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

Murni I.K., Wirawan M.T., Patmasari L., Sativa E.R., Arafuri N., Nugroho S., Noormanto

Department of Child Health, Dr. Sardjito Hospital / Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Jalan Kesehatan No 1, Sekip, Yogyakarta, 55281, Indonesia


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. © 2021, The Author(s). Children; Congenital heart disease; Delayed diagnosis; Indonesia


BMC Pediatrics

Publisher: BioMed Central Ltd

Volume 21, Issue 1, Art No 191, Page – , Page Count

Journal Link:

doi: 10.1186/s12887-021-02667-3

Issn: 14712431

Type: All Open Access, Gold, Green


van der Linde, D., Konings, E.E., Slager, M.A., Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis (2011) J Am Coll Cardiol, 58 (21), pp. 2241-2247; Indonesia Demographic and Health Survey 2017 Jakarta, Indonesia: BKKBN, BPS, Kemenkes, and ICF 2018 2018., ,, Accessed 10 Mar 2020; Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017 (2020) Lancet Child Adolesc Health, 4, pp. 185-200; Iyer, P.U., Moreno, G.E., Caneo, L.F., Management of late presentation congenital heart disease (2017) Cardiol Young, 27 (S6), pp. 31-39; Brown, K.L., Ridout, D.A., Hoskote, A., Verhulst, L., Ricci, M., Bull, C., Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates (2006) Heart., 92 (9), pp. 1298-1302; Pframmatter, J.P., Stocker, F.P., Delayed recognition of haemodynamically relevant congenital heart disease (2001) Eur J Pediatr, 160 (4), pp. 231-234; Massin, M.M., Dessy, H., Delayed recognition of congenital heart disease (2006) Postgrad Med J, 82 (969), pp. 468-470; Peterson, C., Ailes, E., Riehle-Colarusso, T., Oster, M.E., Olney, R.S., Cassell, C.H., Fixler, D.E., Gilboa, S.M., Late detection of critical congenital heart disease among US infants (2014) JAMA Pediatr, 168 (4), pp. 361-370; Rashid, U., Qureshi, A., Hyder, S., Pattern of congenital heart disease in a developing country tertiary care center: Factors associated with delayed diagnosis (2016) Ann Pediatr Cardiol, 9, pp. 210-215; Saxena, A., Relan, J., Agarwal, R., Awasthy, N., Azad, S., Chakrabarty, M., Dagar, K.S., Vijaykumar, R., Indian guidelines for indications and timing of intervention for common congenital heart diseases: revised and updated consensus statement of the working group on management of congenital heart diseases (2019) Ann Pediatr Cardiol, 12 (3), pp. 254-286; Keuffer, A., Pfammatter, J., Timely diagnosis of congenital heart disease – did we improve? (2015) Cardiovasc Med, 18 (10), pp. 282-284; Renno, M., Johns, J., Cyanotic Congenital Heart Disease (2018) Encyclopedia of Cardiovascular Research and Medicine, pp. 730-747. , Sawyer D, Vasan R, (eds), 1, Elsevier, Philadelphia; Park, M.K., (2014) Park’s Pediatric Cardiology for Practitioner, pp. 137-138. , 6, Elsevier, Philadelphia; Peterson, C., Dawson, A., Grosses, S.D., Hospitalizations, costs, and mortality among infants with critical congenital heart disease: how important is timely detection? (2013) Birth Defects Res A Clin Mol Teratol, 97 (10), pp. 664-672; Diller, C., Kelleman, M., Kupke, K., A Modified Algorithm for Critical Congenital Heart Disease Screening Using Pulse Oximetry (2018) Pediatrics, 141; Plana, M.N., Zamora, J., Suresh, G., Fernandez-Pineda, L., Thangaratinam, S., Ewer, A.K., Pulse oximetry screening for critical congenital heart defects (2018) Cochrane Database Syst Rev, 3; Thangaratinam, S., Brown, K., Zamora, J., Khan, K.S., Ewer, A.K., Pulse oximetry screening for critical heart disease in asymptomatic newborn babies: a systematic review and meta-analysis (2012) Lancet, 379 (9835), pp. 2459-2464; Murni, I.K., Musa, N.L., The need for specialized pediatric cardiac critical care training program in limited resource setting (2018) Front Pediatr, 6, p. 59; Mocumbi, A., Lameira, E., Yaksh, A., Challenges on the management of congenital heart disease in developing countries (2011) Int J Cardiol, 148 (3), pp. 285-288; Guccione, P., Ioria, F.S., Rebonato, M., Profiles of the heart failure in adolescent and young adults with congenital heart disease (2018) Prog Pediatr Cardiol, 51, pp. 37-3; Burstein, D.S., Shamszad, P., Dai, D., Almond, C.S., Price, J.F., Lin, K.Y., O’Connor, M.J., Rossano, J.W., Significant mortality, morbidity and resource utilization associated with advanced heart failure in congenital heart disease in children and young adults (2019) Am Heart J, 209, pp. 9-19; Naidu, P., Grigg, L., Zentner, D., Mortality in adults with congenital heart disease (2017) Int J Cardiol, 245, pp. 125-130; Roth, T.S., Aboulhosn, J.A., Pulmonary hypertension and congenital heart disease (2016) Cardiol Clin, 34 (3), pp. 391-400; Murni, I.K., Djer, M.M., Yanuarso, P.B., Putra, S.T., Advani, N., Rachmat, J., Perdana, A., Sukardi, R., Outcome of pediatric cardiac surgery and predictors of major complications in a developing country (2018) Ann Pediatr Cardiol, 12 (1), pp. 38-44

Indexed by Scopus

Leave a Comment