelialized-tissue-engineered vascular conduits provide antithrombotic function and graft patency. Cell Stem Cell 2024, 32: 137-143.e6. PMID: 39644899, PMCID: PMC11698629, DOI: 10.1016/j.stem.2024.11.006.Peer-Reviewed Original ResearchTissue-engineered vascular conduitsSingle-ventricle congenital heart defectsEndothelial cellsBiodegradable polymeric scaffoldsGraft patencyAutologous bone marrow cellsAntithrombotic functionCongenital heart defectsInferior vena cava graftHiPSC-derived endothelial cellsBone marrow cellsHuman umbilical arteryDecellularized human umbilical arteriesPolymeric scaffoldsHost endothelial cellsHuman induced pluripotent stem cell (hiPSC)-derived endothelial cellsUmbilical arteryHeart defectsVascular conduitsMarrow cellsFlow bioreactorVena cava graftNude ratsGraft stenosisClinical trialsHigh-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 markersRing Chromosome 9
Szekely A, Li P. Ring Chromosome 9. 2024, 159-169. DOI: 10.1007/978-3-031-47530-6_13.Peer-Reviewed Original ResearchRing chromosome 9Fluorescence in situ hybridizationChromosomal microarray analysisGenomic imbalancesStructural chromosomal abnormalitiesGene contentGenome sequenceChromosome 9Congenital heart defectsTermination of pregnancyOccurring de novoAdult male patientsMicroarray analysisDynamic mosaicGenetic counselingSevere growth retardationHeart defectsGenital anomaliesChromosomal abnormalitiesRespiratory complicationsMale patientsPrenatal diagnosisCardiac arrestGrowth retardationPatientsStromal Cell-SLIT3/Cardiomyocyte-ROBO1 Axis Regulates Pressure Overload-Induced Cardiac Hypertrophy
Liu X, Li B, Wang S, Zhang E, Schultz M, Touma M, Da Rocha A, Evans S, Eichmann A, Herron T, Chen R, Xiong D, Jaworski A, Weiss S, Si M. Stromal Cell-SLIT3/Cardiomyocyte-ROBO1 Axis Regulates Pressure Overload-Induced Cardiac Hypertrophy. Circulation Research 2024, 134: 913-930. PMID: 38414132, PMCID: PMC10977056, DOI: 10.1161/circresaha.122.321292.Peer-Reviewed Original ResearchConceptsTransverse aortic constrictionAortic constrictionPressure overloadCardiomyocyte hypertrophyVascular mural cellsCardiomyocyte hypertrophy in vitroDecreased left ventricular hypertrophyStimulate cardiomyocyte hypertrophyCongenital heart defectsCell-specific knockoutLeft ventricular functionAdverse cardiac remodelingVentricular pressure overloadCardiomyocyte-specific deletionMural cellsHypertrophy in vitroPressure overload stressCardiac stromal cellsMyocardial tissue samplesEffects in vitroIn vitro studiesHypertrophy-related genesHeart defectsRegulate cardiac developmentVentricular functionThe American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect
St Louis J, Bhat A, Carey J, Lin A, Mann P, Smith L, Wilfond B, Kosiv K, Sorabella R, Alsoufi B. The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect. Journal Of Thoracic And Cardiovascular Surgery 2024, 167: 1519-1532. PMID: 38284966, DOI: 10.1016/j.jtcvs.2023.11.054.Peer-Reviewed Original ResearchCongenital heart defectsTrisomy 18Trisomy 13Heart defectsCongenital heart defect careAmerican Association for Thoracic SurgeryPresence of trisomyExpert multidisciplinary groupExpert consensus documentCardiac surgerySurgical repairThoracic surgerySurgical interventionSurgical decisionTrisomyClinical decision makingHeart diseaseConsensus documentModified Delphi processModerate benefitSurgeryCare of childrenMultidisciplinary groupSuboptimal careClass IIa
