{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:02Z","timestamp":1761718082817,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Epidemiol Community Health"],"published-print":{"date-parts":[[1998,5]]},"abstract":"<jats:p>STUDY OBJECTIVE: To estimate birth prevalence of tetralogy of Fallot (TF) in Malta. DESIGN: Retrospective data collection and analysis, and comparison with earlier epidemiological studies dealing with congenital heart disease. SETTING: Regional hospital providing exclusive diagnostic and follow up services for the entire country of Malta. PATIENTS: All Maltese live births diagnosed as having TF. MAIN RESULTS: The birth prevalence of TF in Malta for the period 1980-1994 was 0.64\/1000 live births (95% confidence intervals 0.48, 0.85\/1000 live births). This was significantly higher than previously reported in the medical literature. CONCLUSIONS: The Maltese gene pool seems to have a genetic predisposition towards live births with TF. Population genetic studies with emphasis on the prevalence of 22q11 microdeletion may yield clues regarding the cause of the high rate of this condition.<\/jats:p>","DOI":"10.1136\/jech.52.5.280","type":"journal-article","created":{"date-parts":[[2009,1,5]],"date-time":"2009-01-05T14:15:53Z","timestamp":1231164953000},"page":"280-282","source":"Crossref","is-referenced-by-count":7,"title":["An excess of tetralogy of Fallot in Malta."],"prefix":"10.1136","volume":"52","author":[{"given":"V","family":"Grech","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,5,1]]},"reference":[{"key":"ref_1","unstructured":"Malta 1980\u201394 Overall Jackson Samanek","article-title":"Malta 1980\u201394 Overall Jackson Samanek"},{"issue":"823 21","key":"ref_2","first-page":"0","article-title":"Locality Years studied Total live births With TF Birth prevalence Upper 95%","volume-title":"CI Lower 95% CI p Value Bohemia","volume":"91","year":"1980","unstructured":"Locality Years studied Total live births With TF Birth prevalence Upper 95% CI Lower 95% CI p Value Bohemia 1980 91 823 21 0.23 0.33 0.13 0.0001"},{"issue":"880 66","key":"ref_3","first-page":"0","volume":"203","author":"Merseyside","year":"1979","unstructured":"Merseyside 1979\u201388 203 880 66 0.32 0.40 0.25 0.0003"},{"issue":"52 0","key":"ref_4","first-page":"0","article-title":"This study Malta","volume":"81250","year":"1990","unstructured":"This study Malta 1990\u201394 81250 52 0.80 1.25 0.51"},{"key":"ref_5","unstructured":"The birth prevalences of TF for this period and for 1980\u201394 were compared with historical data ranging from 1945\u20131996 (fig 2).4\u201317 The birth prevalence of TF in historical papers ranged between 0.16 and 0.51\/1000 live births. The total live births and total cases of TF in the historical data were summated to obtain the overall rate of TF and compared with the Maltese results for 1980\u201394. The Maltese rate was significantly higher (p<0.0001).","article-title":"The birth prevalences of TF for this period and for 1980\u201394 were compared with historical data ranging from 1945\u20131996 (fig 2).4\u201317 The birth prevalence of TF in historical papers ranged between 0.16 and 0.51\/1000 live births. The total live births and total cases of TF in the historical data were summated to obtain the overall rate of TF and compared with the Maltese results for 1980\u201394. The Maltese rate was significantly higher (p<0.0001)"},{"key":"ref_6","unstructured":"Recent studies dealing with the epidemiology of CHD have only included cases of CHD diagnosed in infancy (that is, by 1 year of age) by echocardiography, cardiac catheterisation, surgery or postmortem examination. The five year period 1990\u201394 was used to compare the birth prevalence of TF in Malta with two","article-title":"Recent studies dealing with the epidemiology of CHD have only included cases of CHD diagnosed in infancy (that is, by 1 year of age) by echocardiography, cardiac catheterisation, surgery or postmortem examination. The five year period 1990\u201394 was used to compare the birth prevalence of TF in Malta with two"},{"key":"ref_7","unstructured":"There were