Delays in Diagnosing Congenital Heart Disease: An Analysis of Contributing Factors in Patients Presenting to a Tertiary Care Hospital in Abbottabad, Pakistan

Congenital heart diseases represent one of the most prevalent types of congenital diseases among children, and can cause significant morbidity and mortality when not diagnosed early.1 They involve congenital malformations involving structure of heart and great blood vessels. Symptoms associated with this type of disease include cyanosis, feeding problems, inadequate growth, rapid breathing, repeated infections of the chest or heart failure.2 In some cases, symptoms can be very mild initially, with the disease going unnoticed for many years. Early diagnosis and management significantly improves outcome among patients suffering from this condition; nonetheless, delayed diagnosis remains common among developing nations.3

The diagnosis of congenital heart defects is primarily based on thorough clinical assessment, proper referrals, echocardiography, chest X-rays, and electrocardiograms.4 In many instances, it becomes challenging to make the diagnosis because early signs and symptoms may not be specific and might be attributed to other diseases such as respiratory infection and malnutrition.5 Misdiagnosis by health professionals plays a vital role in delaying the detection of the condition. Patients may be misdiagnosed with pneumonia, asthma, or sepsis several times until the cardiac issue is detected. Lack of expertise among healthcare personnel and limited access to pediatric cardiology services may delay the process of diagnosis.6

Social as well as economic variables have a very significant part to play in this regard. Individuals with low socio-economic status may experience a delay in seeking treatment at hospitals because of their financial difficulties, high medical bills, as well as high transportation charges.7 In remote locations, where there is less availability of specialized healthcare services, the travelling distance itself becomes one of the hurdles towards the early identification of the problem.8 Errors made while recording and understanding previous tests results, like that of an echocardiogram and chest radiography, can also lead to this delay in diagnosis.9

The delayed diagnosis of congenital heart disease is still considered to be one of the significant public health concerns in developing nations, which result in serious complications, multiple visits to hospitals, and death of young individuals. Local information about the underlying reasons like misdiagnosis by physicians, financial problems, transport costs, and false documentation of prior tests is scarce. Through this research, we will be able to highlight the most prevalent reasons for the delayed diagnosis of CHD.

Objective

 The objective of this study is to analyse the contributing factors responsible for delays in diagnosing congenital heart disease.

This cross-sectional study was conducted from 26 June 2025 to 26 October 2025 at the Department of Paediatrics, Ayub Teaching Hospital Abbottabad. Ethical approval for the study was obtained from the hospital ethical review committee before start of data collection with ethical certificate number Ref.No.RC-EA-2024/212. A total of 166 patients were included in the study. Sample size was calculated by using OpenEpi software while keeping 12.3% frequency of delayed diagnosis due to financial constraints,10 with 95% confidence interval and 5% margin of error.

Inclusion criteria

Patients of both genders aged up to 15 years presenting for first time with echocardiography confirmed diagnosis of congenital heart disease were included. Patients having cyanotic congenital heart disease not diagnosed within 1 week after birth and patients having acyanotic congenital heart disease not diagnosed within 3 months after birth were enrolled in the study.

Exclusion criteria

Patients having major congenital anomalies, chromosomal abnormalities, acquired heart diseases including rheumatic heart disease and post viral myocarditis were excluded from study. Patients whose parents or guardians refused interview were also excluded.

Congenital heart defect was considered as any structural defect of heart present since birth causing signs and symptoms including cyanosis, tachypnoea, poor feeding, sweating during feeding, inadequate weight gain, recurrent respiratory tract infections, finger clubbing and cardiac murmurs confirmed on echocardiography. Cyanotic congenital heart disease was defined as congenital heart defect having right-to-left shunt with oxygen saturation less than 85% on pulse oximetry associated with clinical cyanosis. Acyanotic congenital heart disease was labelled as congenital heart defect with left-to-right shunt having oxygen saturation 85% or above without clinical cyanosis.

