European Journal of Cardiovascular Medicine

Congenital Heart Disease is defined as an abnormality in ‘cardio-circulatory’ structure or function which is present right from the birth, even though if it might be detected in latter part of life. One of the significant groups of pediatric illness and major cause of mortality and morbidity in childhood are congenital heart diseases.

In India, around 1,80,000 children are born with congenital heart disease every year as per the estimated incidence rate of eight per thousand live births.¹ As far as clinical manifestations of congenital heart disease are concerned, it may be asymptomatic and detected coincidentally by a murmur as a part of a regular checkup or can manifest with symptoms like breathlessness, suck rest suck cycle, cyanotic spells, clubbing to a severe congestive cardiac failure.

The prevalence of congenital heart disease in young adults is consistently increasing as a very few of them get appropriate intervention at the right time. High risk of mortality and morbidity of congenital heart disease can be avoided by early diagnosis of congenital heart diseases with various newer modalities like electrocardiography, 2D echocardiography, cardiac MRI, color doppler echocardiography and angiography, accurate detection of congenital anomaly of heart is made easy. In the present study, we aimed to study spectrum of congenital heart diseases in children at a tertiary care hospital of Western Maharashtra.

The present study is Cross-sectional Descriptive Study, conducted in Department of Pediatrics, at Bharati Vidyapeeth Hospital, Sangli, Maharashtra, India. The Period of Study conducted was from 1st January 2018 to 31st July 2019. The study was initiated after obtaining the requisite approval from the Institutional Ethics Committee.

Inclusion criteria

• Children diagnosed as congenital heart disease (old as well as newly diagnosed cases) of age 1 month to 15 years visiting Paediatric OPD as well as admitted in Paediatric ward and Paediatric Intensive Care Unit.
• Children having congenital anomalies and dysmorphic features were also included.

Exclusion criteria

• Child diagnosed as Acquired cardiac diseases.
• Refusal of Informed Consent/ Ascent.
• Children with mitral valve prolapse, bicuspid aortic valve and Patent Ductus Arteriosus of prematurity.
• Children who succumb before the diagnosis was

Written consent/ascent was taken from the guardian of each of the child included in this study. After including the child in this study, a thorough detailed history (breathlessness, suck-rest-suck cycle, bluish discoloration of lips and nails, failure to thrive, recurrent respiratory tract infections, cyanotic spells and history suggestive of infective endocarditis, cortical venous thrombosis or cerebral abscess) of the child was obtained

Family history of congenital heart diseases was noted. Then a detailed dietary history was obtained as per 24 hours recall method. -The calories and protein deficit were calculated.

Anthropometry of the child was precisely measured (Length/height was measured with an infantometer /stadiometer and weight was measured by digital weighing scale for every child and for child below 5 years of age; head circumference, chest circumference and mid-arm circumference were measured with a non-stretchable measuring tape). Then the nutritional status of the child was assessed and classified as per the WHO growth charts (<5 years) and IAP growth charts (5-15 years).

A detailed general examination which comprises of vital parameters, presence of cyanosis, clubbing, edema, signs of congestive cardiac failure, obvious congenital anomalies and dysmorphic features was done. Cardiac examination was performed and all the cardiac findings which comprises hyperdynamic precordium, palpable thrills, murmurs, S₃ gallop and abnormal heart sounds were noted in a prescribed proforma.

If history and examination findings were suggestive of congenital heart disease, then the child was subjected to electrocardiogram and chest radiography. The child is considered to have cardiomegaly if cardio-thoracic ratio in chest radiography was more than 0.5. Then the clinical assessment of the child was done using Nada’s criteria to ensure the presence of heart disease before performing a 2-D echocardiography. Data was collected and compiled using Microsoft Excel, analyzed using SPSS 23.0 version. Frequency, percentage, means and standard deviations (SD) were calculated for the continuous variables, while ratios and proportions were calculated for the categorical variables.

Study conducted over a period of 18 months in which 50 children diagnosed to have congenital heart disease were enrolled in this study. Majority children belonged to the age group of 1 month to 12 months (56 %), followed by group more than 1 year to 5 years (30 %) and age more than 5 years to 15 years (14 %). Male to female ratio was 1: 1.1.

