European Journal of Cardiovascular Medicine

The clinical presentation of congenital heart disease varies according to the type and severity of the defect. In neonatal period the presenting feature of congenital heart disease are cyanosis (with or without respiratory distress), heart failure (with or without cyanosis), collapse, an abnormal clinical sign detected on routine examination (e.g., absent femoral pulse or a heart murmur). In infancy and childhood the usual presenting features are cyanosis, digital clubbing, murmur, syncope, squatting, heart failure, arrhythmia, failure to thrive. The adolescent and adults present with heart failure, murmur, arrhythmia, cyanosis, hypertension, late consequences of previous cardiac surgery (e.g., arrhythmia, heart failure) [1, 2].

The initial evaluation of any newborn suspected of having critical CHD includes a meticulous physical examination, four extremity blood pressures, preductal and postductal saturations, hyperoxia test, and chest radiograph. Echocardiography, with Doppler and color Doppler, has become the primary diagnostic tool for CHD. In addition, it reduces the requirement for invasive studies such as cardiac catheterization [3].

As a common congenital anomaly, CHD not only contributes to a significant morbidity and mortality but also causes a tremendous psychological stress and economical burden to the whole family. However, if the problems are recognized at earlier age, the chance of long term complications are less and the outcome is better. As a result of improved medical and surgical management, more children with CHD are surviving into adolescence and adulthood. Thus there is a need for an increased awareness among general physicians and cardiologists of the problems in these individuals [4].

NADAS criteria is used to suspect CHD in infants which includes 4 major criteria (systolic murmur grade 3 or more, diastolic murmur, cyanosis, CHF and 5 minor criteria (systolic murmur grade 2 or less, abnormal 2^nd heart sound, abnormal ECG, abnormal chest X-Ray, abnormal BP). 1 major criteria or 2 minor criteria is suggestive of CHD.

• Study design: Prospective observational study.
• 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.

Table 1: Age Wise Distribution of Suspected CHD in Infants

 Majority of infants with suspected CHD in our study belonged to ≤28 days (neonatal age group), that is 54 (36.0%), followed by 52 (34.7%) of infants belonged to the age group of 29 days-6 months and 44 (29.3%) of infants belonged to the group of 7 months-12 months. The mean age of infants was 5.32 months.

Table 2: Gender Wise Distribution of Suspected CHD in Infants

In our study, 78 (52.0%) of cases were males and 72 (48.0%) of cases were females. Male to female ratio was 1.08:1.

Table 3: Distribution of Infants with Suspected CHD based on Presenting Symptoms

In our study most common symptom was hurried breathing seen in 125 (83.3%) of infants, followed by cyanosis seen in 81 (54.0%) and cough seen in 69 (46.0%) of infants.

Table 4: Clinical Presentation based on Different Age Groups in Infants with Suspected CHD

In our study, in ≤28 days age group hurried breathing is most common presenting symptom seen in 48(88.9%), followed by cyanosis seen in 34 (18.5%), and forehead sweating seen in 6(11.1%). Cyanosis disappeared after treatment in 51 (62.9%) cases suggesting respiratory cause and cyanosis persisted in 30 cases (37%).

In 29 days -6 months age group, hurried breathing is most common symptom, seen in 41(78.8%), followed by cough seen in 36 (69.3%) and cyanosis seen in 28 (28.8%).

In 7-12 months age group, hurried breathing seen in 36 (81.8%), cough seen in 33 (75.0%) and fever seen in 26 (59.1%).

In our study; There was statistically significant association of presenting symptoms of cough, fever with respect to age groups (P<0.001). Whereas there was statistically no significant association of presenting symptoms of hurried breathing, cyanosis, FTT and forehead sweating with respect to age groups (P>0.05).

Table 5: Distribution of Infants with Suspected CHD based on Signs

In our study, most common sign was murmur seen in 110 (73.3%) followed by abnormal S2 that was seen in 89 (59.3%) of infants, followed by abnormal X-Ray seen in 87 (58.0%) and pallor was seen in 38 (25.3%) and abnormal ECG was seen in 34 (22.7%) of infants.

