The most prevalent congenital abnormality in the world is congenital heart disease (CHD).  One out of every 100 kids is born with congenital heart disease (CHD), and one out of every four is born with catastrophic CHD [1].  The yearly mortality rate from congenital heart disease has decreased worldwide.

Even though children with congenital heart problems have a higher chance of survival and a higher quality of life, cardiac disorders continue to pose a significant global health concern [2].  According to recent studies, the prevalence of congenital heart disease (CHD) in India has climbed to 8.5–13.6 cases per 1000 children [3].  CHD is a major cause of newborn death in India (10%) [4]. Cognitive impairments and developmental delay are among the frequent morbidities associated with CHD in children (20–30%) [5]. If discovered early and the right medical or surgical intervention is implemented, a sizable percentage of infants born with congenital heart disease may go on to lead normal, productive lives.  When a patient does not require emergency management [6] at the time of diagnosis, when treatment does not pose a significant risk, when alternative management is not required, or when an earlier treatment might improve the patient's outcome [7], the diagnosis of CHD is considered to be correct.  In neonates having heart surgery, delayed diagnosis of congenital heart disease (CHD) is linked to circulatory compromise and organ failure, which prolongs ventilation and increases mortality. One of the most prevalent congenital malformations is congenital heart disease (CHD).  Significant morbidity and mortality result from delayed identification of congenital heart disease (CHD) [8].  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 outcome of children whose underlying significant heart abnormality was not discovered until immediate action was required is frequently impacted by this delay in making 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. Study the factors associated with delayed diagnosis in congenital heart diseases. Study the Characteristics patient with delayed diagnosis in congenital heart diseases.

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.

Sample Size:  1991 Diagnoses of congenital heart disease in neonates and children

Inclusion criteria: 

• Patients diagnosed with congenital heart disease (cyanotic or acyanotic) confirmed by echocardiography.
• Age group: Neonates and children up to 18 years of age.
• Both genders (male and female).

Exclusion criteria:

• Patients with acquired heart diseases (e.g., rheumatic heart disease, infective endocarditis).
• Patients with previously diagnosed CHD who were referred for follow-up or surgical intervention.
• Incomplete or missing clinical records, especially regarding timing of diagnosi

Study variable

• Age group
• Gender
• Person providing information
• Religion
• Background
• Delayed diagnosis

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 of participants by age, gender, person providing information, Religion, Background and Delayed diagnosis

Table 2: distribution by state

Table 3: distribution of Diagnosis among participants with acyanotic heart disease and cyanotic heart disease

Figure 1: Comparison of type of CHD with delayed diagnosis

The largest percentage of the 1991 children in our study were between the ages of one month and one year (729 patients, 36.6%), while the smallest percentage were between the ages of 0 and one month (142 patients, 7.1%).  Delays in diagnosis were substantially correlated with age group (p < 0.001). 916 females (46%) and 1075 males (54%) were present.  A statistically significant correlation (p <.00001) was found between gender and delayed diagnosis. Information Provider: In 762 cases (38.3%), the mother provided information alone (30.5%), the father provided information alone (534; 26.8%), and others provided information in 88 cases (4.4%).  There was a significant correlation (p <.00001) between this component and delayed diagnosis. Nearly all of the patients (1493, 75%) were Hindu, followed by Muslims (474, 23.8%), and others (24, 1.2%). There was a strong correlation between religion and delayed diagnosis (p <.00001). Slums (291, 14.6%), urban regions (551, 27.7%), and tribal backgrounds (10, 0.5%) were the next most common places for children to come from.  Diagnostic delay was significantly correlated with background (p <.00001). Of the 1991 children, 1285 (64.5%) received their diagnoses on time, whereas 706 (35.5%) received theirs later.  There was a statistically significant difference (p <.00001).

Out of the 1991 patients in our study, Maharashtra had the most contribution (1621 patients, or 81.4%), followed by Uttar Pradesh (221 patients, or 11.1%), and Bihar (56 patients, or 2.8%).  Jharkhand had 17 (0.9%), Gujarat had 16 (0.8%), Rajasthan had 11 (0.6%), Karnataka had 8 (0.4%), West Bengal had 5 (0.3%), and Madhya Pradesh had 21 patients (1.1%).  Meghalaya, Odisha, Punjab, Uttarakhand, and Dadra and Nagar Haveli and Daman and Diu each had one patient (0.1%), whereas Chhattisgarh and Assam had three instances each (0.2%), Delhi, and Haryana had two cases each (0.1%).  There was a statistically significant correlation (p <.00001) between the patient's condition and the results of the diagnosis.

The most common condition among the 1991 patients in our study was Ventricular Septal Defect (VSD), which was seen in 772 cases (51.8%), followed by Atrial Septal Defect (ASD) in 354 cases (23.8%), Patent Ductus Arteriosus (PDA) in 189 cases (12.7%), Pulmonary Stenosis in 48 cases (3.2%), Complete/Partial AVSD in 37 cases (2.5%), Aortic Stenosis in 26 cases (1.7%), Coarctation of the Aorta in 21 cases (1.4%), Others in 41 cases (2.8%), and VSD+PS in 1 patient (0.1%). Contrarily, 502 patients (25.2%) had cyanotic heart disease, with Tetralogy of Fallot (TOF) accounting for the majority of cases (296 cases, 59.0%), followed by TAPVC/PAPVC/PAPVD in 82 cases (16.3%), Transposition of Great Arteries (TGA) in 59 cases (11.8%), Single Ventricle in 22 cases (4.4%), Ebstein Anomaly in 6 cases (1.2%), Truncus Arteriosus in 5 cases (1.0%), and Others in 32 cases (6.4%).  A notable pattern in the forms of congenital heart disease identified was shown by the statistically significant differences in the distribution of these anomalies (p <.00001).