58 % of the children had undernutrition as per WHO (<5 years) or IAP (>5 years) and 42 % of the children had normal nutritional status. The predominant type of congenital heart diseases in our study was acyanotic congenital heart diseases (74 %) and rest of the 26 % of congenital heart diseases were cyanotic heart diseases.

Table 1- General characteristics

Breathlessness (72 %) was the most common symptom in children with congenital heart disease followed by fever (58 %) and failure to thrive (44 %). The next in order of frequency were cough (38 %), recurrent respiratory tract infections (36%), suck rest suck cycle (36 %), cyanotic spells (12 %) and squatting (10 %).

Table 2- Frequency of symptoms in CHD.

In the age group of 1 month to 5 years, 32.55% of the children with congenital heart diseases had severe acute malnutrition and 25.58 % had moderate acute malnutrition as per WHO classification. Amongst the children with acyanotic heart diseases belonging to the age group of 1 month – 5 years, 58.83 % of children had under-nutrition according to WHO classification. When further subdivided on the basis of degree of undernutrition, 26.47 % of the children had moderate undernutrition and 32.35 % of the children had severe malnutrition. Further breakdown of the statistics revealed that 44.11% of the children had wasting and 38.23 % of children had stunting.

Amongst children with cyanotic heart diseases belonging to the age group of 1 month – 5 years, 55.55 % of the children had undernutrition. Stunting (55.55%) was more common than wasting (33.34%) in cyanotic heart diseases among this age group.

Table 3- Pattern of undernutrition in chd of age group 1 month–5 years. (n=43)

Among children with congenital heart diseases belonging to the age group of more than 5 years to 15 years, 57.14 % of children had undernutrition according to IAP classification. When further subdivided on the basis of degree of undernutrition, PEM grade I and PEM grade III were 28.5 % each.

Table 4- Pattern of undernutrition in CHD of age group 5 years to 15 years (n=7).

The most frequent finding on physical examination was pallor (76 %) followed by tachypnoea (60%) and tachycardia (56 %). The rest of the commonly found physical examination findings were cyanosis (24 %), oedema (20 %) and clubbing (16%).

Table 5- Frequency of general examination findings in CHD.

Ejection systolic murmur (42 %) was the most common heard murmur in our study followed by pansystolic murmur (34 %) and continuous machinery murmur (12 %). The other common cardiovascular examination findings were thrill (40 %), S₃ gallop (38 %), precordial bulge (26 %) and loud P₂ (20 %). In our study, 38% of children with congenital heart disease presented in congestive cardiac failure and rest of the 62 % were without any signs of heart failure.

Table 6- Frequency of cardiovascular examination findings in CHD.

In our study, 58% of the children with congenital heart diseases had abnormalities in ECG. The most common ECG abnormality in our study was RVH (38 %) followed by LVH (18 %).

Table 7 – Electrocardiogram findings in CHD.

In our study, 56 % of children with congenital heart diseases had significant cardiomegaly (cardiothoracic ratio>0.5) in chest radiography.

Table 8- Frequency of cardiomegaly in CHD.

Among acyanotic heart diseases, the isolated ASD (36%) was the most common congenital heart diseases followed by isolated VSD (16%) and isolated PDA (6%) in our study. The other common acyanotic heart diseases involving multiple cardiac anomalies in our study were PDA associated with ASD (6 %) and pulmonary stenosis with VSD (4 %).

The most common congenital cyanotic disease in our study was tetralogy of fallot (30.7% of cyanotic heart diseases) followed by DORV (23% of cyanotic heart diseases) and pulmonary atresia (15.3% of cyanotic heart diseases). Most of the cyanotic heart diseases were associated with other cardiac defects like VSD, ASD, PDA, etc.

Table 9- Spectrum of congenital heart diseases diagnosed by 2-d echocardiography.

In our study, 28% of children with congenital heart disease had pulmonary arterial hypertension. When children with PAH were further classified, 12 % had mild PAH, 10 % had moderate PAH and 6 % had severe PAH. Rest of the 72 % of children in our study had normal pulmonary arterial mean pressure.

Table 11- Frequency of pulmonary arterial hypertension (PAH) in CHD.

