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CC BY-NC-ND 4.0 · AJP Rep 2021; 11(02): e84-e90
DOI: 10.1055/s-0041-1727275
Case Report

Critical Congenital Heart Disease Detection in the Screening Era: Do Not Neglect the Examination!

Deepika Sankaran 
1   Division of Neonatology, Department of Pediatrics, University of California, Davis, Sacramento, California
,
Heather Siefkes
2   Division of Pediatric Critical Care Medicine, Department of Pediatrics, University of California, Davis, Sacramento, California
,
Frank F. Ing
3   Division of Pediatric Cardiology, Department of Pediatrics, University of California, Davis, Sacramento, California
,
Satyan Lakshminrusimha 
1   Division of Neonatology, Department of Pediatrics, University of California, Davis, Sacramento, California
,
Francis R. Poulain
1   Division of Neonatology, Department of Pediatrics, University of California, Davis, Sacramento, California
› Author Affiliations
Funding D.S.'s effort was supported by the Children's Miracle Network research grant at University of California Davis, Child Health Research Grant from University of California Davis Pediatrics and First Tech Federal Credit Union, and Neonatal Resuscitation Program Research Grant from Canadian Pediatric Society.H.S.'s effort was supported by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH; through grant UL1 TR001860 and linked award KL2 TR001859), and by Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD; 1R21 1HD099239–01). The funding agencies had no role in the design of this manuscript.S.L.'s effort was supported by NICHD: 5 R01 HD072929 09.
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Abstract

Pulse oximetry oxygen saturation (SpO2)-based critical congenital heart disease (CCHD) screening is effective in detection of cyanotic heart lesions. We report a full-term male infant with normal perfusion who had passed the CCHD screening at approximately 24 hours after birth with preductal SpO2 of 99% and postductal SpO2 of 97%. Detection of a loud systolic cardiac murmur before discharge led to the diagnosis of pulmonary atresia (PA) with ventricular septal defect (PA-VSD) by echocardiogram. The infant was transferred to a tertiary care center after initiation of prostaglandin E1 (PGE1) therapy. Throughout the initial course, he was breathing comfortably without respiratory distress or desaturations on pulse oximetry. We believe that this is the first documented report of PA missed by CCHD screening. Thorough and serial clinical examinations of the newborn infant proved vital in the timely diagnosis of this critical disease. We review the hemodynamics and the recent literature evaluating utility of CCHD screening in the diagnosis of PA-VSD. Pulse oximetry–based CCHD screening should be considered a tool to enhance CCHD detection with an emphasis on detailed serial physical examinations in newborn infants.

Keywords

newborn - congenital heart disease - pulse oximetry - CCHD screening - pulmonary atresia - PA-VSD - oximetry screening - false negative - pulse oximetry screening - critical congenital heart disease

Authors' Contributions

D.S., F.R.P., H.S., F.F.I., and S.L. made substantial contributions to conception, design, and drafting of the manuscript. All the authors have critically revised and approved the final version of the manuscript. All authors agree to be accountable for all aspects of the work.




Publication History

Received: 04 December 2020

Accepted: 05 February 2021

Article published online:
16 June 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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