Featured Publications
Familial 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 aggregationNoonan 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
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