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16 PATTERN OF CONGENITAL HEART DISEASE AMONG CHILDREN IN MADINA MUNA W ARA BASHIR AHMAD BHAT, MD; SHEIKH ABDUL MATEEN, MD; ANWAR KHAN, MD; MOHAMMAD AHMAD IMAM DAD, DCH, Arab Board A total of 1209 children with 'congenital heart disease (CHD) were studied in the Pediatric Cardiology Unit of the Madina Maternity' and Children Hospital, in Madina Munawara, between March 1992 and February 1995, with an aim to provide an overview of CHD in this part of the Kingdom. Both sexes were equally affected. Ventricular septal defects (VSD) were found to be the commonest lesion (frequency, 29.7%), followed by atrial septal defect, pulmonary valve stenosis, and patent ductus arteriosus. The study indicates a high prevalence of atrial septal defects and pulmonary valve stenosis and relative infrequency of obstructive aortic lesions in Saudi Arabia as compared to American and European children. A total of 62% of the patients studied were detected by one year of age, which falls short of cumulative detection rates in Europe, indicating a need for further improvement in case detection. CONGENITAL HEART DISEASE (CHD) occurs in approximately one percent of live born children; it occurs in a much higher percentage of those aborted spontaneously or stillborn.l Several reports suggest that the incidence and pattern of CUD vary in different geographicallocations.2-7 With these reports in mind, we investigated the patterns of CHD in the Madina region in our study at Madina Maternity and Children Hospital, in Madina Munawara. to have CHD were included in the study. Each patient was diagnosed on the basis of physical examination, standard chest radiography, electrocardiography, and echocardiography (2-D and Doppler). All patients had a final evaluation by the pediatric cardiologist. In patients where there was discordance between clinical and echocardiographic diagnoses, both diagnostic procedures were repeated to arrive at correct diagnosis. Results Materials and Methods The study was conducted in a period of three years, beginning in March 1992, in Madina Maternity and Children Hospital, Madina Munawara, which is the only referral center for the entire Madina Region. Every patient referred to the cardiology clinic was screened and only those found From the Department of Pediatrics, Madina Maternity and Children Hospital, Madina Munawara. Address reprint requests and correspondence to Dr. Abdul Mateen: Department of Pediatrics, Madina Maternity and Children Hospital, Madina Munawara. Journal oCthe Saudi Hcan Association. Vol. 9, No. I, 1997 During the study period of 36 months, a total of 2106 children were referred for screening at the pediatric cardiology clinic. Of this total, 1209 (57.4%) had CHD. Most of the children were Saudis, but this was not specifically documented. The various defects identified in our study are shown in Table 1 with comparative data of the prevalence of various cardiac defects found in other parts of the world. Ventricular septal defects (VSD) were found to be the commonest lesion, followed by atrial septal defects and pulmonary valve stenosis. Of 38 CONGENITAL HEART DISEASE 17 patients with atrioventricular canal defects, 30 (79%) patients had features of Down's syndrome. The spectrum of complex defects in this study showed 13 patients with dextrocardia, including 6 patients with situs inversus, 9 patients with asymmetrical septal hypertrophy (all infants of diabetic mothers), 7 patients had hypoplastic left heart syndrome and double-outlet right ventricle, 5 patients with tricuspid atresia, 4 patients with Ebstein anomaly, 2 patients with pulmonary atresia and truncus arteriosus, and I patient with total anomalous pulmonary venous drainage. Table 1. Prevalence of various cardiac defects in different countries. Defects California* (n - Blackpoolt 163)10 (n 31.3 Ventricular septal defect - Nigeria 338)9 - (n 28.1 635)4 Denmark (n 5.0 - 5249)7 India (n - Madinat 2(0)5 24.0 29.0 (n - 1209)8 29.7 Atrial septal defect 6.1 8.3 7.5 9.4 12.0 26.0 Pulmonary stenosis 13.5 5.5 3.7 2.7 6.5 7.4 9.0 22.0 NM 5.9 12.6 2.6 7.0 11.0 NM 16.1 13.2 3.1 3.7 5.5 3.7 8.6 5.6 5.6 10.0 2.0 4.5 5.8 7.0 4.8 17.0 2.0 4.5 2.2 1.9 1.8 Patent ductus arteriosus Atrioventricular canal defect Tetralogy of Fallot Coarctation of aorta Transposition of great arteries Aortic stenosis 3.7 4.1 0.6 4.7 2.5 1.6 Others 23.3 23.1 9.4 23.2 