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G162 LATE PRESENTATION OF CONGENITAL CYANOTIC HEART DISEASE

A. Peacock, S. J. Murugan, J. M. Parsons, J. L. Gibbs.Leeds General Infirmary, Leeds, UK

Background: We noted several infants presenting to our tertiary paediatric cardiac unit with delayed diagnosis of congenital cyanotic heart disease. Failure to diagnose cyanotic heart disease in neonates is likely to be associated with significant morbidity and mortality.

Aims: To analyse the presentation of infants and children with cyanotic heart disease and examine the factors associated with late presentation.

Methods: All patients with newly diagnosed cyanotic congenital heart disease presenting to our tertiary paediatric cardiac centre at Leeds over a one year period were included in the study. Data were collected retrospectively by case note review. We noted final diagnosis, age at presentation, ethnicity, antenatal diagnosis, and whether diagnosis was missed on postnatal discharge examination and at routine general practitioner examinations at 6 weeks and at 8 months.

Results: There were 69 newly diagnosed patients with cyanotic heart disease. The median age at presentation was 2 days (range 1 day to 579 days). 31% were non-whites. Fallot’s tetrology was the most common diagnosis (33%), followed by isolated transposition of great arteries (17%). 16% of patients were diagnosed antenatally; 22% presented prior to neonatal discharge examination; 26% were detected because of concerns at discharge examination. The diagnosis of cyanotic heart disease was missed in 25 patients (36%) at neonatal discharge examination. Nearly half of them were non-whites (48%). 10 children (15%) with cyanotic heart disease were not diagnosed at the 6 week examination carried out by the general practitioner. One child was also missed at the 8 month general practitioner examination and was eventually diagnosed with tetrology of Fallot’s at 19 months.

Conclusion: There is wide variation at the time of presentation. More than one third of neonates with cyanotic heart disease were missed by …

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