Table 6: Distribution of Infants based on Type of CHD

In our study, cyanotic CHD was seen in 37(24.7%) of infants, acyanotic CHD was seen in 103(68.6%) of infants and 10 (6.7%) cases had no CHD (normal)

Table 7: Age Wise Distribution of Type of CHD

In our study, among 37 cyanotic cases 27 (73%) of infants belonged to ≤28 days (neonates) and 7 (18.1%) of cases belonged to age group of 29 days to 6 months and 3 cases belonged to 7-12 months age group. Among 103 acyanotic cases, 19 (17.9%) of infants belonged to age group of ≤ 28 days, 43 (40.6%) of infants belonged to age group of 29 days to 6 months and 41 (39.8%) belonged to 7-12 months age group. Among 10 normal cases; 8 (80.0%) cases belonged to the age group of ≤ 28 days and 2cases belonged to 7-12 months and no cases above 6months of age. There was statistically highly significant difference of age between cyanotic, acyanotic and normal cases (P<0.001)

Table 8: Distribution of Infants based on Chest X-Ray and ECG Findings

In our study, abnormal X-Ray (cardiomegaly, pulmonary plethora, pulmonary oligemia, upturned apex, left atrial enlargement) was seen in 87(58%) of infants and abnormal ECG (first degree AV block, right and left atrial enlargement, prolonged PR interval, biventricular hypertrophy)was seen in 34(22%) of infants.

Table 9: Distribution of Dysmorphic and Phenotypically Normal Infants

In our study; out of 150 infants, 144 (96.0%) cases were phenotypically normal and 6 (4.0%) cases were dysmorphic.

CHD may be diagnosed at virtually any age. Certain conditions are usually discovered in neonate; rarely others are identified during infancy. Majority of infants with suspected CHD in our study belonged to ≤28 days (neonatal age group), that is 54 (36.0%), followed by 52 (34.7%) of infants belonged to the age group of 29 days-6 months and 44 (29.3%) of infants belonged to the group of 7 months-12 months. There is no much difference in number of CHD cases among different age groups of infants. In the study conducted by Rajkumar and coauthors found that 56.28% of patients were below 1 year of age including 20.47% of neonates⁵. In the study conducted by James et al. [6] 28 (74%) out of 38 children belonging to age <1 year age group had CHD. In the study conducted by M Kulandaivel et al. concluded that CHD is more common between 1 month and 1 year (45.9%). In their study, highest number of cases were seen in infancy which could be explained because of a large number of referrals from peripheral health center [7].

In our study most common symptom was hurried breathing seen in 125 (83.3%) of infants, followed by cyanosis seen in 81 (54.0%) and cough seen in 69 (46.0%) of infants. This goes in accordance with study done by Molaei A et al. in Iran where in respiratory distress (70%) was the most common complaint and cyanosis (24.4%) was the second most common complaint [8]. Similarly, Islam MN et al. found respiratory distress was the commonest symptom (71%) followed by cyanosis (26%) [9].

In our study, among neonates, hurried breathing was most common presenting symptom seen in 48(88.9%) followed by cyanosis seen in 34 (18.5%), which goes in accordance with study conducted by Rakesh Amroliwala et al. where in majority of neonates presented with breathing difficulty (61%), followed by feeding difficulty (52%), cyanosis (bluish discoloration) (7%) [10]. In 29 days -6 months age group, hurried breathing is most common symptom, seen in 41(78.8%), followed by cough seen in 36 (69.3%) and cyanosis seen in 28 (28.8%). In 7-12 months age group, hurried breathing seen in 36 (81.8%), cough seen in 33 (75.0%) and fever seen in 26 (59.1%). Hurried breathing was most common presenting symptom, as our study as well as study by majority included not only asymptomatic patients but also symptomatic cases presenting with cardiac failure, pneumonia etc.