15.0 4.4 'Califomia, United States; tBlackpool, United Kingdom; tMadina, Saudi Arabia; NM - not mentioned. Table 4. Distribution of various cardiac lesions in newborn babies. Table 2. Sex distribution of various cardiac defects. Defects Total Male Female MIF Defects No. patients Percentage (M) (F) Ratio Patent ductus arteriosus 73 25 Ventricular septal defect 359 199 160 1.2 Ventricular septal defect 71 24 Atrial septal defect 314 195 159 38 149 99 67 22 165 96 92 16 0.9 1.0 0.7 1.4 Atrial septal defect Pulmonary stenosis Transposition of great arteries Atrioventricular canal defect 65 16 15 10 22 5 5 3 26 23 12 17 14 6 0.8 2.8 Coarctation of aorta Tetralogy of Fallot 9 5 3 2 16 13 34 6 7 19 2.7 1.7 1.8 Others Total 31 295 II 100 Others 22 20 53 Total 1209 628 581 1.0 Pulmonary stenosis Patent ductus arteriosus Atrioventricular canal defect Tetralogy of Fallot Coarctation of aorta Transposition of great arteries Aortic stenosis Table 3. Age at detection of various lesions. Age VSD ASD PDA AVCD PS Below I wk 33 42 48 4 7 3 I 1-4wk 38 23 25 6 9 6 4 1-3mo 64 59 22 7 21 5 3 3 - 12 mo 96 128 61 129 27 37 13 8 40 118 3 6 8 10 Over 12 mo - - COARC FT - - VSD ventricular septal defect; ASD atrial septal defect; PDA = patent ductus arteriosus; A VCD atrioventricular canal defect; PS pulmonary stenosis; COARC = coarctation of aorta; FT = tetralogy of Fallot; AS aortic stenosis; TGA transposition of great arteries. Journal oflhe Saudi Hean Association, Vol. 9. No. I. 1997 - - 18 BRAT ETAL There was no overall difference in the sex distribution of the various defects (male/female ratio, 1.08: 1.0) but a difference in the sex ratio in some lesions was prominent (Table 2). Males predominated in coarctation of aorta, transposition of great arteries, and aortic stenosis, while patent ductus arteriosus and tetralogy of Fallot were common in females. Age of Patients at Detection Table 3 shows the ages at which these children were detected to have CHD. Fifteen of the 22 patients with transposition of the great arteries and 31 patients with complex defects were detected in the neonatal period. The majority of patients with acyanotic congenital heart disease were detected later. Overall, the cumulative detection frequencies were 14% at one week, 24% at one month, 40% at three months, and 62% at one year. In this study, there were 295 neonates (Table 4), and 58% of the complex lesions were diagnosed in the neonatal period. Transposition of the great arteries, tetralogy of Fallot, coarctation of aorta, atrioventricular canal defects, and other complex defects, including 7 cases of hypoplastic left heart syndrome, 5 cases of tricuspid atresia, 2 cases of pulmonary atTesia, and I case of total anomalous pulmonary venous drainage, accounted for 70 (24%) of the 295 cases. Discussion To determine the incidence of CHD accurate I y, it is necessary to have accurate diagnosis of all children who have the disease. Factors that affect the underestimation of the incidence of CHD include the lack of an efficient medical system for diagnosis of these lesions, presence of minimal asymptomatic lesions not detected at clinical examination, and inability to diagnose CHD in infants who die soon after birth.l Similarly, large cardiac centers with facilities for cardiovascular surgery that treat patients referred by physicians in the periphery only reflect the population of patients with severe malformations. Compared to this, the patients minimally selected, as in our study, referred either because of a known or suspected cardiac lesion, represent a true pattern of CHD in our region. There are many similarities as well as dissimilarities in our results when compared with Journal of the Saudi Heart Association, Vol. 9, No. I, 1997 other studies (Table I ). Ventricular septal defect remains the commonest single defect with a prevalence of 29.7% in our series. However, atrial septal defects, pulmonary stenosis, and patent ductus arteriosus are seen in a higher percentage of our patients. Obstructive aortic lesions, such as aortic valve stenosis and coarctation of aorta, were seen less frequently as compared to a higher percentage of these lesions among American and European children (Table I). Regional differences in the prevalence of various cardiac lesions have been well documented. I-I 0 Studies of ethnic influences on the pattern of congenital heart lesions in the United Kingdom have