Congenital heart disease (CHD) remains a significant pediatric health burden, ranking among the five leading causes of mortality in children under five years. Although rapid socioeconomic progress has contributed to a substantial reduction in CHD-related mortality in both urban and rural regions, important challenges persist⁽¹⁾. The clinical spectrum of CHD in Western Maharashtra reflects global trends, with acyanotic defects such as ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) being the most frequently encountered lesions⁽²⁾. Cyanotic defects, though less common, are associated with greater severity and complexity, often requiring early tertiary care intervention⁽³⁾. Variable clinical presentations—including recurrent respiratory infections, feeding difficulty, failure to thrive, and cyanosis—coupled with limited regional awareness and lack of timely referral pathways complicate both primary and specialized CHD management^(4,5).

The influence of maternal factors, genetic predisposition, socioeconomic status, and environmental exposures further modulates incidence and clinical outcomes, as demonstrated by National Birth Defects and regional studies⁽⁶⁾. Recent data also underscore disparities in rural and urban access to pediatric cardiology services, with rural sectors experiencing delayed diagnosis and treatment and consequently higher rates of adverse clinical outcomes⁽⁷⁾.

Despite advancements in neonatal screening and pediatric echocardiography, underdiagnosis persists in low-resource and remote settings⁽⁸⁾. The regional registry and most hospital-based data indicate that late discovery of complex lesion types, gaps in follow-up, and affordability issues remain primary barriers to optimal care. Improving primary physician awareness, interdisciplinary cooperation, and establishing robust referral networks are critical steps to address the burden of CHD^(9,10).

There is urgent need for comprehensive data on the clinical presentation, severity, phenotypic patterns, and urban–rural variations of CHD. This study aims to elucidate the clinical profile and demographic distribution of congenital heart diseases among pediatric patients attending a tertiary hospital in West Maharashtra. By characterizing the spectrum, presenting features, and risk factors associated with CHDs, the study seeks to inform targeted interventions and enhance regional pediatric cardiac care pathways.

This retrospective observational study was conducted in the Department of Pediatrics, RCSM Government Medical College, Kolhapur, West Maharashtra. 120 children aged 0 to 18 years who were diagnosed with congenital heart disease (CHD) during the study period formed the study population. Diagnoses were confirmed either at admission or during the subsequent evaluation. Patients with acquired heart disease, as well as those whose records lacked essential diagnostic data or detailed clinical information, were excluded.

Clinical and demographic information was gathered from the hospital's medical records. The following variables were recorded for each patient: age, gender, geographic origin (urban or rural), specific CHD diagnosis as per ICD-11 classification, associated symptoms, and important clinical manifestations. Each case underwent a structured assessment that included clinical review, laboratory investigations if indicated, and a pediatric echocardiogram. The classification of CHD into acyanotic and cyanotic types was based on standard pathophysiologic definitions.

All subjects were evaluated by detailed history taking, physical examination, and diagnostic imaging. 2D echocardiography was the principal diagnostic tool used to confirm structural anomalies. Additional investigations were performed as required for differential diagnosis or to assess comorbid conditions. Patients were assigned ICD-11 codes in accordance with the nature of the cardiac defect. Clinical symptoms such as murmurs, cyanosis, respiratory distress, poor feeding, and others were recorded at initial presentation.

Patient data were analyzed using descriptive statistics; frequencies and percentages were reported for categorical variables (demographics, CHD types, symptoms, etc.). Comparative analyses between acyanotic and cyanotic CHD as well as between urban and rural origins were performed. The chi-square test was used for categorical associations, with a p-value less than 0.05 considered statistically significant. All analyses were conducted using statistical software such as SPSS version 20 and GraphPad Prism version 7.

The study protocol was reviewed and approved by the Institutional Ethics Committee of RCSM GMC, Kolhapur. Data confidentiality was strictly maintained; no personally identifying patient information was included. Since this was a retrospective review of routinely collected clinical data, written informed consent was waived. All procedures adhered to the guidelines set forth in the Declaration of Helsinki and applicable national and institutional standards.

Table 1: Demographic profile of the Patients (n=120):

In the present study, most patients were infants below 1 year (60.8%), followed by 2–5 years (23.3%) and >5 years (15.8%). Gender distribution was nearly equal (male 50.8%, female 49.2%). A slight majority were from urban areas (55.0%), and acyanotic CHD predominated (75.8%) over cyanotic CHD (24.2%). CHD was most frequently detected in infancy, with no gender bias, and acyanotic forms were more common, especially in urban patients.