In the present study, maximum frequency of the congenital heart diseases was observed in age group of 1- 12 months (56 %) followed by 1- 5 years (30 %). Our study matches with Ibadin MO et al.,² who reported 46.9 % of congenital heart diseases within 1^st year of life. Kula S et al.,³ also had similar findings of 39.3 % of infants with congenital heart diseases less than 1 year.

Most of the heart diseases manifest in infancy itself because of dramatic haemodynamic changes like fall in pulmonary vascular resistance in first few months of life. The fall in pulmonary vascular resistance leads to increased left to right shunting through cardiac defects and thus presenting with symptoms of heart failure

In our study, congenital heart disease was almost equally prevalent in both male and female with ratio of 1:1.1. Tefurani et al.,⁴ reported male to female ratio of 1:1 which correlates with our study. However, higher predominance of male (59.7 %) over female with ratio of male to female of 1.5:1 was reported in Mughal AR et al.,⁵

In our study, the most common symptomatic presentations of congenital heart diseases were breathlessness/ rapid breathing (72 %) followed by fever (58 %), failure to thrive (44 %), cough (38 %), recurrent respiratory infections (36 %), suck rest suck cycle (36 %), cyanotic spells (12 %) and squatting episodes (10 %).

Study conducted by Tank et al.,⁶ had results which were similar to our study with breathlessness being the most common symptom (74.83%) followed by LRTI (44.89 %) and failure to thrive (38.77 %), Suraj Gupte et al.,⁷ in his study conducted in Jammu and Kashmir also had the common presenting symptoms in order of breathlessness (45.8%) followed by failure to thrive (36.66%) and recurrent respiratory tract infections (35.77%).

Our study revealed a significantly high prevalence of undernutrition (58 %) in congenital heart diseases. 32.55 % of children with congenital heart disease below 5 years had severe acute malnutrition (SAM). Study by Hassan BA et al.,⁸ also noted higher prevalence of undernutrition (84 %) in congenital heart diseases with 71.4 % accounting for severe acute malnutrition. However, in a study conducted in South India by Vaidyanathan et al.,⁹ and his associates had noted a prevalence of undernutrition at 59 % which is similar to our study.

Ejection systolic murmur (42 %) was the most frequent murmur heard followed by pansystolic murmur (34 %) and continuous machinery murmur (12 %). The other frequent cardiac findings were thrill (40 %), S3 gallop (38 %), precordial bulge (26 %) and loud P2 (20 %). Raghavaiah PV et al.,¹⁰ study revealed thrill (50 %) as the most common cardiac finding followed by precordial bulge (24 %) and palpable P2 (18.5 %).

Ejection systolic murmur was the most commonly heard murmur in our study as the commonest type of congenital heart disease was ASD (37.5 %) and ejection systolic murmur was heard in all (100 %) cases of Tetralogy of Fallot which is similar with Naik et al.,¹¹ and 77.8 % of isolated ASD cases had ejection systolic murmur which is similar with Siddique at al.,¹² Pansystolic murmur was heard in 100% cases of all VSDs which is consistent with Keith et al.,¹³ Continuous machinery murmur was appreciated in 100 % cases of PDA which is consistent with Siddique et al.,¹⁴

According to our study, 38 % of children with congenital heart disease presented in congestive cardiac failure. In a study conducted by Domkundwar SV et al.,¹⁴ 36 % of children with congenital heart diseases presented in congestive cardiac failure which is similar to our observation. Harshangi et al.,¹⁵ also reported that 56 % of children with congenital heart diseases presented in congestive cardiac failure.

In our study, 58 % of congenital heart diseases had abnormalities in ECG. The most common ECG abnormality in our study was RVH (38 %) followed by LVH (18 %) and 42 % of children had near normal ECGs. On the contrary, Raghavaiah PV et al.,¹⁵ in his study had reported LVH (38.9 %) as the commonest ECG finding followed by RVH (14.8 %).

Few of the most common causes of RVH pattern in congenital heart disease are pulmonary artery hypertension and large ostium secundun (ASD). In our study, there were higher prevalence of PAH (42%) and ASD (36 %) which could very well explain the significantly higher prevalence of RVH in our study.

Twenty eight of fifty cases (56 %) of congenital heart diseases had cardiomegaly in congenital heart diseases. Study by Raghavaiah PV et al.,¹⁵ also noted 40.7 % of cardiomegaly in congenital heart diseases.