2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Crotti L, Spazzolini C, Nyegaard M, Overgaard M, Kotta M, Dagradi F, Sala L, Aiba T, Ayers M, Baban A, Barc J, Beach C, Behr E, Bos J, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge S, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen H, Kannankeril P, Kaski J, Makita N, Muñoz-Esparza C, Odland H, Ohno S, Papagiannis J, Porretta A, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert K, Vinocur J, Webster G, Wilde A, Wolf C, Ackerman M, Schwartz P. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. European Heart Journal 2023, 44: 3357-3370. PMID: 37528649, PMCID: PMC10499544, DOI: 10.1093/eurheartj/ehad418.Peer-Reviewed Original ResearchConceptsClinical presentationPrimary neurological manifestationsCardiac structural abnormalitiesLife-threatening arrhythmia syndromesArrhythmic event rateAbsence of symptomsLife-threatening arrhythmiasSodium channel blockersCongenital heart defectsAntiadrenergic interventionsCardiac eventsHeart failureNeurological manifestationsUnderlying molecular mechanismsDefinitive recommendationsClinical severityChannel blockersObservational studySudden deathIndex caseArrhythmia syndromesHeart defectsPrevalent phenotypeStructural abnormalitiesCurrent managementEighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh M, Kaymakcalan H, Valilou S, Şahin Y. Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. American Journal Of Medical Genetics Part A 2023, 191: 1465-1469. PMID: 36757286, DOI: 10.1002/ajmg.a.63146.Peer-Reviewed Original ResearchConceptsExome sequencingPathogenic variantsCo-segregation studiesE3 ubiquitin protein ligaseUbiquitin-protein ligaseSplice site variantIn silico algorithmsBiallelic pathogenic variantsSite variantsUBR7Co-segregationSanger sequencingAutosomal recessive disorderBioinformatics prediction analysisDysmorphic featuresVariation c.Turkish familyHeterozygous statePathogenic effectsRecessive disorderCongenital heart defectsVariantsSequenceHeart defectsGenital anomalies
2022
Heart Function and Ventricular Recovery After Percutaneous Closure of Perimembranous Ventricular Septal Defect in Children: A Cross-sectional Study
Amoozgar H, Abdollahi A, Edraki M, Mehdizadegan N, Mohammadi H, Ajami G, Naghshzan A, Abdollahi M. Heart Function and Ventricular Recovery After Percutaneous Closure of Perimembranous Ventricular Septal Defect in Children: A Cross-sectional Study. Iranian Journal Of Pediatrics 2022, 32 DOI: 10.5812/ijp-117730.Peer-Reviewed Original ResearchPerimembranous ventricular septal defectClosure of perimembranous ventricular septal defectsVentricular septal defectPercutaneous closure of perimembranous ventricular septal defectsVSD closureLeft ventricular internal diameterSeptal defectZ-scoreFollow-upTranscatheter closure of perimembranous ventricular septal defectVentricular septal defect sizeVentricular recoveryDuration of follow-upLeft ventricular posterior wallPercutaneous VSD closureFollow-up echocardiographyCongenital heart defectsInterventricular septal diameterLeft ventricular dilatationMidterm follow-upM-mode echocardiographyCross-sectional studyEchocardiographic parametersHeart defectsTissue DopplerFamilial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study
Tortigue M, Nield LE, Karakachoff M, McLeod CJ, Belli E, Babu-Narayan SV, Prigent S, Boet A, Conway M, Elder RW, Ladouceur M, Khairy P, Kowalik E, Kalfa DM, Barron DJ, Mussa S, Hiippala A, Temple J, Abadir S, Le Gloan L, Lachaud M, Sanatani S, Thambo JB, Gronier CG, Amedro P, Vaksmann G, Charbonneau A, Koutbi L, Ovaert C, Houeijeh A, Combes N, Maury P, Duthoit G, Hiel B, Erickson CC, Bonnet C, Van Hare GF, Dina C, Karsenty C, Fournier E, Le Bloa M, Pass RH, Liberman L, Happonen JM, Perry JC, Romefort B, Benbrik N, Hauet Q, Fraisse A, Gatzoulis MA, Abrams DJ, Dubin AM, Ho SY, Redon R, Bacha EA, Schott JJ, Baruteau AE. Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study. Circulation Genomic And Precision Medicine 2022, 15: e003464. PMID: 35549293, DOI: 10.1161/circgen.121.003464.Peer-Reviewed Original ResearchConceptsPrimary ciliary dyskinesiaGreat arteriesCongenital heart defectsCiliary dyskinesiaRecurrence patternsFamilial clustersHeart defectsRetrospective cohort studyCommon pathogenetic pathwayCongenitally Corrected TranspositionFirst-degree relativesLaterality defectsCohort studyAtrioventricular blockTertiary hospitalHeterotaxy syndromeCorrected TranspositionPathogenetic pathwaysUnknown causeCcTGARare diseaseArteryParental consanguinityDyskinesiaFamilial aggregationImpact of prenatally diagnosed congenital heart defects on outcomes and management