revealed a higher frequency of coarctation of aorta among non-Asian infants (9% vs 3.1 %) compared to Asian infants. I I There have also been similar reports about paucity of obstructive aortic lesions from the Kingdom of Saudi Arabia,12 indicating that racial and genetic factors may influence the frequent occurrence of obstructive aortic lesions among different populations), \3 In the continents of Australia, Asia, and Africa, the indigenous inhabitants may not have access to good medical care, and cultural factors may prevent infants from receiving medical care and may not allow autopsies. Therefore, serious cardiac lesions that cause both early death and very mild lesions may be underrepresented in reported series which tend to have inflated incidences for lesions like tetralogy of Fallot that do not usually cause death in early infancy but are conspicuous enough to be diagnosed. I Regarding etiological factors, trisomy-21 was the single easily identifiable factor. Thirty (79%) of the 38 patients with atrioventricular canal defects had trisomy-21; and there is a known association between the two conditions. 14.15 The age at which CHD is detected in a region reflects the overall health facilities in that region. In our study, the detection rates were 24% at I month, 40% at 3 months, and 62% at one year of age. Although few data are available about the patterns of CHD in Saudi Arabia, one study conducted by Jaiyesimi et al,12 in the Qassim province, reported a detection rate of 60% at one year; this is similar to the detection rate (62%) in Madina Munawara. However, this falls short of the cumulative detection rates in Europe where 82% of the patients were detected by one year of age in a study conducted by Bound and Logan.9 19 CONGENITAL HEART DISEASE It is still necessary to improve our detection rates. despite the presence of an effective network of health care in this region. An increasing awareness of this problem among doctors in the primary health care institutions. post-natal wards, as well as major provincial health institutions is needed. There is also a need for training pediatricians in major provincial institutions for echocardiographic evaluation of patients to improve the detection rate of CHD. Last, but not least, multicenter studies are needed to investigate the true patterns of CHD in the Kingdom of Saudi Arabia. References I. Hoffman JIE. Congenital heart disease: incidence and inheritance. Pediatr Clin North Am 1990;37(1):25-40. 2. Mitchel SC, Korones SB, Berendes HW. Congenital heart disease in 56,109 births: incidence and natural history. Circulation 1971 ;43:323-32. 3. Anderson RC. Congenital heart malfonnations in North American Indian children. Pediatrics 1977;59: 121-3. 4. Jaiyesimi F, Antia AU. Congenital heart disease in Nigeria: a ten-year experience in UCH, Ibadan. Ann Trop Paediatr 1981; I :77-85. 5. Pai BV, Varkey CC. Spectrum of congenital heart disease in a general hospital: study of 200 cases. Indian J Pediatr 1974;41:317-21. Journal of the Saudi"ean Association. Vol. 9, No. I. 1997 6. Muir CS. Incidence of congenital heart disease in Singapore. Br Heart J 1966;22:243-54. 7. Laursen HB. Some epidemiological aspects of congenital heart disease in Denmark. Acta Pediatr Scand 1980;69:619-24. 8. Ellison RC. Epidemiological contributions to the etiology and prevention of congenital heart disease. In: Godman MJ, editor. Pediatric Cardiology. Vol 4. Churchill Livingstone: Edinburgh,1981:6-13. 9. Bound JP, Logan WF. Incidence of congenital heart disease inBlackpool, 1957-1971. BrHeartJ 1977;39:445-50. 10. Hoffman JIE, Christianson R. Congenital heart disease in a cohort of 19,502 births with long-tenn follow-up. Am J CardioI1978;42:641-7. II. Sadiq M, Stumper 0, Wright JG, et al. Influence of ethnic origin on the pattern of congenital heart defects in the first year of life. Br Heart J 1995;73(2): 173-6. 12. Jaiyesimi F, Ruberu DK, Misra VK. Pattern of congenital heart disease in King Fahd Specialist Hospital, Buraidah. Ann Saudi Med 1993;13(5):407-11. 13. Vander Horst RL, Gotsman MS. Racial incidence of coarctation of the aorta. Br Heart J 1972;34:289-94. 14. Burn J. The aetiology of congenital heart disease. In: Anderson RH, Macartney FJ, Shinebourne EA, Tynan M, editors. Pediatric cardiology. Churchill Livingstone: Edinburgh, 1987: 16-63. 15. Laursen HB. Congenital heart disease in Down's syndrome. Br Heart J 1976;38:32-8.