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Research Article | Volume 15 Issue 8 (August, 2025) | Pages 876 - 879
The Incidence and Pattern of Congenital Heart Disease: Descriptive Study
 ,
 ,
 ,
1
Assistant Professor, Department of Pediatrics, CIMS, Chamarajanagar, Karnataka, India
2
Pediatrician, Ayushmathi Clinic, NHM, Mysore, Karnataka, India
3
Assistant Professor, Department of General Surgery, CIMS, Chamarajanagar, Karnataka, India
4
Assistant professor, Department of Anesthesia, CIMS, Chamarajanagar, Karnataka, India
Under a Creative Commons license
Open Access
Received
July 16, 2025
Revised
July 26, 2025
Accepted
Aug. 5, 2025
Published
Aug. 30, 2025
Abstract

Congenital heart disease accounts for nearly one-third of all congenital birth defects and, therefore, the focus on congenital heart disease is integral to eliminating preventable child deaths and NCDs in the SDG era. Nine-tenths of the world's children born with congenital heart disease live in locations with little to no care and where mortality remains high. After informed consent thorough history and clinical examination of infants done. ECG & X-ray was taken, NADAS criteria applied. In those whom NADAS criteria was suggestive of CHD, submitted for 2D ECHO. Based on 2D echo results, pattern of CHD was noted down in different age group of infants, and also pattern among normal and dysmorphic children compared. Analysis was done using appropriate statistical tests. In our study, complex CHDs ASD+PDA, were more commonly seen in dysmorphic infants compared to phenotypically normal infants, which is statistically highly significant (p value, 0.001). There was not much difference between phenotypically normal and dysmorphic infants with respect to ASD, VSD, PDA, TOF, TAPVC. In our study, Complex CHDs seen are scimitar syndrome, common atrium with severe PAH with bilateral SVC, common ventricle, hypoplastic left heart syndrome.

Keywords
INTRODUCTION

Congenital heart disease (CHD) is the commonest of all congenital lesions, responsible for 28% of all congenital birth defects and is the most common type of heart disease among children [1]. Congenital heart disease, in a definition proposed by Mitchell et al. is “a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance [2]”. The incidence of congenital heart disease is approximately 8 per 1000 live birth, with a higher rate in stillbirth, spontaneous abortion and prematurity [3]. It is believed that this incidence has remained constant worldwide. The birth prevalence of severe CHD has been consistently reported as 1.5 to 1.7 per 1000 live births [4]. About 2-3 per 1000 newborns will be symptomatic with heart disease in the 1st year of life. The diagnosis is established by 1 week of age in 40%-50% of patients. CHD is considered one of the leading causes of neonatal mortality [5]. According to a status report on CHD in India, 10% of the present infant mortality may be accounted to CHD [6]. Many cases are asymptomatic and discovered incidentally during routine health checkup.

Diagnostic and treatment capabilities for congenital heart disease have dramatically improved over the past 80 years. In the Metropolitan Atlanta Congenital Defects Program, infant survival with critical congenital heart disease improved from 67·4% for the 1979-93 birth cohort to 82·5% for the 1994-2005 cohort [7]. A Finnish registry study similarly showed a decrease in early and late post-operative congenital heart disease mortality in 1990-2009 compared with 1953-89 [8]. Reports from Belgium and Sweden found that 90-95% of children with congenital heart disease born between 1972 and the early 1990s survived into adulthood [9]. These studies show substantial improvement in survival in developed regions of the world, but the same success rates are not yet seen in developing regions.

The Sustainable Development Goals (SDGs) were adopted by the UN in 2016. SDG 3.2 aims to reduce the mortality of neonates to less than 12 deaths per 1000 live births and the mortality of children to less than 25 deaths per 1000 live births. SDG 3.4 aims to reduce premature mortality due to non-communicable diseases (NCDs) by one-third by 2030. Congenital heart disease accounts for nearly one-third of all congenital birth defects and, therefore, the focus on congenital heart disease is integral to eliminating preventable child deaths and NCDs in the SDG era [10]. Nine-tenths of the world's children born with congenital heart disease live in locations with little to no care and where mortality remains high. Despite some improvements in the past two decades, neonates in low-income and middle-income countries (LMICs) with severe forms of congenital heart disease and without access to surgical treatment are more likely to die before their fifth birthday than are those in high income countries (HICs).

