Burden of congenital heart diseases in a tertiary cardiac care institute in Western India: Need for a national registry

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1 Original Article Burden of congenital heart diseases in a tertiary cardiac care institute in Western India: Need for a national registry ABSTRACT Objective: Congenital heart disease (CHD) is very common disease, and it is the major cause of childhood mortality and morbidity. Not much of Indian data are available particularly from the western part of the country. There are needs to further explicate the spectrum and epidemiology of the CHD. Materials and Methods: This retrospective study collected data of the paediatric patients received in our institute from January 2016 to June All simple and complex congenital anomalies diagnosed on echocardiography were included in our study. Results: Of total 22,275 cases, CHDs were diagnosed in 9728 cases with a male to female ratio of 1:0.6. Most CHDs (62.77%) were diagnosed between 1 month and 6 years of age. Incidence of cyanotic CHD was 27.14% and acyanotic CHDs was 72.86% with a ratio of cyanotic to acyanotic CHD being 1:2.7. Ventricular septal defect (26.24%) was the most common acyanotic CHD found followed by 2089 patients of atrial septal defect. Tetralogy of Fallot (13.57%) was the most common cyanotic CHD found followed by double outlet right ventricle in 276 patients (2.84%). Conclusions: Ours is the largest Indian study till date in this spectrum which yielded new data on the epidemiology, incidence, and prevalence of CHD. Majority of the patients with CHD had acyanotic CHD with most common anomaly being ventricular septal defect. Tetralogy of Fallot was the most common cyanotic defect. This study will increase awareness in the people with a family history of CHD and health care providers and will assist in early diagnosis. Keywords: Acyanotic, congenital heart disease, cyanotic, spectrum INTRODUCTION Congenital heart disease (CHD) (con, together; genitus, born) is a group of gross structural abnormalities that are present at birth. Congenital malformations of the heart and circulation are not fixed anatomic defects that appear at birth but instead are anomalies in flux that originate in the early embryo, evolve during gestation, survive the dramatic circulatory alterations at birth, and change considerably during extrauterine life. [1] Congenital heart defects are the most common type of congenital disability, which constitutes an important group of pediatric illness and major cause of childhood mortality and morbidity. [2] Different genetic, environmental, and medical factors affect the CHDs worldwide. CHDs are primarily seen in neonates, infants, and children even though it is also seen in adults with undiagnosed and uncorrected CHD. The prevalence of CHD is not uniform across the country and varies from 0.8 to 5.2/1000 patients in community based studies [3,4] while the prevalence ranges between 3.9 and 26.4/1000 live births in hospital based studies in India, which is not uniform across the country. [3 8] Ten percent of the present infant death may be accounted for by CHD. [5] They affect eight out of every 1000 newborns. [9] It is very difficult to calculate the prevalence of CHD due to home Pooja M Vyas, Nilesh K Oswal 1, Iva V Patel 2 Departments of Cardiology, 1 Pediatric Cardiology and 2 Research, UN Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Ahmedabad, Gujarat, India Address for correspondence: Dr. Pooja M Vyas, Department of Cardiology, UN Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad , Gujarat, India. E mail: poojavyaskothari@gmail.com Website: Access this article online Quick Response Code This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution NonCommercial ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: reprints@medknow.com DOI: /heartindia.heartindia_3_18 How to cite this article: Vyas PM, Oswal NK, Patel IV. Burden of congenital heart diseases in a tertiary cardiac care institute in Western India: Need for a national registry. Heart India 2018;6: Heart India Published by Wolters Kluwer Medknow 45

