Genetic Variation and Association with Post-Operative Outcomes for Neonates and Infants in the Cardiac Intensive Care Unit.

Danielle Devine, Aaron Tien, Haoting He, Tracy Baust, Rod Ghassemzadeh, Jiuann-Huey Ivy Lin

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Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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Authors and funding

6 authors.

Danielle DevineDepartment of Critical Care Medicine, School of Medicine, University of Pittsburgh, Alan Magee Scaife Hall, Suite 600, 3550 Terrace Street, Pittsburgh, PA 15213, USA.

Aaron TienDepartment of Statistics, Kenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, 1826 Wesley W. Posvar Hall, 230S Bouquet Street, Pittsburgh, PA 15260, USA.

Haoting HeDepartment of Cell Biology, School of Medicine, University of Pittsburgh, 3500 Terrace Street, Pittsburgh, PA 15261, USA.

Tracy BaustDepartment of Critical Care Medicine, School of Medicine, University of Pittsburgh, Alan Magee Scaife Hall, Suite 600, 3550 Terrace Street, Pittsburgh, PA 15213, USA.

Rod GhassemzadehDepartment of Critical Care Medicine, School of Medicine, University of Pittsburgh, Alan Magee Scaife Hall, Suite 600, 3550 Terrace Street, Pittsburgh, PA 15213, USA.ORCID 0000-0002-1618-580X

Jiuann-Huey Ivy LinDepartment of Critical Care Medicine, School of Medicine, University of Pittsburgh, Alan Magee Scaife Hall, Suite 600, 3550 Terrace Street, Pittsburgh, PA 15213, USA.ORCID 0000-0003-3029-6079

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCongenital heart defects (CHD) occur in 1% of live births, with an estimated at least 33% of affected infants having genetic defects. It has become standard to screen children with CHD for genetic findings that could aid clinical decision-making, yet modern testing yields large volumes of information without understanding clinical utility. Genome-wide studies have identified associations between large copy number variants and neurocognitive outcomes in patients with CHD. Still, little research exists on the prognostic power of screening tests such as microarrays. The goal of this study was to determine if abnormal microarray results in infants with CHD were associated with worse clinical outcomes in the cardiac intensive care unit (CICU).

methodThis was a single-center retrospective cohort study. The Society of Thoracic Surgery (STS) and Pediatric Cardiac Critical Care (PCICU) registries (PC4) were queried for all surgical admissions of neonates and infants between 1 January 2014 and 31 December 2019. Patient demographics, surgical details, and post-operative outcomes were collected for surgical admissions related to the patient's index operation. A chart review was performed to ascertain microarray results, further genetic testing, and longitudinal outcomes. Patients without microarray results or long-term institutional follow-up were excluded. Wilcoxon rank-sum and chi-square tests were used to compare outcomes defined and collected in the PC4 registry between patients with normal and abnormal microarray results. Subgroup analysis was then performed using the same outcome measures to compare normal and abnormal microarray groups in children who required cardiac surgeries within 30 days of life and in children who presented with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), aortic stenosis (AS), or Tetralogy of Fallot (TOF).

resultsOf the 412 infants with surgical admissions to the CICU between 2014 and 2019, 43 infants had no longitudinal follow-up, and 65 infants had no microarray results. Three hundred and four infants were included in this study, of which 196 children had normal microarrays and 108 infants had abnormal microarrays. Both groups had similar distributions of gestational age and birth weight, but fundamental diagnoses and primary procedures differed significantly between groups (

conclusionsOur data indicate that microarray results have limited value in predicting immediate post-operative outcomes, but children with copy number variants should be included in future CHD research.

Indexed as

Genetic VariationHeart Defects, CongenitalCardiac Surgical ProceduresDNA Copy Number VariationsFemaleGenetic TestingHumansInfantInfant, NewbornMaleRetrospective Studiescopy number variantsmicroarrayoutcomespediatric cardiac critical care

Identifiers

PMID42650102

DOI10.3390/genes17080910

PMCPMC13511873

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