Table 2: Clinical spectrum of congenital heart diseases of study participants (n=120)

Ventricular and ventricular septal anomalies accounted for the largest proportion (46.8%), followed by ventriculoarterial valve anomalies (12.4%) and atrial septal anomalies (12.1%). Other anomalies like AV valve defects (7.9%), great artery anomalies (6.8%), AV/VA connection anomalies (5.7%), and mediastinal vein anomalies (5.7%) were less common. Rare entities such as functionally univentricular heart (1.1%) and intellectual development disorders (1.1%) were least observed. Ventricular and septal defects formed nearly half of the congenital heart disease spectrum, confirming their predominance in pediatric CHD presentations.

Lesions of congenital heart diseases of study participants:

Simple lesions were seen in 58.3% of cases. VSD was most common (17.4%), followed by combined VSD+ASD (10.2%), PDA (8.7%), isolated ASD (7.2%), and triple lesions VSD+ASD+PDA (5.3%). Less frequent were PS (4.5%), ASD+PDA (4.2%), and VSD+PDA (1.5%). Simple lesions, particularly VSD and its combinations, were the most frequent congenital anomalies detected in this cohort.

Complex lesions contributed 38.3% of cases. TAPVR (5.7%), coarctation of aorta (5.3%), and pulmonary atresia (4.9%) were the leading lesions, followed by TOF (3.8%), TGA (2.3%), PMV (2.3%), and mitral valve anomalies (2.3%). Rare complex defects included DORV (1.5%), truncus arteriosus (1.1%), Ebstein anomaly (1.1%), single ventricle (1.1%), interrupted aortic arch (0.8%), and rare combinations (1.2%). Complex lesions were diverse, with TAPVR and coarctation of aorta emerging as relatively frequent entities compared to global data.

Graph 1: Lesions of congenital heart diseases

VSD: Ventricular Septal Defect; ASD: Atrial Septal Defect; PDA: Patent Ductus Arteriosus; PS: Pulmonary Stenosis, TAPVR: Total Anomalous Pulmonary Venous Return; COA: Coarctation of Aorta; PA: Pulmonary Atresia; TOF: Tetralogy of Fallot; TGA: Transposition of Great Arteries; PMV: Prolapse of Mitral Valve; MV: Mitral Valve Insufficiency; AS: Aortic Stenosis; DORV: Double Outlet Right Ventricle; TA: Truncus Arteriosus; SV: Single Ventricle; IAA: Interrupted Aortic Arch; CECD: Complete Endocardial Cushion Defect; ccTGA: Congenitally Corrected TGA; MVS: Mitral Valve Stenosis; PAS: Pulmonary Artery Sling.

Table 3: Symptoms of each CHD type (n=120)

ACHD: Acyanotic CHD; CCHD: Cyanotic CHD

Overall, murmurs (90.2%) and sweating (84.2%) were the most common presentations. Failure to thrive (69.1%) and fast breathing (68.3%) were also frequent. Cyanosis occurred in 52.8% overall, but markedly higher in CCHD (84.4%) compared to ACHD (42.8%). Difficulty feeding (48.3%) and retractions (42.3%) were notable, while CHF was seen in 36.2% and recurrent respiratory infections in 24.2%. Cyanotic spells (7.2%) occurred almost exclusively in CCHD (26.6%). Murmur, sweating, and growth failure were dominant symptoms, while cyanosis and spells distinctly marked cyanotic CHD cases.

Table 4: Association between Age and CHD Type (n=120)

No significant association was found between CHD type and age (p=0.6569) or gender (p=0.9597). However, regional distribution showed a significant association (p<0.001), with urban cases being predominantly acyanotic (97%) and rural cases equally distributed between acyanotic (50%) and cyanotic (50%). Type of CHD was independent of age and gender but strongly influenced by geographical background, with cyanotic CHD disproportionately affecting rural children.

Demographic profile of the Patients:

The demographic profile observed in our study, with a male-to-female ratio nearly identical (male 50.8%, female 49.2%) and most cases presenting in infancy (60.8% under 1 year), parallels the results from Surendiran et al. in Western Maharashtra where the male-to-female ratio approached unity and infants made up the largest age group (urban 57%, rural 43%). Holkar et al. found a slightly higher male prevalence (ratio 1.2:1) in rural Maharashtra, which may relate to more male births, social referral trends, or regional population patterns. The proportion of urban cases (55%) in our cohort is similar to other hospital-based studies, indicating that access to tertiary care is typically greater in urban settings.