2 deliveries and unavailability of routine neonatal screening. Among CHD, two third are acyanotic CHDs and the rest are cyanotic CHDs. With the improvement of pediatric cardiac care, their survival to adulthood has increased. Majority of acyanotic CHD are potentially correctable due to the evolution in percutaneous interventional therapies without exposing the patients to an open surgical procedure in early life. Only few studies from India have addressed the overall childhood spectrum (0 18 years) of CHD. [10 12] There are no studies on pattern of CHD from western part of India. No study from Gujarat, India, has yet addressed the issue. We aimed to study the burden and pattern of CHD in children under 18 years of age in Western India. Our study will help to establish the baseline data to study further and will also provide the incidence of disease in our country. MATERIALS AND METHODS Study Population We retrospectively had taken the data of the pediatric patients of 0 18 years of age from Medical Record Department of U. N. Mehta Institute of Cardiology and Research Centre, Ahmedabad, from January 2016 to June CHDs were screened by echocardiography. The pediatric patients were divided into two groups according to the type of CHD, cyanotic and acyanotic CHD. Congenital disease in a definition is a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance. In cyanotic CHD, we included patients with SpO 2 <90%. We considered the patients in cyanotic and acyanotic group based on Table 1. Study criteria Only patients with hemodynamically significant patent ductus arteriosus which required active intervention were included in the study. Bicuspid aortic valve with either stenosis or regurgitation were included in the study. Bicuspid aortic valve without aortic stenosis or aortic regurgitation were not included in the study. Significant associated cyanotic anomalies were considered as complex diseases. RESULTS Table 2 shows the baseline presentation of population. A total of 22,275 new cases attended tertiary cardiac care institute between January 2016 and June The total number of CHDs diagnosed was 9728 (43.67%) out of 22,275 cases. Around 36 congenital heart anomalies were diagnosed in our population. CHDs were more common among the male 5898 (60.63%) with a male to female ratio was (1:0.6). In our Table 1: Classification of congenital heart diseases Cyanotic congenital heart disease TOF DORV with VSD and PS DORV with transposed great vessels d TGA TA TAPVC SVP Truncus arteriosus PA Ebstein anomaly Eisenmenger s syndrome AVSD with pulmonary stenosis CCTGA with VSD and PS Mitral atresia Pulmonary AV fistula Table 2: Baseline presentation of population (n=9728) Type of CHD n (%) Cyanotic 2640 (27.14) Acyanotic 7088 (72.86) Gender Male 5898 (60.63) Female 3830 (39.37) Age Acyanotic congenital heart disease ASD VSD PDA Bicuspid aortic valve AVSD Valvular pulmonary stenosis CCTGA Supravalvular pulmonary stenosis Coarctation of aorta PAPVC APW Infundibular pulmonary stenosis Subaortic membrane ALCAPA Supravalvular aortic stenosis Coronary cameral fistula Congenital mitral stenosis Interrupted aortic arch Dysplastic aortic valve Double aortic arch Cor triatriatum TOF: Tetralogy of fallot, ASD: Atrial septal defect, DORV: Double outlet right ventricle, VSD: Ventricular septal defect, Pulmonary stenosis, PDA: Patent ductus arteriosus, TA: Tricuspid atresia, D TGA: D transposition of great arteries, AVSD: Atrio ventricular septal defect, TAPVC: Total anomalous pulmonary venous connection, SVP: Single ventricular physiology, CCTGA: Congenitally corrected transposition of the great arteries, PA: Pulmonary atresia, APW: Aorto pulmonary window, PAPVC: Partial anomalous pulmonary venous connection, PS: Pulmonary stenosis, ALCAPA: Anomalous left coronary artery from pulmonary artery, AV: Arteriovenous 0 28 days 770 (7.92) 1 month 1 year 2815 (28.94) 1 6 years 3291 (33.83) 6 12 years 1763 (18.12) years 1089 (11.19) study, most CHDs (n = 6106, 62.77%) were diagnosed between 1 month and 6 years of age. Incidence of cyanotic CHD was 2640 (27.14%) and acyanotic CHDs was 7088 (72.86%), with cyanotic to acyanotic ratio of 1:2.7. Age wise distribution of congenital heart disease Tables 3 and 4 show the pattern of CHDs identified at different age group. In age wise distribution, we found that most diseases were diagnosed between 1 month and 46 Heart India / Volume 6 / Issue 2 / April-June 2018

