European Journal of Cardiovascular Medicine

One of the most prevalent congenital malformations is congenital heart disease (CHD). [1]. Significant morbidity and death are caused by delayed identification of congenital heart disease (CHD). [2]

The most prevalent congenital abnormality in the world is congenital heart disease (CHD).  About one out of every 100 kids is born with congenital heart disease (CHD), and one out of every four is born with catastrophic CHD.  The yearly death rate from congenital heart disease has decreased worldwide.  Even though children with CHD have a higher chance of survival and a higher quality of life, heart disorders continue to be a serious global health concern. [3]. According to recent studies, the prevalence of congenital heart disease (CHD) in India has climbed to 8.5–13.6 per 1000 children. [4]. In India, CHD contributes significantly to infant mortality (10%)[5]. Cognitive impairments and developmental delay are two prevalent morbidities in children with congenital heart disease (20–30%). [6]. If identified early and the proper medical/surgical intervention is implemented, a sizable percentage of infants born with congenital heart disease may go on to enjoy normal, productive lives. [7]. A proper diagnosis of congenital heart disease (CHD) is made when the patient does not require emergency care at the time of diagnosis, when therapy is not associated with significant risk, when alternative management is not required, or when early treatment improves the patient's outcome. [8]. In newborns having heart surgery, delayed identification of congenital heart disease (CHD) is linked to circulatory compromise and organ failure, which prolongs ventilation and increases mortality. [9].

Foetal echocardiographic screening or newborn clinical screening can identify the majority of congenital heart abnormalities (CHD) that are relevant.  However, a significant portion of CHD cases are not detected during early clinical screening and are discovered after being hospitalized as children or even as adults.  The overall results of the children whose underlying significant heart abnormality was not discovered until immediate intervention was required are frequently impacted by this delay in reaching the accurate diagnosis early in life. The purpose of this study was to assess the parameters linked to delayed diagnosis in pediatric patients with congenital heart disease who were evaluated at our hospital.  To assess the clinical manifestations and determine the risk variables linked to children's congenital heart disease (CHD) delayed detection.

To evaluate the clinical profiles and determine the risk factors associated with delayed detection of congenital heart disease in children attending a tertiary cardiac care center.

Study type: Hospital-based Cross-sectional Observational Study

Study Duration: 1 Year

Study site: The study will be conducted in the Department of Paediatric Cardiology, Sri Satya Sai     Sanjeevani center for child heart care, Kharghar, Navi Mumbai, a tertiary care center.

Study Population:  All sequential patient enrolled and diagnosed as congenital heart disease during study period.

Sample Size:  1991 Congenital Heart Disease Patients

Inclusion criteria: 

All the patients who diagnosed with congenital heart disease at our institute would be enrolled and patient who are delayed diagnosed as per criteria included in study

Exclusion criteria:

Patent Foramen Ovale (PFO) and tiny Patent ductus arteriosus (PDA) without murmur were excluded from the study.

Study variable

• Age group
• Gender
• Person providing information
• Religion
• Background
• Delayed diagnosis
• Family History of CHD
• Birth Term
• Consanguinity

STATISTICAL ANALYSIS

For statistical analysis, data were initially entered into a Microsoft Excel spreadsheet and then analyzed using SPSS (version 27.0; SPSS Inc., Chicago, IL, USA) and GraphPad Prism (version 5). Numerical variables were summarized using means and standard deviations, while Data were entered into Excel and analyzed using SPSS and GraphPad Prism. Numerical variables were summarized using means and standard deviations, while categorical variables were described with counts and percentages. Two-sample t-tests were used to compare independent groups, while paired t-tests accounted for correlations in paired data. Chi-square tests (including Fisher’s exact test for small sample sizes) were used for categorical data comparisons. P-values ≤ 0.05 were considered statistically significant.

Table 1: Distribution with all parameters

Table 2: Associations of Clinical Risk Factors with Delayed Diagnosis of Congenital Heart Disease (CHD), Birth Term and Consanguinity

Figure: 1 Distribution of participants by type of heart disease

Figure: 2 Distribution of participants by delayed diagnosis

New patients of congenital heart disease presented at various ages, however the commonest age group was between one month to one year, with 36.6% of cases, followed by 1 year to 5 years, with 30.2% of cases. Only 7.1% of cases were presenting in the age group 0 to 1 months There was a similar distribution of both genders in the presentation with a slightly higher proportion of male cases (54.0%) as compared to females (46.0%). The largest proportion was seen with both parents providing information (38.3%), followed by mother (30.5%). Only 4.4% cases were brought by relatives other than the parents.The majority of patients presenting to the institute were Hindu by religion (75.0%), followed by Muslim (23.8%). Very few (1.2%) belonged to other religions More than half the cases (57.2%) presenting to the institute were from rural areas. There were also cases from urban (27.7%), slum (14.6%) and tribal (0.5%) areas. The majority of cases (74.8%) were found to be suffering from acyanotic heart disease. Only around one-fourth of the population (25.2%) were suffering from cyanotic heart disease A delay in diagnosis was seen in more than one-third of the cases (35.5%), while the rest (64.5%) were diagnosed in reasonable time

New patients of congenital heart disease presented at various ages from 0 to 17 years, with a median age of one-and-a-half years. The commonest age group was between one month to one year, with 36.6% of cases, followed by 1 year to 5 years, with 30.2% of cases. Only 7.1% of cases were presenting in the age group 0 to 1 months.