After taking informed consent from parents or guardians, confidentiality of patients was ensured and all information was recorded on specially designed proforma. Demographic details including age, gender, weight, socioeconomic status of family, educational status of parents and residential status were noted. Detailed history was taken from parents or guardians regarding factors causing delay in diagnosis of congenital heart disease. Patients were also assessed clinically and diagnosis of congenital heart disease was confirmed through echocardiography findings. Delay in diagnosis by doctors due to failure or delayed identification of the disease in previous health visits based on past prescriptions and previous records of hospitalization was taken into consideration. Delay in diagnosis by midwifery practitioners due to non-recognition of signs and symptoms of the disease in pregnancy, delivery, and puerperium was termed as such. The delay in seeking medical attention due to financial constraints or costs incurred from transportation expenses and the lack of money was categorized under financial barriers based on structured questionnaires. Delay in referring and following up patients after their initial visit was another barrier that can affect patient outcomes. Finally, social determinants consisted of education, residence, and birthplace of the parents, whether in government or private health care facilities.

Data was analysed by using IBM SPSS version 26. Quantitative variables including age were presented as mean ± standard deviation. Qualitative variables including gender, socioeconomic status, educational level of parents, residential status and factors contributing to delayed diagnosis were expressed as frequencies and percentages. Factors contributing to delayed diagnosis were stratified with respect to age, gender, socioeconomic status, educational level of parents and residential status. Post-stratification chi-square test or Fisher exact test was applied where appropriate. A p-value of ≤0.05 was taken as statistically significant.

The study enrolled a total of 166 paediatric patients with congenital heart disease (CHD). The mean age of the patients were 6.41 ± 2.76 years, and the mean weight were recorded as 18.07 ± 7.15 kg. The average age at which diagnosis were made was 3.54 ± 2.36 years, which suggesting a notable delay between birth and formal identification of the condition. With regards to gender distribution, majority of the patients were male, accounting for 94 cases (56.6%), whereas female patients were 72 in number (43.4%). With respect to residential status, a considerable majority of the patients were from rural areas, accounting for 108 patients (65.1%), in contrast to urban residents who were 58 in number (34.9%). Regarding the type of CHD, acyanotic CHD were more prevalent, being present in 110 patients (66.3%), whereas cyanotic CHD were identified in 56 patients (33.7%) (Table 1).

Table 1. Patient Demographics

With reference to the factors which were contributing towards delayed diagnosis of CHD, financial factors were found to be the most frequently reported category, being present in 79 cases (47.6%). Among the financial sub-factors, delayed hospital visit due to financial reasons were noted in 58 cases (34.9%), high medical costs were reported in 47 cases (28.3%), and transportation expenses were identified in 28 cases (16.9%). Referral and follow-up related factors were present in 61 cases (36.7%), with delayed referral to specialised care being the most common sub-factor at 47 cases (28.3%), followed by missed follow-up appointments in 30 cases (18.1%), and wrong reporting of previous investigations in 15 cases (9.0%). Doctor-related factors were also amongst the notable contributors, wherein delayed diagnosis by doctor were recorded in 59 cases (35.5%), and wrong or missed diagnosis by doctor were noted in 44 cases (26.5%). Social factors were present in 36 cases (21.7%), and delayed diagnosis related to midwifery care were reported in 27 cases (16.3%) (Table 2).

Table 2. Frequency of Factors Contributing to Delayed Diagnosis of Congenital Heart Disease

This research was designed for determining the causes behind the delay in the diagnosis of congenital heart diseases among children. The results of this research indicated that there is a very serious delay in making the correct diagnosis because the average age of diagnosis was found to be 3.54 ± 2.36 years, which is very late when compared to the optimal time frame of early childhood. Financial factors appeared to be the most dominant cause of such delays, as they were found to be associated with 79 patients (47.6%). This result was expected because most of the patients belonged to lower socio-economic backgrounds, which comprised 82 patients (49.4%).