3 Table 3: Age wise distribution of cyanotic congenital heart diseases Diagnosis 0 28 days 1 month 1 year 1 6 years 6 12 years years Cyanotic TOF DORV TAPVC d TGA Tricuspid atresia Truncus arteriosus AVSD with pulmonary stenosis Pulmonary atresia Ebstein anomaly CCTGA with VSD and PS Mitral atresia Single ventricular physiology Eisenmenger s syndrome TOF: Tetralogy of Fallot, DORV: Double outlet right ventricle, TAPVC: Total anomalous pulmonary venous connection, D TGA: D transposition of great arteries, AVSD: Atrioventricular septal defect, CCTGA: Congenitally corrected transposition of the great arteries, VSD: Ventricular septal defect, PS: Pulmonary stenosis Table 4: Age wise distribution of acyanotic congenital heart diseases Diagnosis 0 28 days 1 month 1 year 1 6 years 6 12 years years ASD VSD PDA AVSD AP window Bicuspid aortic valve Valvular pulmonary stenosis CCTGA Supravalvular pulmonary stenosis Subaortic membrane Coarctation of aorta Congenital mitral stenosis 2 4 Double aortic arch 1 2 ALCAPA 4 5 Dysplastic aortic valve Infundibular pulmonary stenosis 7 8 Supravalvular aortic stenosis 2 5 Coronary cameral fistula 3 3 PAPVC Interrupted aortic arch 3 1 ASD: Atrial septal defect, VSD: Ventricular septal defect, AVSD: Atrioventricular septal defect, PDA: Patent ductus arteriosus, AP: Aorto pulmonary window, CCTGA: Congenitally corrected transposition of the great arteries, ALCAPA: Anomalous left coronary artery from pulmonary artery, PAPVC: Partial anomalous pulmonary venous connection 6 years of age in both cyanotic and acyanotic disease groups. The most common cyanotic and acyanotic CHDs were also found between the age of 1 month and 6 years. Totally, 1320 cases of tetralogy of Fallot were diagnosed, out of which most cases 957 (72.5%) were diagnosed between the age of 1 month and 6 years. 159 (57.60%) cases out of 276 total cases of double outlet right ventricle were identified between the age of 1 month and 6 years. Maximum cases of atrial septal defect, ventricular septal defect, and patent ductus arteriosus were diagnosed between ages of 1 month and 6 years. Cyanotic congenital heart disease Simple and complex cyanotic CHDs have been shown in Tables 5 and 6. In the simple cyanotic CHDs, 2493 (25.63%) cases were diagnosed. Out of different types of simple cyanotic CHDs, tetralogy of Fallot (n = 1320, 13.57%) was most prevalent. Other cyanotic CHDs found in our study were double outlet right ventricle (2.84%), d transposition of great arteries (2.51%), tricuspid atresia (1.93%), total anomalous pulmonary venous connection (1.71%), single ventricular physiology (0.68%), truncus arteriosus (0.67%), pulmonary atresia (0.47%), Ebstein anomaly (0.45%), Heart India / Volume 6 / Issue 2 / April-June

4 Table 5: Distribution of cyanotic congenital heart diseases Diagnosis n (%) TOF 1320 (13.57) DORV 276 (2.84) DTGA 244 (2.51) TA 188 (1.93) TAPVC 166 (1.71) SVP 66 (0.68) Truncus arteriosus 65 (0.67) PA 46 (0.47) Ebstein anomaly 44 (0.45) Eisenmenger s syndrome 26 (0.27) AVSD with pulmonary stenosis 20 (0.21) CCTGA with VSD and pulmonary stenosis 17 (0.17) Mitral atresia 13 (0.13) Pulmonary AV fistula 02 (0.02) TOF: Tetralogy of Fallot, DORV: Double outlet right ventricle, TA: Tricuspid atresia, D TGA: D transposition of great arteries, TAPVC: Total anomalous pulmonary venous connection, SVP: Single ventricular physiology, PA: Pulmonary atresia, AVSD: Atrioventricular septal defect, CCTGA: Congenitally corrected transposition of the great arteries, VSD: Ventricular septal defect, AV: Arteriovenous Table 6: Distribution