Cardiac murmur is one of the most important finding to identify CHD, though the presence or absence of a murmur does not assure either the presence or absence of congenital heart disease. In our study most common sign was murmur, seen in 98 (66.6%) of infants followed by abnormal S2 seen in 89 (59.3%) of infants. This goes in accordance with study conducted by Rakesh Amroliwala et al. who found that commonest sign was murmur (75.71%) ¹⁰. In our study, abnormal S2 (fixed S2 splitting, soft S2 and loud S2)was second most common sign because there were more number of ASD cases either in isolation or as a part of complex heart disease.

Our Study observed that 37(24.7%) of infants had cyanotic type of CHD and 103 (68.6%) of infants had acyanotic CHD. This goes in accordance with study conducted by Amber Bashir Mir [8], where in 529 neonates were diagnosed with CHD of which 382 (72.2%) were acyanotic CHD and 147 (27.7%) were cyanotic CHD, and study by Shah et al. where in the cyanotic CHD constituted 31% and acyanotic 69% [11]. Similarly, in a study by Deo et al. 32.5% belonged to cyanotic CHD and 67.5% belonged to acyanotic CHD [12]. In the study conducted by Singh R et al. ¹³, acyanotic heart defects were seen in 141(70.1%) of cases, and cyanotic heart defects were seen in 60(29.8%). Similarly in the study conducted by Ravinder K Gupta ¹⁴, cyanotic heart defects were seen in 32 infants (32%) whereas acyanotic heart defects were seen in 68 infants (68%). Among the acyanotic, 77 were males and 64 were females, whereas in the cyanotic group, 33 were males and 27 were females. Similar distribution has been reported in all the literature with acyanotic heart disease more common than cyanotic heart disease [13]. In our study, cyanosis was obviously present in 30 cases whereas remaining 7 cases had desaturation without cyanosis.

In our study, among 37 cyanotic cases 27 (73%) of infants belonged to ≤28 days (neonates) and 7 (18.1%) of cases belonged to age group of 29 days to 6 months and 3 cases belonged to 7-12 months age group. Among 103 acyanotic cases, 19 (17.9%) of infants belonged to age group of ≤ 28 days, 43 (40.6%) of infants belonged to age group of 29 days to 6 months and 41 (39.8%) belonged to 7-12 months age group. In our study majority of cyanotic CHD cases were in neonatal age group (≤28 days), whereas majority of acyanotic CHD cases were in the age group of 7-12 months this is in contrast to study by Ravilala VK et al. [14] who found most of cyanotic CHD presented within 1^st week of life while acyanotic CHD presented in 4^th week of life .The age of presentation of CHD depends on the hemodynamic effect of the heart defect.

Our study found that, abnormal X-Ray was seen in 87(58%) of cases and abnormal ECG in 34 (22%) of infants, which is similar to Baltimore Washington infant study [114], abnormal ECG was found in 26 out of 150 children and all had CHD. Abnormal chest x-ray was present in 32 out of 150 children out of whom 23(72%) had CHD. Children with abnormal chest x-ray had no cardiomegaly clinically though x-ray demonstrated an increased cardiothoracic ratio.

• The mean age of infants was 5.32 months.
• Male to female ratio was 1.08:1.
• Most common symptom was hurried breathing seen in 125(83.3%) of infants followed by cyanosis seen in 81 (54%) and cough seen in 69(46%).
• In, ≤28 days age group hurried breathing is most common presenting symptom seen in 48(88.9%), followed by cyanosis and forehead sweating. In 29 days-6 months age group, hurried breathing is most common symptom, seen in 41(78.8%), followed by cough and cyanosis. In 7-12 months age group, hurried breathing seen in 36 (81.8%) followed by cough and fever.
• Most common sign was murmur seen in 110 (73.3%) followed by abnormal S2 that was seen in 89 (59.3%) of infants, followed by abnormal X-Ray seen in 87 (58.0%) and pallor was seen in 38 (25.3%) and abnormal ECG was seen in 34 (22.7%) of infants.

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