Wong J, Kohari K, Bahtiyar MO, Copel J. Impact of prenatally diagnosed congenital heart defects on outcomes and management. Journal Of Clinical Ultrasound 2022, 50: 646-654. PMID: 35543387, DOI: 10.1002/jcu.23219.Peer-Reviewed Original ResearchConceptsCongenital heart defectsComplex congenital heart defectEarly fetal echocardiographyImproved survival ratesPrenatal detection rateGood psychosocial supportFetal echocardiogramFetal echocardiographyPatient educationCardiology specialistsHigh riskHeart defectsSurvival rateCongenital heartPsychosocial supportEarly detectionPrenatal identificationPrenatal detectionDelivery planningDetection rateUltrasound technologyImportant contributorEchocardiogramEchocardiographyNeonatesNoonan syndrome and pregnancy outcomes
Chow CA, Campbell KH, Chou JC, Elder RW. Noonan syndrome and pregnancy outcomes. Cardiology In The Young 2022, 32: 1925-1929. PMID: 35034678, DOI: 10.1017/s104795112100514x.Peer-Reviewed Original ResearchConceptsNoonan syndromeCaesarean sectionHeart defectsLow-risk cardiac lesionsNeonatal intensive care unitIntra-uterine fetal demiseYale-New Haven HospitalMaternal cardiac diseaseMaternal cardiac dysfunctionSafety of pregnancyPulmonary valve stenosisLong-term morbidityRetrospective chart reviewTrial of laborIntensive care unitInterventricular septal thicknessPre-term birthTime of pregnancyAtrial septal defectStructural heart defectsMajority of mothersCongenital heart defectsWeeks of ageMaternal complicationsPregnancy details
2021
The Association of Fetal Congenital Cardiac Defects and Placental Vascular Malperfusion
Ozcan T, Kikano S, Plummer S, Strainic J, Ravishankar S. The Association of Fetal Congenital Cardiac Defects and Placental Vascular Malperfusion. Pediatric And Developmental Pathology 2021, 24: 187-192. PMID: 33491545, DOI: 10.1177/1093526620986497.Peer-Reviewed Original ResearchConceptsFetal congenital heart defectsFetal vascular malperfusionCongenital heart defectsPlacental perfusion defectsMaternal risk factorsRisk factorsVascular malperfusionCompared to controlsVentricle morphologyGroup 2Group 1Congenital heart defect groupsCongenital heart defect casesPlacental vascular malperfusionCongenital cardiac defectsSingle right ventricleMaternal malperfusionSingleton pregnanciesPlacental disordersCardiac defectsHeart defectsCongenital anomaliesRight ventriclePerfusion defectsGreat vessels
2018
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
Nielsen J, Thorolfsdottir R, Fritsche L, Zhou W, Skov M, Graham S, Herron T, McCarthy S, Schmidt E, Sveinbjornsson G, Surakka I, Mathis M, Yamazaki M, Crawford R, Gabrielsen M, Skogholt A, Holmen O, Lin M, Wolford B, Dey R, Dalen H, Sulem P, Chung J, Backman J, Arnar D, Thorsteinsdottir U, Baras A, O’Dushlaine C, Holst A, Wen X, Hornsby W, Dewey F, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang H, Holm H, Kitzman J, Shavit J, Jalife J, Brummett C, Teslovich T, Carey D, Gudbjartsson D, Stefansson K, Abecasis G, Hveem K, Willer C. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. Nature Genetics 2018, 50: 1234-1239. PMID: 30061737, PMCID: PMC6530775, DOI: 10.1038/s41588-018-0171-3.Peer-Reviewed Original ResearchConceptsNear genesRisk variantsGenome-wide association studiesFunctional candidate genesIndependent risk variantsIdentified risk variantsFunctional enrichment analysisDeleterious mutationsAssociation studiesCandidate genesAtrial fibrillationGenetic variationGenomic discoveriesStriated muscle functionEnrichment analysisNKX2-5Fetal heart developmentResponse to stressGenesCardiac structural remodelingAtrial fibrillation casesHeart developmentHeart defectsAdult heartCardiac arrhythmias
2017
Evaluation of a Screening Program to Detect Critical Congenital Heart Defects in Newborns