of complex cyanotic congenital heart diseases Complex cyanotic CHDs n=147; 1.51 n (%) AVSD with pulmonary stenosis + DORV 29 (0.30) Single aortic outlet right ventricle with pulmonary atresia 21 (0.22) AVSD + pulmonary atresia 8 (0.08) Tricuspid atresia + DORV 8 (0.08) AVSD + DORV 7 (0.07) DORV + single ventricular physiology 07 (0.07) Pulmonary atresia + single ventricular physiology 7 (0.07) Mitral atresia + DORV 5 (0.05) TAPVC + AVSD with pulmonary stenosis + DORV 5 (0.05) DORV + mitral atresia 4 (0.04) DORV + pulmonary atresia + AVSD 4 (0.04) Pulmonary atresia + CCTGA 4 (0.04) TAPVC + DORV 3 (0.03) Mitral atresia + pulmonary atresia 3 (0.03) CCTGA pulmonary stenosis + DORV 2 (0.02) DORV + AVSD 2 (0.02) TAPVC + single ventricular physiology 2 (0.02) DILV + AVSD 2 (0.02) Mitral atresia + single ventricular physiology 2 (0.02) AVSD + pulmonary atresia 2 (0.02) d TGA + pulmonary atresia 2 (0.02) Pulmonary atresia + single ventricular physiology + mitral atresia 2 (0.02) Other complex associated cyanotic CHDs 16 (0.16) CHDs: Congenital heart diseases, DORV: Double outlet right ventricle, AVSD: Atrioventricular septal defect, TAPVC: Total anomalous pulmonary venous connection, CCTGA: Congenitally corrected transposition of the great arteries, DILV: Double inlet left ventricle, D TGA: D transposition of great arteries Eisenmenger s syndrome (0.27%), atrioventricular septal defect with pulmonary stenosis (0.21%), congenitally corrected transposition of the great arteries with ventricular septal defect and pulmonary stenosis (0.17%), mitral atresia (0.13%), and pulmonary arteriovenous fistula (0.02%) in the descending order of their prevalence in our study. Complex cyanotic CHDs were found in 147 (1.51%) patients. Commonly found complex cyanotic CHDs were atrioventricular septal defect with pulmonary stenosis + double outlet right ventricle and single aortic outlet right ventricle with pulmonary atresia. Other cyanotic defects such as atrioventricular septal defect, mitral atresia, pulmonary atresia, double outlet right ventricle, total anomalous pulmonary venous connection, double inlet left ventricle, single ventricular physiology, d transposition of great arteries, tetralogy of Fallot, and Ebstein anomaly were also found in association with other CHDs. Acyanotic congenital heart disease Distribution of different acyanotic CHDs is presented in Tables 7 and 8. Ventricular septal defect (26.24%) was the most common acyanotic CHD found in our study. In the acyanotic CHD group, after ventricular septal defect, atrial septal defect 2089 (21.47%) and patent ductus arteriosus 813 (8.36%) were the commonly occurring CHDs. Other acyanotic CHDs were bicuspid aortic valve (1.97%), atrioventricular septal defect (1.75%), valvular pulmonary stenosis (1.66%), congenitally corrected transposition of the great arteries (0.38%) supravalvular pulmonary stenosis (0.37%), coarctation of aorta (0.27%), partial anomalous pulmonary venous connection (0.25%), aortopulmonary window (0.16%), infundibular pulmonary stenosis (0.15%), subaortic membrane (0.15%), anomalous left coronary artery from pulmonary artery (0.09%), supravalvular aortic stenosis (0.07%), coronary cameral fistula (0.06%), congenital mitral stenosis (0.06%), interrupted aortic arch (0.04%), dysplastic aortic valve (0.03%), and double aortic arch (0.03%) in the descending order of their prevalence in our study. In 900 (9.25%) patients, >1 acyanotic congenital heart defects were identified. Atrial septal defect, ventricular septal defect, and patent ductus arteriosus were most often found in association with other type of heart anomaly. Atrial septal defect was found in association with valvular pulmonary stenosis, bicuspid aortic valve, supravalvular pulmonary stenosis, and infundibular pulmonary stenosis. Other associated defects such as valvular pulmonary stenosis, bicuspid aortic valve, and coarctation of aorta were also found in patients with ventricular septal defect. Patent ductus arteriosus was found associated with valvular pulmonary stenosis, bicuspid aortic valve, and atrioventricular septal defect in many cases. DISCUSSION There are only few Indian studies which show the pattern and prevalence of CHD. This is the largest cardiac hospital based 48 Heart India / Volume 6 / Issue 2 / April-June 2018

