Critical Congenital Heart Disease Detection in the Screening Era: Do Not Neglect the Examination! - PubMed (original) (raw)
Case Reports
Critical Congenital Heart Disease Detection in the Screening Era: Do Not Neglect the Examination!
Deepika Sankaran et al. AJP Rep. 2021 Apr.
Abstract
Pulse oximetry oxygen saturation (SpO 2 )-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 SpO 2 of 99% and postductal SpO 2 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: CCHD screening; PA-VSD; congenital heart disease; critical congenital heart disease; false negative; newborn; oximetry screening; pulmonary atresia; pulse oximetry; pulse oximetry screening.
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/ ).
Conflict of interest statement
Conflict of Interest The authors have no conflict of interest to declare.
Figures
Fig. 1
Changes in the pulse oximetry saturation (A), heart rate (B), respiratory rate (C), and blood pressures (D) in the infant from birth until 60 hours after birth. The shaded area depicts the timing of SpO2based CCHD screening. BP, blood pressure; CCHD, critical congenital heart disease; SpO2, pulse oximetry oxygen saturation.
Fig. 2
Images from echocardiogram on admission to tertiary hospital. (A) Aorta valve (AoV; red arrow) overriding the interventricular septum (red asterisk): the overriding aortic valve position allows blood from both the right ventricle (RV) and the left ventricle (LV) to flow into the aorta thus creating complete mixing of oxygenated and deoxygenated blood. (B) Color flow Doppler showing a tortuous patent ductus arteriosus (PDA) (red arrow) originating off the underside of the distal aortic arch. (C) Color flow Doppler showing PDA flow (red arrow) to both the right pulmonary artery (RPA) and left pulmonary artery (LPA). (D) Short axis view showing the atretic pulmonary valve (red arrow) adjacent to the aortic valve seen en-face. (E) Four-chamber view (2D and color flow) showing an atrial septal defect. Note the septum bows right to left due to higher pressures in the right atrium (RA) with potential shunting of blood from the RA to the left atrium (LA; red arrow). 2D, two-dimensional.
Fig. 3
Chest and abdomen radiograph of the infant at 2 days after birth notable for absence of pulmonary congestion or cardiomegaly.
Fig. 4
Electrocardiogram at 5 days after birth notable for an upright T-wave on lead V1 which would be abnormal beyond 48 hours in a newborn and would indicate right ventricular strain.
Fig. 5
Approach to an asymptomatic term neonate with a cardiac murmur. An easy to follow algorithm that describes an approach to the management of an asymptomatic term neonate with a cardiac murmur. References: *Nadas, **Brockmeier et al, and Koppel et al. CCHD, critical congenital heart disease; SpO2, pulse oximetry oxygen saturation.
References
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