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Year : 2021  |  Volume : 1  |  Issue : 2  |  Page : 120-123

False negative critical congenital heart disease screening result arising from a complex cardiac disease with duct dependent systemic circulation

1 Department of Pediatric Cardiology, Mohammed Bin Khalifa Bin Sulman Al-Khalifa Cardiac Center, Bahrain Defense Forces Hospital, Riffa, Bahrain
2 Department of Pediatric Intensive Care Unit, King Hamad University Hospital, Al Sayh, Bahrain
3 Department of Pediatric Cardiology, Mohammed Bin Khalifa Bin Sulman Al-Khalifa Cardiac Center, Bahrain Defense Forces Hospital, Riffa; Department of Pediatrics, Royal College of Surgeons of Ireland, Medical University of Bahrain, Busaiteen, Bahrain

Correspondence Address:
Dr. Abhinav Agarwal
Department of Pediatric Cardiology, Mohammed Bin Khalifa Bin Salman Al-Khalifa Cardiac Center, Bahrain Defense Force Hospital, P. O. Box 28743, Riffa
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_80_21

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Background: Critical congenital heart disease (CCHD) encompasses congenital structural heart defects that cause significant morbidity and mortality in the first few weeks of life unless treated and/or require surgery or catheter intervention within the 1st year of life. Since these deteriorate acutely due to their cardiac condition, they may be misdiagnosed as septicemia or perinatal asphyxia, especially in resource-poor settings. The American Academy of Pediatrics recommends universal screening with pulse oximetry after 24 h of life by a simple screening protocol. Although specificity is high, CCHD may be missed. We present a case who screened negative became symptomatic on day 10 of life and was finally diagnosed with a CCHD. Clinical Description: A full-term baby with uneventful postnatal course and negative CCHD screening was discharged on day 2 of life. He returned on day 10 with cardiogenic shock. Echocardiography confirmed interrupted aortic arch with large ventricular septal defect (VSD), moderate-sized atrial septal defect (ASD), and a small, restrictive patent ductus arteriosus (PDA). The initial false-negative result was attributed to the presence of large VSD that leads to equalization of preductal and postductal oxygen saturations. Management: The baby was stabilized with prostaglandin infusion and ventilatory support. He underwent staged repair with end-to-end anastomosis of interrupted segment and PDA ligation in the first sitting. The postoperative course was uneventful, and the patient was discharged home at day 25 of life. He is planned for VSD and ASD repair in follow-up. Conclusion: Complex heart diseases may behave unusually due to complicated inter-related hemodynamics arising from the various lesions. Primary health-care personnel should recognize the limitations of CCHD screening protocol and learn to counsel parents accordingly.

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