Of the 706 individuals in our study who had a delayed diagnosis, 310 (43.9%) had cyanotic CHD and 396 (56.1%) had acyanotic CHD.  Only 192 cases (14.9%) of the 1285 individuals with no delayed diagnosis had cyanotic CHD, whereas the majority (1093 cases; 85.1%) had acyanotic CHD.  There was a statistically significant correlation between the kind of CHD and delayed diagnosis (p <.00001).

Age and Delayed Diagnosis

In similar study by Murni IK et al [9] (2021) showed that 60.8% of the 838 individuals under the age of 18 had delayed diagnosis.  We discovered that the age group of 0 to 1 month had the fewest delayed diagnoses (142 patients, 7.1%), while the group of 1 month to 1 year had the most (729 patients, 36.6%).  This may be because older infants may have milder, less obvious symptoms, whereas younger newborns are monitored more regularly. A significant correlation between age and delayed diagnosis is shown by a p-value of less than 0.001.

Gender and Delayed Diagnosis

In others study by Ooi PH et al [10] (2021) showed that of the 1,234 newborns with a CHD diagnosis, 38% were female and 62% were male. We demonstrated that, of the 1991 children, 1075 were male (54%) and 916 were female (46%), with the likelihood of a delayed diagnosis being higher for males.  This imbalance may be exacerbated by gender disparities in illness presentation or healthcare-seeking behavior. A substantial correlation between gender and delayed diagnosis is shown by a p-value of less than 0.00001.

Person Providing Information

We found that 762 cases (38.3%) had information from both parents, 607 cases (30.5%) had information from the mother alone, and 534 cases (26.7%) had information from the father alone.  When only one parent or other person supplied information, delays were more frequent, most likely as a result of decreased awareness or postponed action. A substantial correlation between the source of information and delayed diagnosis is shown by a p-value of less than 0.00001.

Religion and Delayed Diagnosis

The majority of children were Hindu (1493 patients, 75%), followed by Muslims (474 patients, 23.8%), and other ethnic groups, according to our data.  Timelines for diagnosis may be impacted by religion's influence on cultural customs, access to healthcare, and the urgency of seeking medical attention. Religion is strongly linked to delayed diagnosis, as indicated by the p-value of less than 0.00001.

Geographical Background and Delayed Diagnosis

We found that a sizable fraction of children came from rural areas (1139 patients, 57.2%), whereas less came from slums (291 patients, 14.6%) and urban areas (551 patients, 27.7%).  Delays in diagnosis are probably caused by the inadequate healthcare infrastructure in slum and rural areas. The considerable influence of geographic background on delayed diagnosis is highlighted by the p-value of less than 0.00001.

State of Residence and Delayed Diagnosis

81.4% (1621 patients) of the cases were in Maharashtra, followed by Uttar Pradesh (221 patients, 11.1%) and Bihar (56 patients, 2.8%).  Compared to states with fewer resources, Maharashtra and other states with superior healthcare infrastructure had fewer delays. The state of residency has a strong correlation with delayed diagnosis (p-value < 0.00001).

Types of Congenital Heart Disease (CHD)

In similar study by Falkentoft AC et al [11] (2018) showed that 450 children with non-cyanotic congenital heart defects, including Ventricular Septal Defect (VSD) and Patent Ductus Arteriosus (PDA), were examined in the study. We demonstrated that Ventricular Septal Defect (VSD) was the most common (772 patients, 51.8%), while acyanotic CHD was more common (1489 patients, 74.8%).  502 patients (25.2%) had cyanotic CHD, with Tetralogy of Fallot (TOF) accounting for the majority (296 cases, 59.0%). A significant correlation between the kind of CHD and delayed diagnosis is indicated by a p-value of less than 0.00001.

Delayed Diagnosis and Type of CHD

Of the 706 cases with delayed diagnosis, we found that 310 (43.9%) had cyanotic CHD and 396 (56.1%) had acyanotic CHD.  Given that cyanotic CHD frequently manifests with more acute symptoms, a larger percentage of acyanotic CHD was diagnosed later, most likely due to its less evident symptoms. There is a substantial correlation between the kind of CHD and delayed diagnosis (p-value < 0.00001).

We concluded that age, gender, parental participation, religion, region, and type of congenital heart disease (CHD) all have an impact on the diagnostic gap in children's CHD, according to this retrospective study.  Infants between the ages of one month and one year, boys, those living in remote areas, and households with little parental involvement were more likely to have delayed diagnoses.  Compared to acyanotic CHD, cyanotic CHD was more likely to be identified later.  In order to decrease diagnostic delays and enhance outcomes in pediatric congenital heart disease, especially in underprivileged and socioeconomically disadvantaged populations, the data emphasizes the necessity of better early detection techniques, fair access to healthcare, and raised awareness.

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