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G162(P) Screening tests with flaws: Missed opportunities for detecting cyanotic heart disease
  1. CG Snook1,
  2. TSB Williams2,
  3. B Tsai-Goodman1
  1. 1Cardiology, University Hospitals Bristol NHS Trust, Bristol, UK
  2. 2Medicine, University of Bristol, Bristol, UK


Background Transposition of great arteries (TGA) accounts for approximately 3–5% of congenital heart disease postnatally. The majority of cases present within 30 days of life with severe cyanosis and, if left untreated, is associated with significant morbidity and mortality. Screening for congenital heart disease has been introduced antenatally as well as postnatally and forms part of the 20 weeks anomaly scan. Postnatal screening occurs during first day baby check and at the 8-week GP check; however, both screening tests rely purely on clinical examination. A recent study has shown that the use of pulse oximetry on newborns within 24 h of birth had a specificity of 99.2% and sensitivity of 75% for detecting critical CHD and 49% for major CHD (1). Using pulse oximetry could therefore improve postnatal detection of cyanotic heart disease as central cyanosis, unless severe, can be easily missed.

Case We present a case of an 8 week old infant who presented through the emergency Department with Transposition of the Great Arteries having been pale and grey since birth. However, despite several reviews from health professionals and a murmur found at 8 weeks, central cyanosis was not recognised during any of those encounters. The patient subsequently underwent an arterial switch procedure which was complicated by poor left ventricular function as a result of de-conditioning because of his late presentation. He required extra corporeal life support (ECLS) for 5 days before his function slowly improved.

Conclusion This child’s diagnosis of TGA was missed on three occasions during routine screening and pulse oximetry would have been helpful in making an earlier diagnosis. This case highlights the need for additional diagnostic tool such as a pulse oximetry to be a part of postnatal screening for cyanotic heart disease. Mild or moderate central cyanosis due to congenital heart disease can be easily missed during clinical examination. This can be associated with significant morbidity and mortality for the child which could be prevented.


  1. Ewer et al. Birmingham PulseOX study 2011

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