Acyanotic heart diseases account for 74 % of congenital heart diseases in our study with an acyanotic to cyanotic ratio of 2.8:1. Vyas et al.,¹⁶ also reported prevalence of acyanotic CHD as 73.53 % and cyanotic CHD as 26.47 %. Raghavaiah PV et al.,¹⁵ had noted higher prevalence of acyanotic congenital heart disease (90.7 %) in their study. Isolated atrial Septal Defect (36 %) was the commonest congenital heart disease in our study. Followed by ASD, isolated ventricular septal defect (16 %), tetralogy of fallot (8 %) and patent ductus arteriosus (6 %) were the other commonly occurring congenital heart diseases.

Raghavaiah PV et al.,¹⁵ also noted ASD (24.1 %) as the most commonly occurring CHD followed by VSD (16.7 %) in their study. A Nepalese study by Manbahadur et al.,¹⁷ also concluded ASD for maximum of 50 % cases. In a study conducted by Sukhendu Shekhar Sen et al.,¹⁸ also reported ASD (35.7 %) as the commonest CHD followed by VSD (28.4 %). Rahman et al.,¹⁹ also noted ASD (39.9%) as commonest congenital heart lesion followed by VSD (28.4%) and TOF (28.6%).

But majority of the studies reported VSD as the most common congenital heart defect followed by ASD and PDA. Studies by Alabdulgader AAA²⁰ and Smitha R²¹ et al. had found VSD as the most common CHD with 39.5% and 40.47 % respectively. A study conducted by Bhat et al.,²² also reported VSD (30.4%) as the most common CHD followed by ASD (17.63 %) and PDA (9.62 %). In our study, significant number of children were admitted in hospital for some other disease pathology and were diagnosed coincidently during routine cardiac examination which were later confirmed by 2-D Echocardiography.

Most of the times, children with ASD are generally asymptomatic and manifest as soft murmurs which are often overlooked. Hence, early diagnosis of ASD is seldom done and often diagnosed in adulthood. Hence, the accurate incidence of the ASD is often underestimated. Few studies like Domkundwar SV et al.,¹⁴ which concluded VSD as the most common CHD included isolated VSDs and as well VSDs associated with cyanotic heart diseases like tetralogy of fallot, pulmonary, tricuspid atresia, DORV, atrio- ventricular canal defects, etc. This might also be a reason for overestimation of incidence of VSDs in few studies.

Among cyanotic heart disease, TOF (30.7 % of cyanotic heart diseases) was the commonest followed by DORV (23 % of cyanotic heart diseases) and Pulmonary atresia (15.3 % of cyanotic heart diseases). Patra²³ et al. conducted a study which had similar revelations of TOF being the commonest cyanotic CHD constituting 44 % of total cyanotic CHD followed by DORV (14 % of cyanotic CHD). Shekhar Sen et al.²⁴ also reported TOF as the commonest cyanotic CHD (29.1 % of cyanotic CHD) followed by Single ventricle (12.9 % of cyanotic CHD) and transposition of great vessels (9.9% of cyanotic CHD).

In our study, 28 % of children with congenital heart diseases had pulmonary hypertension of which 6 % of children had severe pulmonary hypertension and 10% of children had moderate pulmonary hypertension. In study conducted by Sharmin LS²⁵ et al., 13 % of children with congenital heart disease had pulmonary hypertension.

Limited studies are available which emphasizes on the frequency of pulmonary hypertension in paediatric age group with congenital heart diseases. Being a tertiary care hospital in Sangli, we received many referrals of congenital heart disease complicated by pulmonary hypertension which required PICU admission. This could be a plausible reason for relatively high frequency of pulmonary hypertension in our study compared to other studies.

Congenital heart diseases are one of the major congenital anomalies and a leading cause of mortality in paediatrics. Majority of the congenital heart diseases are correctable due to recent advances in percutaneous interventional procedures and evolution of definitive surgical procedures. Hence, early diagnosis plays a significant role in improving the quality of life in the children with congenital heart diseases as well lessen the burden of congenital heart diseases on the society.

Conflict of Interest: None to declare

Source of funding: Nil

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