There was a similar distribution of both genders in the presentation with a slightly higher proportion of male cases (54.0%) as compared to females (46.0%).

A study by Rashid U [10] found that the distribution of boys to girls was similar, with 63.3% of patients being boys.

The largest proportion was seen with both parents providing information (38.3%), followed by mother (30.5%). Only 4.4% cases were brought by relatives other than the parents.

The majority of patients presenting to the institute were Hindu by religion (75.0%), followed by Muslim (23.8%). Very few (1.2%) belonged to other religions.

It was seen that the proportion of delayed diagnosis was higher among those who presented to the institute with an informant who was another relative, not either parent. In comparison there was a smaller proportion of delayed diagnosis when both parents came with the child.

The association between person providing information and delayed diagnosis was found to be statistically significant. [P-value <0.001]

It was found in the study that as age of child progressed, the proportion of delayed diagnosis was higher.

The association between age and delayed diagnosis was found to be statistically significant. [P-value <0.001]

It was found in the study that there was a similar distribution of delay in diagnosis across both genders.

The association between gender and delayed diagnosis was found to not be statistically significant. [P-value 0.522]

A study by Rashid U [10] found that the distribution of boys to girls was similar, with 63.3% of patients being boys with no significant difference in delay in diagnosis between male and female children, P = 0.1.

Comparison of religion with delayed diagnosis

It was found in the study that there was a similar distribution of delay in diagnosis across all religions.

The association between religion and delayed diagnosis was found to not be statistically significant. [P-value 0.239]

Comparison of background with delayed diagnosis

It was found in the study that the proportion of delayed diagnosis was higher among those coming from rural areas (39.3%) as compared to other areas. The proportion of delayed diagnosis was lowest in the patients belonging to tribal areas (20.0%).

The association between background and delayed diagnosis was found to be statistically significant. [P-value <0.001]

A study by Rashid U [10] found that the background of patients coming to their study also had a significant difference in delay in diagnosis, with more children from rural areas showing delay in diagnosis. Children living in rural area were significantly more delayed in diagnosis (88.4%) than those living in urban area (80.2%) with an odds ratio of 1.9. [P-value = 0.04]

The study by Murni IK et al [11] found similar findings, with proportion of delayed diagnosis being higher among those living outside the city as compared to those living in the city.

It was found in the study that the proportion of delayed diagnosis was higher among those suffering from cyanotic heart disease, with 61.8% as compared to those with acyanotic heart disease (26.6%). Okoromah et al [12], where cyanotic CHDs were significantly more likely to be diagnosed late due to their subtle early clinical signs and limited access to early echocardiographic screening in resource-limited settings.

The association between type of CHD and delayed diagnosis was found to be statistically significant. [P-value <0.001]

The study by Murni IK et al [11] found similar findings, with proportion of delayed diagnosis being higher among those with cyanotic heart disease (86.2%) as compared to those with acyanotic heart disease (54.9%).

The study by Rashid U et al [10] found contrasting findings, with a higher proportion of acyanotic heart disease having delay in diagnosis.

Comparison of relative affected by CHD with delayed diagnosis

It was found in the study that there was a similar distribution of delay in diagnosis in cases both with and without relatives affected by congenital heart disease.

The association between relative affected by CHD and delayed diagnosis was found to not be statistically significant. [P-value 0.688]

Comparison of birth term with delayed diagnosis

It was found in the study that the proportion of delayed diagnosis was higher among those children where the birth term was in the 9th month.

The association between birth term and delayed diagnosis was found to be statistically significant. [P-value =0.029]

Comparison of consanguinity with delayed diagnosis

It was found in the study that there was a similar distribution of delay in diagnosis in cases both with and without parents in a consanguineous marriage.

The association between consanguinity and delayed diagnosis was found to not be statistically significant. [P-value 0.699]

This finding is consistent with the study by Alabdulgader [13] which also did not find a significant correlation between parental consanguinity and the timing of CHD diagnosis, despite a higher prevalence of CHD in consanguineous families

Delayed diagnosis of congenital heart disease (CHD) in children continues to be a major challenge, especially in low-resource settings. This study draws attention to the wide range of clinical signs that can lead to missed or late diagnoses—such as soft heart murmurs that go unnoticed or vague respiratory issues that mimic common illnesses. Several factors were found to contribute to these delays, including the absence of routine prenatal screening, limited awareness among frontline healthcare providers, and financial or social barriers faced by families. Addressing these gaps through better training of medical staff, implementing universal newborn screening programs, and raising public awareness can make a significant difference. Strengthening primary healthcare services and establishing efficient referral systems are also key steps toward ensuring children with CHD receive timely care and better health outcomes

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