MATERIALS AND METHODS
  • Study settings: Department of Pediatrics.
  • Study subjects: The infants suspected to have congenital heart disease attending the Department of Pediatrics (on OPD or IPD basis).
  • Sample size: Based on previous records, sample size was 150 cases.
  • Data collection: After informed consent thorough history and clinical examination of infants done. ECG & X-ray was taken, NADAS criteria applied. In those whom NADAS criteria was suggestive of CHD, submitted for 2D ECHO. Based on 2D echo results, pattern of CHD was noted down in different age group of infants, and also pattern among normal and dysmorphic children compared. Analysis was done using appropriate statistical tests.

 

INCLUSION CRITERIA

  • All infants and term neonates suspected to have CHD based on NADAS criteria.
  • The following infants even though NADAS criteria was not suggestive of CHD, when CHD was suspected in following conditions:
  1. Failure to thrive
  2. Repeated respiratory tract infection
  3. Syndromic children

 

EXCLUSION CRITERIA

  • Preterm neonates
  • Sick, gasping children who can not be shifted for 2D Echo

 

OUTCOME

  • PRIMARY OUTCOME: The pattern of CHD was recognized based on age of presentation in suspected cases and also CHD pattern are compared in normal and dysmorphic infants.
  • SECONDARY OUTCOME: Clinical presentation on age of presentation was observed and also immediate outcomes noticed.

 

STATISTICAL DATA ANALYSIS

Data was analyzed by IBM SPSS 25.0 version software. Collected data were spread on excel sheet and prepared master chart. Through the master chart tables and graphs were constructed. For quantitative data analysis of descriptive statistics were done mean, standard deviation initially; independent samples “t‑” test was used to compare the mean values between two variables for statistical significant. For quantitative data analysis chi-square test and Fisher exact probability tests were applied for statistically significant. p≤0.05 was considered statistically significant for all comparisons.

RESULTS

TABLE 1: Comparison of Pattern of CHD in Phenotypically Normal and Dysmorphic Infants

Pattern of CHD

Phenotypically normal infants (n=144)

Dysmorphic infants (n=6)

P- value & Significance

Number

Percentage

Number

Percentage

ASD

38

26.4

0

0.0

P = 0.145, NS

VSD

42

29.2

2

33.3

P =0.983,NS

PDA

16

11.1

0

0.0

P =0.387, NS

Comp CHD

2

1.4

2

33.3

P = 0.000, HS

ASD + VSD

15

10.4

0

0.0

P = 0.404, NS

ASD + PDA

0

0.0

2

33.3

P = 0.000, HS

PDA + VSD

2

1.4

0

0.0

P = 0.771, NS

TAPVC

10

6.9

0

0.0

P = 0.504, NS

TOF

9

6.3

0

0.0

P = 0.573, NS

No CHD

10

6.9

0

0.0

P = 0.504, NS

Total

144

100.0

6

100.0

150

 

In our study, in phenotypically normal infants, complex CHD seen in 2(1.4%), ASD+PDA seen in 0 cases. In dysmorphic infants, complex CHD seen in 2 (33.3%), ASD+PDA seen in 2 (33.3%) cases.

In our study, complex CHDs ASD+PDA, were more commonly seen in dysmorphic infants compared to phenotypically normal infants, which is statistically highly significant (p value, 0.001). There was not much difference between phenotypically normal and dysmorphic infants with respect to ASD, VSD, PDA, TOF, TAPVC.

In our study, Complex CHDs seen are scimitar syndrome, common atrium with severe PAH with bilateral SVC, common ventricle, hypoplastic left heart syndrome.

