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Lessons Learned from Infants with Late Detection of Critical Congenital Heart Disease

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Abstract

Late detection of critical congenital heart disease (CCHD) is multifactorial and ill defined. We investigated the results of pulse oximetry screening (POS) and points in the care chain that contribute to delayed detection of CCHD. The medical records of 13 infants with delayed detection at a single pediatric cardiac center between 2013 and 2016 were identified and reviewed. Left heart obstructive lesions were the most common diagnosis (n = 8; 62%) and included coarctation of the aorta (n = 6), interrupted aortic arch with ventricular septal defect (n = 1), and critical aortic stenosis (n = 1). Tetralogy of Fallot (TOF) (n = 2), truncus arteriosus (n = 1), pulmonary atresia with ventricular septal defect (n = 1), and total anomalous pulmonary venous drainage (n = 1) made up the remainder of the conditions. Routine prenatal care was reported in most infants (10/13). Infants with late detection had either a true negative POS (10/13 infants) or no POS performed (3/13 infants). At the time of detection, 5/6 (83%) infants with coarctation had normal pulse oximetry values, whereas 6/7 (86%) infants with other CCHD developed abnormal pulse oximetry values. At diagnosis, 11/13 (85%) infants had significant signs or symptoms of clinical deterioration; only 2 infants were completely asymptomatic. Late detection of CCHD is uncommon and multifactorial. Eliminating late detection is dependent upon improving detection on screening obstetrical ultrasounds, enforcement of universal POS, and attention to the neonatal physical exam.

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Abbreviations

CCHD:

Critical congenital heart disease

POS:

Pulse oximetry screening

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Acknowledgements

We wish to acknowledge Lindsay Attaway for her work with the Children’s National Heart Institute’s Pulse Oximetry Screening program. We also wish to acknowledge the C.R. Beyda Professorship for their funding of this project.

Funding

C.R. Beyda Professorship.

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Authors and Affiliations

  1. Division of Cardiology and The Children’s National Heart Institute, Children’s National Hospital, 111 Michigan Avenue, N.W., Washington, D.C., 20010, USA

    Gerard R. Martin, Bryanna N. Schwartz, Lisa A. Hom & Mary T. Donofrio

  2. The George Washington School of Medicine, Washington, D.C., USA

    Gerard R. Martin, Bryanna N. Schwartz, Lisa A. Hom & Mary T. Donofrio

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  1. Gerard R. Martin
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  2. Bryanna N. Schwartz
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Contributions

GRM conceptualized the study and data instruments, coordinated data collection and analysis, drafted the initial framework for the manuscript, and coordinated revisions. BNS and LAH provided input on the study conceptualization, assisted with data collection and analysis, and critically reviewed and revised the manuscript. MTD provided input on the study conceptualization, assisted with data analysis, drafted key sections of the manuscript, and provided critical revisions. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

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Correspondence to Gerard R. Martin.

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Martin, G.R., Schwartz, B.N., Hom, L.A. et al. Lessons Learned from Infants with Late Detection of Critical Congenital Heart Disease. Pediatr Cardiol 43, 580–585 (2022). https://doi.org/10.1007/s00246-021-02760-5

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  • DOI: https://doi.org/10.1007/s00246-021-02760-5

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