The mean age at diagnosis in the present study were 3.54 ± 2.36 years, which is considerably higher than what were reported by Tahiri et al. 11 where mean age at diagnosis were only 3.28 days in neonatal population, and also higher than Kumari et al. 12 who reported mean age of 2.33 ± 3.81 years. This difference was likely because the present study included older paediatric patients rather than neonates, and also because majority of the patients were from rural backgrounds (108 cases, 65.1%) with limited access to early screening facilities, which is a barrier that were similarly highlighted by Al-Shawki et al. 13 who noted that diagnostic delays ranged from 4 to 98 months in resource-limited settings.

Acyanotic CHD were the predominant type in present study, being found in 110 patients (66.3%), which is consistent with findings of Tahiri et al. 11 who reported non-cyanotic CHD in 71% of their cases, and with Iqbal et al. 14 where acyanotic lesions were accounting for 67.9%. Similarly, Memon et al. 15 also reported VSD and ASD as the most common lesions. This similarity across different studies were suggesting that acyanotic lesions are inherently more difficult to detect early because they usually lack the obvious clinical features like cyanosis, and their subtle presentations such as murmurs or mild respiratory symptoms may easily get overlooked, particularly in settings where paediatric cardiology expertise is limited.

Financial factors were identified as the most common contributor to delayed diagnosis in the present study, being present in 79 cases (47.6%), which is in agreement with Shah et al. 16 who also reported financial limitations as a significant barrier, and with Al-Shawki et al. 13 who described socioeconomic limitations as a major obstacle in low- and middle-income countries. The high proportion of patients from low socioeconomic backgrounds (82 cases, 49.4%) in the present study were directly correlating with this finding, as families with limited financial resources often delays hospital visits due to inability to bear the cost of investigations and specialist consultations, a pattern which were also observed by Kumari et al. 12 and Iqbal et al. 14 in similar Pakistani tertiary care settings.

Rural residency was noted in 108 cases (65.1%) of the present study, and this finding were comparable to Kumari et al. 12 who reported rural residence in 63.6% of their patients, and to Rochmawati et al. 17 who found that remote residence was independently predicting delayed diagnosis with odds ratio of 1.82. Ng'eno-Owino 18 similarly reported that children from unskilled parental occupations, who were more likely residing in rural areas, had five times higher odds of late diagnosis.

Doctor-related factors were found in the present study, with delayed diagnosis by doctors reported in 59 cases (35.5%) and wrong or missed diagnosis in 44 cases (26.5%). These figures were closely comparable to Iqbal et al. 14 where missed or delayed diagnosis by doctors were present in 24.6%, and to Kumari et al. 12 who reported missed diagnosis by paediatricians in 34.1% of cases. This pattern of physician-level diagnostic delays was largely attributable to the limited availability of trained paediatric cardiologists, inadequate clinical examination skills at primary care level, and overreliance on symptomatic management without appropriate cardiac investigations, which is a concern that were also raised by Dewi et al. 19 and Chaka et al. 20 in their respective studies.

Low parental educational level was a notable finding in the present study, with illiterate and primary level educated parents together accounting for 78 cases (47.0%). This were consistent with Hurisa et al. 21 who found that illiterate maternal educational status were significantly associated with delayed diagnosis with AOR of 0.103, and with Ng'eno-Owino 18 who reported that parental unskilled occupation significantly increased odds of late diagnosis. Khan et al. 22 also highlighted that lack of knowledge regarding treatment options were present in 40.1% of parents. Low educational level amongst parents is strongly associated with poor recognition of cardiac symptoms, delayed health-seeking behaviour, and inability to follow up appropriately with specialist services, all of which were contributing collectively to the overall diagnostic delay observed in the present study.

There are various limitations of the current research that should be mentioned. First of all, this was a single-center study carried out at a single hospital which can be considered a serious limitation due to the fact that the obtained results cannot be extrapolated to the general population of Pakistan. Secondly, the sample size of 166 patients was relatively small which could affect the validity of the results. Finally, it was an observational study which prevents from establishing causality between the studied variables.

This study has shown that the late diagnosis of congenital heart diseases in children is a serious and multidimensional issue. Financial problems, rural residence, and lower education level of parents are considered the major causes for this problem. Factors related to the physician include delayed and missed diagnosis of congenital heart disease by doctors.