 

Table 2: Gender Wise Distribution of Pattern of CHD in Infants

Pattern of CHD

 CHD cases

P-value & Significance

Males

Females

Total

ASD

17

21

38

P = 0.784, NS

VSD

20

24

44

P =0.637, NS

PDA

7

9

16

P =0.583, NS

Complex CHD

4

0

4

P = 0.0395, S

ASD + VSD

8

7

15

P = 0.932, NS

ASD + PDA

2

0

2

P = 0.706, NS

PDA + VSD

1

1

2

P = 0.986, NS

TAPVC

7

3

10

P = 0.149, NS

TOF

3

6

9

P = 0.194, NS

Normal

3

7

10

P = 0.238, NS

Total

72

78

150

---

 

In our study, all cases of complex CHD was seen in males and no cases in females, with p value of 0.0395 which is significant. There was statistically no significant difference of gender with CHD patterns of ASD, VSD, ASD + VSD, ASD + PDA, PDA + VSD, TAPVC, TOF and normal (P>0.05)

 

 

Table 3: Age Wise Distribution of Pattern of CHD in Infants

Pattern of CHD

Age groups

Total

P-Value & Significance

1-28 Days

(N=54)

29 Days-6 months

(N=52)

7 months-12 months

(N=44)

ASD

11 (20.4%)

8 (15.4%)

19 (43.2%)

38

P = 0.004, HS

VSD

16 (29.4%)

17 (32.7%)

11 (25.0%)

44

P =0.7104, NS

PDA

10 (18.5%)

5 (9.6%)

1 (2.3%)

16

P =0.033, S

Complex CHD

2 (3.7%)

1 (1.9%)

1 (2.3%)

4

P =0.847, NS

ASD +VSD

5 (9.3%)

4 (7.7%)

6 (13.6%)

15

P =0.616, NS

ASD + PDA

1 (1.8%)

0 (0.0%)

1 (2.3%)

2

P =0.793, NS

PDA + VSD

1 (1.8%)

1 (1.9%)

0 (0.0%)

2

P =0.905, NS

TAPVC

1 (1.8%)

7 (13.5%)

2 (4.5%)

10

P =0.045, S

TOF

1 (1.8%)

5 (9.6%)

3 (6.8%)

9

P = 0.324, NS

Normal

6 (11.1%)

4 (7.7%)

0 (0.0%)

10

P =0.084, NS

Total

54 (100.0%)

52 (100.0%)

44 (100.0%)

150

----

 

In our study, There was statistically highly significant association of age and ASD (P<0.001). ASD is more common in 7-12 months of age seen in 19(43.2%), seen in 11 (20.4%) among ≤ 28 Days and seen in 8(15.4%) in 29 days -6month age group.

There was statistically significant association of age with respect to PDA and TAPVC (p<0.05). PDA is more common in ≤ 28Days (neonates) and TAPVC seen more commonly in age group of 29 days to 6 months as compared to age group ≤ 28Days and 7 months to 12 months.

There was statistically no significant association of age with respect to VSD, Complex CHD, ASD + VSD, ASD + PDA, PDA + VSD, TOF and normal cases (P>0.05)

 

Table 4: Distribution of Cases based on Components of Nada’s Criteria

Criteria

Number of cases

Percentage

Major

Systolic murmur grade 3 or more

40

33.3

Diastolic murmur

0

0.0

Cyanosis

30

20

Congestive cardiac failure

7

4.7

Minor

Systolic murmur grade less than 3

70

40.0

Abnormal S2

89

59.3

Abnormal ECG

34

22.6

Abnormal X-ray

87

58.0

Abnormal BP

7

4.7

 

In our study, abnormal S2 is most common criteria seen in 89(59.3%) infants, followed by abnormal X-ray seen in 87(58%) and systolic murmur grade 3 or more is most common major criteria seen in 50 (33.3%) of infants, cyanosis seen in 30 (20%).

 

Table 5: Distribution of Cases based on Abnormalities of S2

Categories of Abnormal S2

Number of cases

Percentage

Fixed S2 Splitting

67

75.3

Soft S2

2

2.2

Loud S2

20

22.5

Total

89

100.0

 

 In our study, out of 89 abnormal S2 cases, 67 (75.3%) of cases had fixed S2 splitting, 20 (22.5%) of cases had loud S2 and 2 (2.2%) of cases had soft S2.