Klausner R, Shapiro ED, Elder RW, Colson E, Loyal J. Evaluation of a Screening Program to Detect Critical Congenital Heart Defects in Newborns. Hospital Pediatrics 2017, 7: 214-218. PMID: 28250095, PMCID: PMC5924700, DOI: 10.1542/hpeds.2016-0176.Peer-Reviewed Original ResearchConceptsCritical congenital heart defectsPulse oximetryScreening programFalse-negative screening resultsMajority of infantsHospital health systemHealth System hospitalsCritical congenital heartYears of ageCongenital heart defectsCardiac lesionsPrenatal ultrasoundClinical concernHeart defectsCongenital heartEarly identificationSystem hospitalsInfantsNewbornsMost childrenEchocardiogramHealth systemLesionsScreening resultsAge intervals
2015
Ambient air pollution and congenital heart defects in Lanzhou, China
Jin L, Qiu J, Zhang Y, Qiu W, He X, Wang Y, Sun Q, Li M, Zhao N, Cui H, Liu S, Tang Z, Chen Y, Yue L, Da Z, Xu X, Huang H, Liu Q, Bell ML, Zhang Y. Ambient air pollution and congenital heart defects in Lanzhou, China. Environmental Research Letters 2015, 10: 074005. PMID: 31555342, PMCID: PMC6760856, DOI: 10.1088/1748-9326/10/7/074005.Peer-Reviewed Original ResearchPatent ductus arteriosusEntire pregnancyCongenital heart defectsMaternal exposureCongenital malformationsHeart defectsCongenital heartFolic acid intakeSingleton live birthsTherapeutic drug usePositive associationAmbient air pollutionDuctus arteriosusSeason of conceptionGreat arteriesSignificant positive associationAcid intakeMaternal ageHealth burdenLive birthsCardiac septumTrimesterDrug usePregnancyLogistic regressionNovel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations
Chao C, McKnight K, Cox K, Chang A, Kim S, Feldman B. Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations. PLOS ONE 2015, 10: e0118449. PMID: 25706805, PMCID: PMC4338276, DOI: 10.1371/journal.pone.0118449.Peer-Reviewed Original ResearchConceptsPancreatic agenesisNeonatal diabetesDe novo heterozygous mutationIntrauterine growth restrictionPermanent neonatal diabetesCongenital heart malformationsEnzyme replacement therapyMinor heart defectsWhole-exome sequencingNormal blood glucose levelsPancreatic enzyme insufficiencyHigh-throughput sequencing methodsIn vitro functional analysisGATA6 mutationsPremature stop codonGrowth restrictionHeart defectsBlood glucose levelsHeart malformationsHeterozygous mutationsReplacement therapyGATA6 geneClinical historyHuman pancreas developmentAgenesisCombined percutaneous treatment of structural and congenital heart defects
Chamié F, Chamié D, do Nascimento Simões L, Mattos R. Combined percutaneous treatment of structural and congenital heart defects. Journal Of Transcatheter Interventions 2015, 23: 61-65. DOI: 10.1016/j.rbciev.2015.01.005.Peer-Reviewed Original ResearchPatent foramen ovaleSeptal defectOstium secundum atrial septal defectPulmonary valve stenosisCongenital heart defectsVentricular septal defectPatent ductus arteriosusAtrial septal defectLeft atrial appendageAortic coarctationResultsTen patientsAortopulmonary fistulaDuctus arteriosusHeart defectsValve stenosisTherapeutic optionsAtrial appendageCongenital defectsPercutaneous treatmentFollow-upForamen ovaleSpecialized centersConclusionsThe small numberCombined proceduresAged 1
2009
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end
2007
Prevalence of Congenital Heart Defects in Monochorionic/Diamniotic Twin Gestations
Bahtiyar MO, Dulay AT, Weeks BP, Friedman AH, Copel JA. Prevalence of Congenital Heart Defects in Monochorionic/Diamniotic Twin Gestations. Journal Of Ultrasound In Medicine 2007, 26: 1491-1498. PMID: 17957043, DOI: 10.7863/jum.2007.26.11.1491.Peer-Reviewed Original ResearchConceptsTwin-twin transfusion syndromeDiamniotic twin gestationsTwin gestationsVentricular septal defectSeptal defectPulmonary stenosisTwin pregnanciesRisk factorsRelative riskHeart defectsCongenital heartFrequent heart defectsConfidence intervalsAtrial septal defectMedical Subject Headings termsCongenital heart defectsRandom-effects modelSubject Headings termsCHD prevalenceTransfusion syndromeAbnormal placentationFetal echocardiographyObservational studyGestationSystematic review
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