seven cases of recognised syndromes born between 1971 and 1990, which comprised four Down\u2019s syndrome, one Noonan\u2019s syndrome, one Aarskog\u2019s syndrome, and one Killian-Pallister syndrome.","article-title":"There were seven cases of recognised syndromes born between 1971 and 1990, which comprised four Down\u2019s syndrome, one Noonan\u2019s syndrome, one Aarskog\u2019s syndrome, and one Killian-Pallister syndrome"},{"key":"ref_8","article-title":"The last theory implies that TF in Malta occurs in rates closer to 0.80\/1000 live births (1990\u20131994) than 0.64\/1000 live births","volume-title":"would therefore make the birth prevalence of TF in Malta even higher than that in other countries. A genetic predisposition to TF in the Maltese population may be the cause of this higher birth prevalence of TF","year":"1980","unstructured":"The last theory implies that TF in Malta occurs in rates closer to 0.80\/1000 live births (1990\u20131994) than 0.64\/1000 live births (1980\u2013 1994), which would therefore make the birth prevalence of TF in Malta even higher than that in other countries. A genetic predisposition to TF in the Maltese population may be the cause of this higher birth prevalence of TF."},{"issue":"25","key":"ref_9","first-page":"77","article-title":"Contribution a lQanatomie pathologique de la maladie bleu (cyanose cardiaque)","volume":"1888","author":"Fallot, E.L.A.","unstructured":"Fallot ELA. Contribution a lQanatomie pathologique de la maladie bleu (cyanose cardiaque). Marseille Medicine 1888;25:77\u2013403.","journal-title":"Marseille Medicine"},{"key":"ref_10","article-title":"Demographic review for the Maltese Island","author":"Central OYce of Statistics","year":"publication).","unstructured":"Central OYce of Statistics. Demographic review for the Maltese Island. Malta: Central OYce of Statistics, 1945\u2013 1994 (annual publication)."},{"key":"ref_11","first-page":"14","article-title":"Statistical methods for rates and proportions","author":"Fleiss, J.L.","year":"1981","unstructured":"Fleiss JL. Statistical methods for rates and proportions. New York: John Wiley, 1981:14\u201315."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1136\/hrt.21.1.40","article-title":"The incidence of congenital heart disease in children born in Gothenburg 1941\u20131950","volume":"21","author":"Carlgren, L.","year":"1959","unstructured":"Carlgren L. The incidence of congenital heart disease in children born in Gothenburg 1941\u20131950. Br Heart J 1959; 21:40\u201350.","journal-title":"Br Heart J"},{"issue":"7","key":"ref_13","first-page":"713","article-title":"Prevalence of heart disease in Toronto children","volume":"1951","author":"Gardiner, J.H.; Keith, J.D.","unstructured":"Gardiner JH, Keith JD. Prevalence of heart disease in Toronto children. Pediatrics 1951;7:713\u201318.","journal-title":"Pediatrics"},{"key":"ref_14","first-page":"794","article-title":"Incidence of congenital heart disease in children born to residents of Olmsted County, Minnesota","volume-title":"1950\u20131969. Mayo Clin Proc 1971","volume":"46","author":"Feldt, R.H.; Avasthey, P.; Yoshimasu, F.","unstructured":"Feldt RH, Avasthey P, Yoshimasu F, et al. Incidence of congenital heart disease in children born to residents of Olmsted County, Minnesota, 1950\u20131969. Mayo Clin Proc 1971; 46:794\u20139."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/hrt.39.4.445","article-title":"Incidence of congenital heart disease in Blackpool 1957\u20131971","volume":"39","author":"Bound, J.P.; Logan, W.F.","year":"1977","unstructured":"Bound JP, Logan WF. Incidence of congenital heart disease in Blackpool 1957\u20131971. Br Heart J 1977;39:445\u201350.","journal-title":"Br Heart J"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1161\/01.CIR.43.3.323","article-title":"Congenital heart disease in 56109 births. Incidence and natural history","volume":"43","author":"Mitchell, S.C.; Korones, S.B.; Berendes, H.W.","year":"1971","unstructured":"Mitchell SC, Korones SB, Berendes HW. Congenital heart disease in 56109 births. Incidence and natural history. Circulation 