DISCUSSION

Our study found that, isolated VSD 44(29.3%) is the most common pattern seen followed by ASD 38(25.3%) and PDA 16(10.6%), which is in accordance with study conducted by Amber Bashir Mir [11] the most common CHD was ventricular septal defect (VSD) (32.1%) followed by atrial septal defect (ASD) (21.6%) and PDA (9.7%). A study by Hussain et al. [12] Khalil et al. [13] noted VSD and PDA were the most common lesions found in 34.8% and 18.6%, respectively. Commonest lesion was VSD (32%) followed by ASD (16%), PDA & TOF (12%). Similarly in study by Meshram et al. VSD was most common CHD seen in 30.1%, followed by ASD in 20.7% [14] and in study by Kapoor R et al. VSD seen in 21.3% and ASD in 18.9%. This may be explained by genetic makeup and ethnicity. A lower frequency has been reported in the literature, because these anomalies have been classified in a secondary Hierarchical scale, and have been usually associated with other anomalies.

In our study, out of 6 dysmorphic cases, all had CHD and most common presentation was ASD, VSD and Complex CHD (all 33.3%), this goes in accordance with study done by Mary James [15] et al. who found that out of the 134 children with no major anomaly, 52 (38.8%) had CHD. Out of 16 children with a major anomaly, 14 (87.5%) had CHD and out of 16 children with a minor anomaly, 14 (87.5) had CHD. Similarly in study conducted by Muhsin Elmas et al. [16] atrial septal defect (ASD) and ventricular septal defect (VSD) were the most commonly encountered echocardiography findings in dysmorphic children (13.5%, and 6.8% respectively) and it was concluded that approximately 33.5% of the children with dysmorphology had abnormal echocardiography. Similarly, a clinical study found that congenital heart diseases were significantly more frequent in dysmorphic patients than in healthy population (33.5% vs. 1.6%). When compared to healthy children, the dysmorphic children had significantly higher incidences of atrial septal defect (0.2% vs. 13.5%), patent foramen ovale (2.7% vs. 9.2%) and ventricular septal defect (0.5% vs. 6.8%) [12].

In our study, complex CHDs were more commonly seen in dysmorphic infants compared to phenotypically normal infants with p value <0.001, which was highly significant. Out of 150 infants in our study, as per NADA’s criteria, 116 (77.3%) of cases fullfilled major criteria and 34 (22.7%) of cases fullfilled minor criteria. In our study, in major criteria, 38.7% had systolic murmur grade 3 or more which was most common. in minor criteria, 59.3 % had abnormal S2 which was most common. In the study conducted by Mary James [15] et al. reported that when the grade of murmur was 3/6 or above, 89% (32 out of 36) murmurs were pathological. All children with grade 4 and 5 murmurs had a structural heart disease (16 and 6 children respectively). When the grade of murmur was 2/6, only 26% (30 out of 114) of murmurs were pathological. When the grade of the murmur was 3/6, 71% (10 out of 14) were pathological. Changes of the second heart sound are caused by shifting in position and changes in magnitude of the aortic or pulmonary component, or both. Differences in the magnitude of each component are primarily related to changes in pressure but are also affected by structural changes of the vascular walls. In our study, we observed that out of 89 abnormal S2 cases, 67 (75.3%) of cases had fixed S2 splitting, 20 (22.5%) of cases had loud S2 and 2 (2.2%) of cases had soft S2. This goes in accordance with study conducted by Mary James [15] et al. reported abnormal S2 was present in 21 cases. Wide split S2 in 13 cases of ASD, loud P2 in 6 cases of large VSD, and single S2 in 2 cases of TOF. All of them with abnormal S2 had a congenital heart disease. Though S2 was considered only as minor criteria in NADAS criteria, all children with abnormal S2 in this study had CHD.

ASD is more common in 7-12 months of age seen in 19(43.2%), and there is no much difference in distribution of other types of CHD in different age groups among infants in our study. Though ASD usually presents later in life but in our study more number of cases had ASD in infancy.

CONCLUSION
  • Out of 150 infants, 144 (96.0%) were phenotypically normal and 6 (4.0%) of cases were dysmorphic.
  • In phenotypically normal infants, complex CHD seen in 2(1.4%), ASD +PDA seen in none. In dysmorphic infants, complex CHD seen in 2 (33.3%), ASD+PDA seen in 2 (33.3%) In our study, complex CHDs, ASD+PDA were more commonly seen in dysmorphic infants compared to phenotypically normal infants.
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