Clinical spectrum of congenital heart diseases of study participants

The predominance of acyanotic CHD (75.8%) compared to cyanotic CHD (24.2%) in our cohort supports previous Indian research. Surendiran et al. reported acyanotic cases at 74%, cyanotic at 26%, while Maheshwari et al. documented 76.5% acyanotic and 23.5% cyanotic in Central India. Holkar et al. observed a slightly higher ratio with 87% acyanotic and 13% cyanotic in rural Maharashtra, suggesting that the diagnostic yield and referral patterns impact identification of complex lesions. These ratios reflect nationwide registry data (Sahoo et al.), which indicates acyanotic defects regularly comprise 65–75% of all CHD cases.

Lesions of congenital heart diseases of study participants

Ventricular septal defect (VSD) was most frequently identified (17.4%), with other simple lesions including ASD (7.2%), PDA (8.7%), and PS (4.5%). Surendiran et al. reported similar trends, with VSD accounting for 21.8%, and Maheshwari et al. also found VSD as the leading lesion (28.7%), followed by ASD and PDA. Kishore et al. observed slightly higher percentages for VSD (31%) and ASD (23%). Differences may arise from earlier hospital presentation of VSD, greater prominence of heart murmurs in acyanotic lesions, and the timing of postnatal echocardiography, which influences lesion detection. Complex lesions constituted 38.3% of our cases, most notably TAPVR (5.7%), COA (5.3%), and PA (4.9%). This proportion and lesion spectrum aligns with national data, albeit with lower prevalence of TOF (3.8%) compared to other centers, such as Gupta et al. from Jammu (TOF 12.2%). Institutional referral bias and case severity at presentation likely account for such differences.

Symptoms of each CHD type

The clinical presentation showed high rates of murmurs (90.2%), sweating (84.2%), and failure to thrive (69.1%), closely mirroring results from Kishore et al. and Chaudhary et al., where fast breathing, feeding difficulty, and growth failure were estimates of primary symptoms in pediatric CHD across India. Our findings also recorded cyanosis in 52.8%, which was far more frequent in cyanotic CHD (84.4%) than acyanotic forms (42.8%), confirming the established distinction in presentation between the two major CHD types. Congestive heart failure occurred in 36.2% of our cases, matching Sommers et al. (39.1%) and Al Faham et al. (44%, p < 0.05). Minor variations in frequency can be attributed to sample size, hospital setting, and referral source.

Association between Age and CHD Type

In our study, infants represented the largest age group diagnosed (60.8%), a finding in agreement with Kishore et al. (45% under 1 year) and Chaudhary et al. (38.1% infants with acyanotic CHD; p < 0.05). No statistically significant association was seen between age and CHD type (p = 0.6569), echoing similar non-significant findings in regional publications and underscoring the random nature of congenital defects’ expression across pediatric age groups.

Association between Gender and CHD Type

Gender did not show a significant relationship with CHD type (p = 0.9597), replicating the results of Surendiran et al. and Chaudhary et al., who concluded that either gender can be equally affected by both major types of congenital heart disease. The implication is that sex-linked genetic or environmental risk factors play only a minor role, if any, in overall CHD risk in Indian pediatric populations.

Association between Region and CHD Type

Region was highly significant, with acyanotic CHD disproportionately affecting urban children (97%), while rural children showed an equal split between acyanotic and cyanotic cases (50% each; p = 0.001). These trends closely parallel the data from Surendiran et al. and Chowdhury et al., who attributed these disparities to worse access, delayed diagnosis, and limited pediatric cardiology services in rural India. The persistent difference highlights the need to address infrastructure and outreach gaps so that critical and complex cyanotic cases are detected and managed early in rural areas as well.

The findings highlight a predominance of acyanotic defects (75.8%), most commonly affecting infants, alongside regional differences in lesion complexity. No significant association exists between type and age or gender, but rural areas have notably higher rates of complex, cyanotic conditions. Strengthening rural cardiac services, expanding newborn screening, and establishing robust referral networks are recommended to improve early diagnosis and equitable cardiac care.

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