5 Table 7: Distribution of acyanotic congenital heart diseases Diagnosis n (%) VSD 2553 (26.24) ASD 2089 (21.47) PDA 813 (8.36) Bicuspid aortic valve 192 (1.97) AVSD 172 (1.77) Valvular pulmonary stenosis 162 (1.67) CCTGA 37 (0.38) Supravalvular pulmonary stenosis 36 (0.37) Coarctation of aorta 26 (0.27) PAPVC 24 (0.25) APW 16 (0.16) Infundibular pulmonary stenosis 15 (0.15) Subaortic membrane 15 (0.15) ALCAPA 9 (0.09) Supravalvular aortic stenosis 7 (0.07) Coronary cameral fistula 6 (0.06) Congenital mitral stenosis 6 (0.06) Interrupted aortic arch 4 (0.04) Dysplastic aortic valve 3 (0.03) Double aortic arch 3 (0.03) VSD: Ventricular septal defect, ASD: Atrial septal defect, PDA: Patent ductus arteriosus, AVSD: Atrioventricular septal defect, CCTGA: Congenitally corrected transposition of the great arteries, PAPVC: Partial anomalous pulmonary venous connection, APW: Aortopulmonary window, ALCAPA: Anomalous left coronary artery from pulmonary artery study from Western India reporting the spectrum of CHDs presented to our institute. Out of 1000 referred patients, 442 children had CHD making the prevalence of diagnosed CHD of 44.24%. Our institute is the only tertiary care institute in the Gujarat; hence, this large prevalence in our institute can be explained due to large number of referrals from peripheral health centers. Most of CHDs were diagnosed between 1 month and 6 years (62.77%), which is comparable to other studies. [13,14] The highest number of cases was seen between 1 month and 6 years of age which could be because of a large number of referrals from peripheral health center and increasing use of echocardiography. In our study, CHDs were more common among the male 5898 (60.63%), with a male to female ratio of 1:0.6. Our study shows that the male preponderance which is similar to other studies showed male to female ratio of 1.78:1 and 2.08:1, respectively. [15 17] This male dominance pattern could be due to Indian social and cultural factors. Neglect, differential treatment, or poor access to health care facilities is putting girls at disadvantages. Moreover, this could be the reason for less female child seeking the health care facilities. In the present study, incidence of cyanotic CHD was 2575 (26.47%) and acyanotic CHDs was 7153 (73.53%) with Table 8: Distribution of associated acyanotic congenital heart diseases Associated acyanotic CHDs n=900; 9.25 n (%) ASD + VSD 251 (2.58) ASD + PDA 193 (1.98) VSD + PDA 102 (1.05) VSD + valvular pulmonary stenosis 40 (0.41) Sinus venosus ASD + PAPVC 38 (0.39) ASD + VSD + PDA 33 (0.34) ASD + valvular pulmonary stenosis 31 (0.32) VSD + supravalvular pulmonary stenosis 25 (0.26) PDA + bicuspid aortic valve 16 (0.16) ASD + supravalvular pulmonary stenosis 15 (0.15) Supravalvular pulmonary stenosis + VSD + PDA 14 (0.14) VSD + infundibular pulmonary stenosis 14 (0.14) VSD + bicuspid aortic valve 14 (0.14) PDA + coarctation of aorta 12 (0.12) ASD + VSD + pulmonary stenosis 7 (0.07) PDA + valvular pulmonary stenosis 6 (0.06) PDA + AVSD 6 (0.06) PDA + Supravalvular pulmonary stenosis 6 (0.06) ASD + VSD + coarctation of aorta 6 (0.06) VSD + PDA + coarctation of aorta 5 (0.05) Coarctation of aorta + bicuspid aortic valve 5 (0.05) ASD + bicuspid aortic valve 4 (0.04) OS ASD + PAPVC 4 (0.04) Other associated acyanotic diseases 53 (0.54) ASD: Atrial septal defect, PDA: Patent ductus arteriosus, AVSD: Atrioventricular septal defect, CCTGA: Congenitally corrected transposition of the great arteries, PAPVC: Partial anomalous pulmonary venous connection, APW: Aortopulmonary window, ALCAPA: Anomalous left coronary artery from pulmonary artery, VSD: Ventricular septal defect, OS: ostium secundum a cyanotic to acyanotic ratio of 1:2.8. Ventricular septal defect (26.24%) was the most common CHD