1971;43:323\u201332.","journal-title":"Circulation"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/0002-9149(78)90635-5","article-title":"Congenital heart disease in a cohort of 19,502 births with long-term follow-up","volume":"42","author":"HoVman, J.I.; Christianson, M.A.","year":"1978","unstructured":"HoVman JI, Christianson MA. Congenital heart disease in a cohort of 19,502 births with long-term follow-up. Am J Cardiol 1978;42:641\u20137.","journal-title":"Am J Cardiol"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1111\/j.1651-2227.1980.tb07332.x","article-title":"Some epidemiological aspects of congenital heart disease in Denmark","volume":"69","author":"Laursen, H.B.","year":"1980","unstructured":"Laursen HB. Some epidemiological aspects of congenital heart disease in Denmark. Acta Paediatr Scand 1980;69: 619\u201324.","journal-title":"Acta Paediatr Scand"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1136\/hrt.46.1.55","article-title":"Congenital heart disease among 160480 liveborn children in Liverpool 1960\u20131969","volume":"46","author":"Dickinson, D.F.; Arnold, R.; Wilkinson, J.L.","year":"1981","unstructured":"Dickinson DF, Arnold R, Wilkinson JL. Congenital heart disease among 160480 liveborn children in Liverpool 1960\u20131969. Br Heart J 1981;46:55\u201362.","journal-title":"Br Heart J"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/tera.1420350311","article-title":"Cardiac and noncardiac malformations in a population-based study","volume":"35","author":"Ferencz, C.; Rubin, J.D.; McCarter, R.J.","year":"1987","unstructured":"Ferencz C, Rubin JD, McCarter RJ. Cardiac and noncardiac malformations in a population-based study. Teratology 1987;35:367\u201378.","journal-title":"Teratology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1161\/01.CIR.81.1.137","article-title":"Trends in congenital heart disease in Dallas county births","volume":"81","author":"Fixler, D.E.; Pastor, P.; Chamberlin, M.","year":"1990","unstructured":"Fixler DE, Pastor P, Chamberlin M, et al. Trends in congenital heart disease in Dallas county births. Circulation 1990;81:137\u201341.","journal-title":"Circulation"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1016\/0735-1097(90)90321-F","article-title":"Increased birth prevalence of cardiac defects in Yuma, Arizona","volume":"16","author":"Mayberry, J.C.; Scott, W.A.; Goldberg, S.J.","year":"1990","unstructured":"Mayberry JC, Scott WA, Goldberg SJ. Increased birth prevalence of cardiac defects in Yuma, Arizona. J Am Coll Cardiol 1990;16:1696\u2013700.","journal-title":"J Am Coll Cardiol"},{"key":"ref_23","first-page":"145","article-title":"to 1984","volume-title":"G Ital Cardiol","volume":"23","year":"1993","unstructured":"to 1984. G Ital Cardiol 1993;23:145\u201352."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF02083294","article-title":"Prevalence, treatment and outcome of heart disease in live-born children: A prospective analysis of 91,823 live-born children","volume":"10","author":"Samanek, M.; Slavik, Z.; Zborilova, B.","year":"1989","unstructured":"Samanek M, Slavik Z, Zborilova B, et al. Prevalence, treatment and outcome of heart disease in live-born children: A prospective analysis of 91,823 live-born children. Pediatr Cardiol 1989;10:205\u201311.","journal-title":"Pediatr Cardiol"},{"key":"ref_25","first-page":"272","article-title":"Epidemiology of congenital heart disease in Merseyside-1978\u20131988","volume":"6","author":"Jackson, M.; Walsh, K.P.; Peart, I.","year":"1996","unstructured":"Jackson M, Walsh KP, Peart I, et al. Epidemiology of congenital heart disease in Merseyside-1978\u20131988. Cardiology in the Young 1996;6:272\u201380.","journal-title":"Cardiology in the Young"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/0140-6736(92)92107-Q","article-title":"Deletions within chromosome 22q11 in familial congenital heart disease","volume":"340","author":"Wilson, D.I.; Goodship, J.A.; Burn, J.","year":"1992","unstructured":"Wilson DI, Goodship JA, Burn J, et al. Deletions within chromosome 22q11 in familial congenital heart disease. 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