Annals of Pediatric Cardiology
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Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country

 Department of Pediatrics, Ministry of Health, Hospital Sultanah Aminah, Johor Bahru, Malaysia

Correspondence Address:
Mohd Nizam Mat Bah,
Department of Pediatrics, Ministry of Health, Hospital Sultanah Aminah, Jalan Persiaran Abu Bakar Sultan, 80100 Johor Bahru
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/apc.APC_35_20

Aims : There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD. Setting and Design : Retrospective observational cohort study in the State of Johor, Malaysia. Subjects and Methods : All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age. Results : Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16–1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD. Conclusions : Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

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