Delayed diagnosis in children with congenital heart disease: a mixed-method study

Background Delayed diagnosis of congenital heart disease (CHD) causes significant morbidity and mortality. We aimed to determine the proportion of delayed diagnosis of CHD and factors related to the delayed diagnosis. Methods A prospective cohort study with mixed-methods was conducted in Dr. Sardjito Hospital, Yogyakarta, Indonesia. Patients aged < 18 years with newly diagnosed CHD and echocardiography confirmed CHD were included. Data were recorded from medical records and interviews from direct caregivers. Logistic regression was used to identify independent factors associated with the delay. Results A total of 838 patients were included with median age of 2.9 years (0–17.7 years), with female predominance (54.2%, n = 454). The proportions of delayed diagnosis were 60.8% (510), 54.9% (373) and 86.2% (137) in all children with CHD, acyanotic and cyanotic CHD, respectively. Delayed diagnosis by doctor was the most common cause, followed by delayed diagnosis related to midwifery care, financial, referral/follow-up, and social factors. In multivariate analysis, cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independently associated with the delay. At diagnosis, heart failure and pulmonary hypertension occurred in 414 (49.4%) and 132 (15.8%) children with CHD, respectively. Conclusions Six in ten children with CHD were diagnosed with significant delay. Delayed diagnosis by doctor was the most common cause. Children with cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independently associated with the delay. Comorbid complications in delayed diagnosis of CHD were prevalent.