found in our study. In acyanotic CHD, after ventricular septal defect, atrial septal defect 2089 (21.47%) and patent ductus arteriosus 813 (8.36%) were the commonly occurring CHDs. Our results are in line with the study done by Bhat et al., who stated that ventricular septal defect was most common in 30.4% patients, followed by atrial septal defect in 17.63% and patent ductus arteriosus in 9.62%. [11] As we have included newborns in our study, the incidence of ventricular septal defect is much higher. This incidence of ventricular septal defect actually overestimates the true hemodynamically significant burden. Patients with atrial septal defect are usually asymptomatic in early age, and as they produce soft murmurs, these defects frequently do not lead to early diagnosis. Hence, the incidence of atrial septal defect in childhood actually underestimates the true incidence. Atrioventricular septal defect is more frequent in those with trisomy 21. Moreover, due to therapeutic abortions performed in trisomy 21, actual incidence of atrioventricular septal defect at term is less (1.75%) in our study. Bicuspid aortic valves are very Heart India / Volume 6 / Issue 2 / April-June

6 important due to late complications such as progressive stenosis or incompetence and infective endocarditis. In our study, we found 192 cases (1.97%) of bicuspid aortic valves with either regurgitation or stenosis. Tetralogy of Fallot (n = 1320, 13.57%) was the most prevalent cyanotic CHD followed by double outlet right ventricle in 276 (2.84%) patients. Tetralogy of Fallot according to natural history usually presents late and has favorable natural history, which can be the reason that it is the most common cyanotic CHD encountered in our study. A study by Patra et al. showed that tetralogy of Fallot was the most common cyanotic CHD (44% of total cyanotic CHD) followed by double outlet right ventricle (14% of total cyanotic CHD). [18] Our data of cyanotic and acyanotic CHD are quite similar to other Indian data. [14,15] The frequency of complex CHDs was less when compared to western data but similar to other Indian studies. [19,20] This could be due to the severity of the defects and poor natural history which might have led to the death of the patients early before accessing the medical facilities. Even increasing use of fetal echocardiography also leads to therapeutic abortion for complex heart diseases. Significant proportion of patients were diagnosed with complex CHDs. Pediatric cardiologists should be aware of such complex associations as these complex diseases are found to have higher morbidity and mortality. This study included only those patients who attended our institute. Actual burden of the state may be even higher than reported. CONCLUSIONS Burden of CHD is highly underestimated, understated, and unrecognized, and so, it is important to estimate the current burden of CHD. This study included large number of patients which yielded new data on the epidemiology, incidence, and prevalence of CHD. The results of this study will provide observed data on the basis of which appropriate changes in health policy can be made and approval for alternative provision in CHD can be fixed. This study will also provide awareness in the people with family history of CHD and will assist in early diagnosis of children. We are in great need of national registry for CHDs which is vital for understanding the actual burden of the diseases and for tracking and maintaining regular in country follow up of selected patients to reduce mortality and morbidity of these patients. Financial support and sponsorship This work was supported by U. N. Mehta Institute of Cardiology and Research Center itself and received no specific grant from any funding agency, commercial or not for profit sectors. Conflicts of interest There are no conflicts of interest. REFERENCES 1. Sommer RJ, Hijazi ZM, Rhodes JF Jr. Pathophysiology of congenital heart disease in the adult: Part I: Shunt lesions. 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